Spina Bifida: Effects, Risks, Diagnosis, and Prevention

The effects may be different for every person. Up to 90% of children with the worst form of spina bifida have hydrocephalus (fluid on the brain) and must have surgery to insert a “shunt” that helps drain the fluid—the shunt stays in place for the lifetime of the person. Other conditions include full or partial paralysis, bladder and bowel control difficulties, learning disabilities, depression, social and sexual issues, and latex allergy.

Who is at risk?

No one knows for sure. Doctors and scientists believe that a complex mix of both genetic and environmental factors act together to cause the condition. In fact, 95% of neural tube defects (NTDs) occur in women with no personal or family history of NTDs.

However, according to the Centers for Disease Control and Prevention (CDC), here are some risk factors that are known to increase the risk of an NTD:

• A previous NTD-affected pregnancy makes it approximately 20x more likely that a woman will have another NTD-affected pregnancy
• Maternal insulin-dependent diabetes
• Use of certain anti-seizure medication (Valproic acid/Depakene, and Carbamazepine/Tegretol)
• Medically diagnosed obesity
• High temperatures in early pregnancy (i.e., prolonged fevers and hot tub use)
• Race/ethnicity (NTDs are more common among white women than black women, and more common among Hispanic women than non-Hispanic women)
• Lower socioeconomic status

Can Spina Bifida be detected before birth?

Yes. There are three tests, but, it is important to remember that no medical test is perfect and the results are not always 100 percent accurate. Spina Bifida can be detected in utero by one of the following tests:

1. A blood test during the 16th to 18th weeks of pregnancy. This is called the alpha-fetoprotein (AFP screening test). This test is higher in about 75–80 percent of women who have a fetus with Spina Bifida.
2. An ultrasound of the fetus. This is also called a sonogram and can show signs of Spina Bifida such as the open spine.
3. A test where a small amount of the fluid from the womb is taken through a thin needle. This is called maternal amniocentesis and can be used to look at protein levels.

How can you prevent it?

Spina bifida is best prevented by taking 400 micrograms (mcg) of folic acid every day. Studies have shown that if all women who could become pregnant were to take a multivitamin with the B-vitamin folic acid, the risk of neural tube defects could be reduced by up to 70%.

Folic acid is a water-soluble B-vitamin that helps build healthy cells, but it does not stay in the body long. It is important that women take folic acid every day to help reduce the risk of neural tube defects.

Since half of all pregnancies in the United States are unplanned, women of childbearing age – even if they are not currently planning to get pregnant – should take 400 micrograms (mcg) of folic acid every day to reduce their risk of having a child with spina bifida.

What if you are at a higher risk for spina bifida?

Women who have experienced a pregnancy affected by an NTD like spina bifida need a higher intake of folic acid. It is suggested that these women need to take a dose that is 10 times greater when planning a pregnancy. This amount of folic acid is 400 micrograms (mcg) and is available by prescription from a health care provider.

It is recommended that adults with Spina Bifida and couples who already have a child with Spina Bifida talk with their OB-GYN or genetic counselor about their risk factors and ways to reduce the risk.

Where can I go for additional information?

For additional information contact the Spina Bifida Association of America:
www.sbaa.org
Spina Bifida Association of America
4590 MacArthur Blvd., NW, Suite 250
Washington, DC 20007-4226
(800) 621-3141
(202) 944-3285

Want to Know More?

• Tips for Preventing Birth Defects
• Genetic Counseling
• Preconception Nutrition

Centers for Disease Control and Prevention. Prevalence of Spina Bifida at Birth — the United States, 1983-1990: a Comparison of Two Surveillance Systems, MMWR Morbidity, and Mortality Weekly Report. 1996; 45: SS02;015.
Centers for Disease Control and Prevention. Use of Folic Acid for Prevention of Spina Bifida and Other Neural Tube Defects 1983-1991. MMWR Morbidity and Mortality Weekly Report. 1991;40:513-516. CDC, 1999. https://www.cdc.gov/mmwr/preview/mmwrhtml/00014915.htm, accessed Aug 7, 2002.
Centers for Disease Control and Prevention. Use of Folic Acid for Prevention of Spina Bifida and Other Neural Tube Defects 1983-1991. MMWR Morbidity and Mortality Weekly Report. 1991;40:513-516.
Centers for Disease Control and Prevention. Prevalence of Spina Bifida at the Birth United States, 1983-1990: a Comparison of Two Surveillance Systems, MMWR Morbidity, and Mortality Weekly Report. 1996; 45: SS02;015.

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Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal disorder and cause of learning disabilities in children. In the United States, Down syndrome occurs in 1 of every 800 infants with many as 6,000 children born with Down syndrome each year. It is estimated that about 85% of infants with Down syndrome survive one year and 50% of those will live longer than 50 years. According to the National Down Syndrome Society, there are more than 350,000 people living with Down syndrome in the United States.

A better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.

What causes Down Syndrome?

Down syndrome can be caused by one of three types of abnormal cell division involving chromosome 21.
The three genetic variations include:

• Trisomy 21– More than 90% of Down syndrome cases are caused by trisomy 21. An extra chromosome (chromosome 21) originates in the development of either the sperm or the egg. When the egg and the sperm unite to form the fertilized egg, three (rather than two) chromosomes 21 are present. As the cells divide the extra chromosome is repeated in every cell.

• Mosaic Trisomy 21 – This is a rare form (less than 2% of cases) of Down syndrome. While similar to simple trisomy 21, the difference is that the extra chromosome 21 is present in some, but not all cells, of the individual. This type of Down syndrome is caused by abnormal cell division after fertilization. The name comes from a random order of normal and abnormal cells (a mosaic). In cellular mosaicism, the mixture can be seen in different cells of the same type; while with tissue mosaicism, one set of cells may have normal chromosomes and another type may have trisomy 21.

• Translocation Trisomy 21-Sometimes (in 3-4% of cases) part of chromosome 21 becomes attached (translocated) to another chromosome (usually the 13th, 14th or 15th chromosome) before or at conception. The carrier (the one having the translocated chromosome) will have 45 chromosomes instead of 46 but they will have all the genetic material of a person with 46 chromosomes. This is because the extra chromosome 21 material is located on a different chromosome (the translocated one). A carrier will have the extra material but will have only one chromosome 21. The carrier will not exhibit any of the symptoms of Down syndrome because they have the correct amount of genetic material.

For couples who have had one child with Down syndrome due to translocation trisomy 21, there may be an increased likelihood of Down syndrome in future pregnancies. This is because one of the parents may be a balanced carrier of the translocation.

The chance of passing the translocation depends on the sex of the parent who carries the rearranged chromosome 21. If the father is the carrier, the risk is about 3 percent, with the mother as the carrier, the risk is about 12 percent.

In all cases of Down syndrome, but especially in cases with translocation trisomy 21, it is important for the parents to have genetic counseling in order to determine their risk. There are no known behavioral or environmental causes of Down syndrome.

What is the Risk for Down Syndrome?

Some parents have a greater risk of having a baby with Down syndrome, including:

Maternal Age

As a woman’s eggs age, there is a higher risk of the chromosomes dividing incorrectly. Therefore the risk of Down syndrome increases with a woman’s age.

Previous child with Down syndrome

Generally, couples who have had one child with Down syndrome have a slightly increased risk (about 1%) of having a second child with Down syndrome.

A carrier parent

Parents who are carriers of the genetic translocation for Down syndrome have an increased risk depending on the type of translocation. Therefore, prenatal screening and genetic counseling are important. People with Down syndrome rarely reproduce. Fifteen to thirty percent of women with trisomy 21 are fertile and they have about a 50% risk of having a child with Down syndrome.

There is no evidence of a man with Down syndrome fathering a child. While the incidence of births of children with Down syndrome increases with maternal age, more children are born to women under the age of 35 due to higher fertility rates. Eighty percent of children with Down syndrome are born to women under the age of 35 years.

What is the difference between a Screening Test and a Diagnostic Test?

A screening test will help identify the possibility of Down syndrome. Screening tests do not provide conclusive answers, but rather, they provide an indication of the likelihood of the baby having Down syndrome. An abnormal test result does not mean that your baby has Down syndrome.

The goal with a screening test is to estimate the risk of the baby having Down syndrome. If the screening test is positive and the risk for Down syndrome exists, further testing may be recommended. Diagnostic tests can identify Down syndrome before the baby is born.

In the January issue of Obstetrics & Gynecology, the American College of Obstetricians and Gynecologists released guidelines recommending screening for Down syndrome to all pregnant women during their first trimester.

Diagnostic tests tend to be more expensive and have a degree of risk; screening tests are quick and easy to do. However, screening tests have a greater chance of being wrong; there are “false-positive” (test indicates the baby has the condition when the baby really does not) and “false-negatives” (baby has the condition but the test indicates they do not).

Screening and Diagnosis

Screening Tests During Pregnancy

Various screening tests can help identify the possibility of Down syndrome. These screening tests do not provide conclusive answers but provide an indication of the likelihood of the baby having Down syndrome.

The most common prenatal screening tests include:

• Ultrasound
• Blood tests – The results of the ultrasound are paired with blood tests.
  • First Trimester Screen – This is a two-step screening. The maternal blood is tested for two normal first-trimester proteins. Then, an ultrasound is used to look at the nuchal translucency region under the skin behind the baby’s neck. This test is done between the 11th and 14th week of pregnancy.
  • Quad Marker Screen – Maternal blood is tested for four substances that normally come from a baby’s blood, brain, spinal fluid, and amniotic fluid. This test is done between the 15th and 20th weeks of pregnancy.
  • Triple Screen – During the 16th and 18th week of pregnancy a blood test can be performed which measures the quantities of three substances: Alpha-fetoprotein (AFP) which is produced by the fetus, human chorionic gonadotropin (hCG), and unconjugated estriol which is produced by the placenta. In determining the results of the test, health care providers take into account the mother’s age, weight, and ethnicity.

Diagnostic Tests During Pregnancy

If the screening tests are positive or high risk for Down syndrome exists, further testing might be needed.

Diagnostic tests that can identify Down syndrome include:

• Amniocentesis – performed after week 15.
• Chorionic villus sampling (CVS) – performed between the 9th and 14th week.
• Percutaneous umbilical blood sampling (PUBS) – performed after week 18.

Diagnostic Tests for Newborns

After birth, the initial diagnosis is usually based on the baby’s appearance. If some or all of the characteristic Down syndrome features are present, the health care provider will order a chromosomal karyotype test to be done. If there is an extra chromosome 21 present, the diagnosis is Down syndrome.

What are the reasons to test or not test?

The reasons to test or not test vary from person to person and couple to couple.
Performing the tests and confirming the diagnosis provides you with certain opportunities:

• Begin planning for a child with special needs
• Start addressing anticipated lifestyle changes
• Identify support groups and resources

Some individuals or couples may elect not to pursue testing or additional testing for various reasons:

• They are comfortable with the results no matter what the outcome is
• Because of personal, moral, or religious reasons, the decision about carrying the child to term is not an option
• Risk of harming the developing baby

It is important to discuss the risks and benefits of testing thoroughly with your health care provider. Your health care provider will help you decide if the benefits from the results could outweigh any risks from the procedure.

Signs and Symptoms of Down Syndrome

Symptoms of Down syndrome can range from mild to severe. Mental and physical developments are usually slower in people with Down syndrome than for those without the condition. Infants born with Down syndrome may be of average size, but grow slowly and remain smaller than other children of the same age.
Some common physical signs of Down syndrome include:

• Flat face with an upward slant to the eyes
• Short neck
• Abnormally shaped or small ears
• Protruding tongue
• Small head
• Deep crease in the palm of the hand with relatively short fingers
• White spots in the iris of the eye
• Poor muscle tone, loose ligaments, excessive flexibility
• Small hands and feet

There are a variety of health conditions frequently found in those with Down syndrome which include:

• Congenital heart disease
• Hearing problems
• Intestinal problems, such as blocked small bowel or esophagus
• Celiac disease
• Eye problems, such as cataracts
• Thyroid dysfunctions
• Skeletal problems
• Dementia – similar to Alzheimer’s
• Infectious diseases – because of abnormalities to their immune systems, children are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.

Treatment

There is no medical cure for Down syndrome. However, children with Down syndrome would benefit from early medical assistance and developmental interventions beginning during infancy. Children with Down syndrome may benefit from speech therapy, physical therapy, and occupational therapy. They may receive special education and assistance in school.

Prognosis

The general health and quality of life for people with Down syndrome has improved drastically in recent years. Many adult patients are healthier, live longer, and participate more actively in society due to early intervention and therapy.

Coping Skills

Discovering that your child has Down syndrome can be scary and difficult. You may not know what to expect and may worry about caring for a child with disabilities.
Three actions can be helpful in coping with this new situation:

• Assemble a team of professionals –Find a team of health care providers, teachers, and therapists that you trust to work with you in providing the best care for your child.
• Seek out other families – Support from those who have had similar experiences with a Down syndrome child can be very beneficial. These support groups can be found through local hospitals, physicians, schools and the Internet.
• Don’t believe the myths about Down syndrome – Immense strides have been made in recent years with people who have Down syndrome. Most live with their families, go to mainstream schools and have various jobs as adults. People with Down syndrome can have fulfilling lives.

Want to Know More?

The following organizations can provide additional information:
March of Dimes
https://www.marchofdimes.org
National Down Syndrome Congress
https://www.ndsccenter.org
National Down Syndrome Society
https://www.ndss.org

Compiled using information from the following sources:

• eMedicine Health, https://www.emedicinehealth.com
• Family Doctor, https://familydoctor.org
• March of Dimes, https://marchofdimes.org
• Mayo Clinic, https://www.mayoclinic.com
• National Down Syndrome Society, https://ndss.org
• National Institute of Child Health & Human Development, https://nichd.nih.gov
  

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Studies show that using drugs, legal or illegal, during pregnancy has a direct impact on your fetus. If you smoke or drink alcohol so does your baby. If you use marijuana, cocaine, crystal meth, or any drug, your baby also feels the impact of these dangerous drugs and its life is at risk.
Perhaps you already know this and you’re seeking help so your baby doesn’t suffer miscarriage, birth defects, premature labor or addiction. But staying clean and sober is so hard and relapse is so easy. It’s important to understand that relapse does not mean your recovery has failed or is impossible.
Understanding the stages of relapse, relapse warning signs and how to manage relapse can be the difference between being able to use a relapse event as a valuable learning experience or giving up on recovery and slipping back into substance use.

The Definition of Drug Relapse

According to the Merriam-Webster dictionary, relapse is defined as:

• The act or an instance of backsliding, worsening or subsiding
• A recurrence of symptoms of a disease after a period of improvement

When applied to recovery from a substance use disorder, relapse means that someone who had successfully managed to abstain from their drug of choice backslides into substance use. Relapse may be a one-time event, or it may lead to regular and worsening substance use.

How Common is Relapse?

According to the National Institute on Drug Abuse (NIDA), between 40% and 60% of people with a substance use disorder will have a relapse event. Although this statistic is daunting, it is important for people in recovery to understand that relapse does not equal failure. In fact, many people who have had long term success in recovery look back on their relapses as valuable learning experiences.
Statistics on drug relapse show that relapse rates without professional treatment vary by drug type:

• Opioids (heroin, oxycodone) are associated with the highest relapse rates. More than 90%of people who quit using opioids will relapse.
• Nicotine has relapse rates that are estimated to be between 80% and 90%.
• Alcohol is associated with relapse rates between 50% and 80%.
• Cocaine relapse rates are estimated to be between 40% and 80%.

Relapse rates are lower for people who have completed professional rehab programs, but even then relapse rates can approach 50%. Rather than letting this be a discouraging statistic, it should help people understand that relapse is frequently a normal part of a successful recovery and many people who have enjoyed long-term sobriety experienced frustrating setbacks in the form of relapse.
Studies have shown that relapse vulnerability for cocaine is at its highest in the first 1-6 months after quitting, and relapse for most drugs typically occurs within the first year of sobriety.

Stages of Relapse

There are three stages of drug relapse:

• Emotional relapse:The first stage of relapse is generally not associated with thinking about using drugs. Many people in this early stage are determined to maintain sobriety. However, an emotional relapse often includes denial, self-isolation and overall poor self-care, which can increase the risk for depression and future relapse.
• Mental relapse:The second stage of relapse is characterized by a gradually increasing desire to use the drug of choice. Many people in mental relapse will bargain with themselves (“I will only use the drug at social events where it is acceptable”) or glamorize past use.
• Physical relapse:The final stage of relapse is the actual relapse event. The best way to prevent physical relapse is to understand the warning signs and symptoms associated with the first two stages.

Warning Signs and Symptoms of Relapse

While a drug relapse may seem spontaneous, it is actually a gradual process that involves an “incubation of craving.” As the three stages of relapse progress, cravings often become stronger. If triggers or temptations are present, these cues will further drive the development of cravings.

Relapse Triggers

Triggers are things that remind you of your drug of choice and that promote cue-induced craving incubation. Common triggers are old friends who you used drugs with, places where you used drugs, drug paraphernalia and even songs that you listened to while using.
It will generally be impossible to completely avoid triggers, which is why making a relapse prevention plan is so important. When you can successfully face a trigger without succumbing to temptation, you will gain confidence in yourself and your ability to maintain long term sobriety.

How to Prevent Relapse

Drug relapse prevention is a crucial component in successfully managing short and long term recovery. Having a relapse prevention plan can be the difference between resisting or giving in to a temptation.
Relapse prevention can be substantially aided by having a solid network of supportive people in your life. Discussing your goals for sobriety and why recovery is important to you with someone you trust can be valuable if you start to question whether the challenges of recovery are worth it- having someone remind you of your goals and inspirations can be incredibly motivating. Aftercare or 12 step programs can be helpful ways to meet new people and develop a new, supportive network of friends.
Untreated co-occurring mental health disorders such as depression, anxiety and post-traumatic stress disorder are significantly associated with relapse. Conversely, a positive outlook and an ability to cope with stressors are significantly associated with successful recovery.
Other tips to prevent relapse include:

• Wait 30 minutes.Most urges will subside over the course of 15 to 30 minutes.
• Re-define “fun.”Find new hobbies or activities to replace your old ones. Exercise, arts & crafts and volunteering can be incredibly fulfilling and confidence-building.
• Learn from setbacks.If you relapse, make sure to take the time to understand which factors contributed to the relapse. Relapse is a learning experience, not a failure.
• Participate in cognitive behavioral therapy or another form of therapy that helps you become comfortable with your new sobriety.

If you are struggling to overcome a substance use disorder, you don’t have to do it alone. Contact the National Alcohol & Drug Dependence Hopeline at 1-800-NCA-CALL (622-2255) for help.

Article provided by Ridgefield Recovery using these sources:

• National Institute on Drug Abuse. “How effective is drug addiction treatment?” Updated January 2018. Accessed October 24, 2019.
• Velander, Jennifer R. “Suboxone: Rationale, Science, Misconceptions.” The Ochsner Journal, Spring 2018. Accessed October 23, 2019.
• Hendershot, Christian S.; et al. “Relapse prevention for addictive behaviors.” Substance Abuse Treatment, Prevention, and Policy, July 2011. Accessed October 24, 2019.
• Moos, Rudolf H.; Moos, Bernice S. “Rates and predictors of relapse after natural and treated remission from alcohol use disorders.” Addiction, September 2007. Accessed October 24, 2019.
• National Institute on Drug Abuse. “Study Ranks Recovery Assets in Cocaine Addiction.” Updated July 2015. Accessed October 24, 2019.
• National Institute on Drug Abuse. “EEG Indicates That Cocaine Relapse Vulnerability Peaks 1 to 6 Months Into Abstinence.” September 2017. Accessed October 24, 2019.
• Melemis, Steven M. “Relapse Prevention and the Five Rules of Recovery.” The Yale Journal of Biology and Medicine, September 2015. Accessed October 23, 2019.
• National Institute on Drug Abuse. “Cues give clues in relapse prevention.” April 2019. Accessed October 24, 2019.

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When Does an Intraventricular Hemorrhage Happen?

This condition not usually present at birth, but rather occurs within the first three to four days after birth. It is important to understand the signs and measures to take if a baby may be suffering from it.

For infants born before 30 weeks or ones who weigh less than 5 lb 3 oz, it is always a good idea to ask for an ultrasound in the days following birth. This is one of the most effective ways of finding out if a baby is experiencing IVH. After 1 month out of the womb, there is almost no further risk of IVH.

Grades of Intraventricular Hemorrhages

Grades I-IV:

1. Grade I – Bleeding of the ventricles in small areas (also known as germinal matrix hemorrhage)
2. Grade II – There is bleeding found inside the ventricles
3. Grade III – The blood is causing an enlargement of the ventricles and presses on the brain tissue
4. Grade IV – Blood is found in the brain tissues surrounding the ventricles (also known as an intraparenchymal hemorrhage).

Grades 1 and 2 are the most common and refer to smaller amounts of bleeding. Generally, a grade 1 or 2 hemorrhage will not cause permanent damage and can be treated.

Grades 3 and 4 are diagnosed when such severe bleeding has entered the ventricles that they are enlarged and blood clots could be preventing the flow of cerebrospinal fluid. This increases the amount of fluid in the brain, otherwise known as hydrocephalus.

Causes:

There is no easily definable cause of intraventricular hemorrhage. The condition occurs because blood vessels are not fully developed or strong enough to support the blood flow (which is why this is rarely found in more developed babies).
While it could be caused by a head injury or pressure from delivery, it can also occur without much warning or reason.

Many factors can contribute to the likelihood of this condition. Premature babies are most at risk, especially those born ten weeks early or earlier. The more premature a baby is, the more at risk he or she is for this and other health complications.

Preemies born with respiratory problems (like RDS) or other complications because of prematurity are also at higher risk. Babies who experience other blood-related problems, infections, and/or shaken baby syndrome have an increased risk of intraventricular hemorrhage.

Symptoms”

Sometimes, babies with intraventricular hemorrhage may experience little to no obvious symptoms. In other cases, there are various symptoms that may occur.
Because many of these symptoms could also be indicative of other conditions, it is important to consult with a doctor when you notice any of the following:

• Apnea, or trouble breathing
• Decreased or slow reflexes
• Lethargy or baby is sleeping abnormally extended periods of time/often
• Changes in heart rate
• Weak suck during breastfeeding
• Seizures
• High-pitched crying
• Pale or blue coloring of the skin
• Decreased muscle tone

While none of these symptoms are a sure sign of intraventricular hemorrhage, they could all point to a serious problem and should be brought to the attention of a medical professional.
An ultrasound of the head and blood tests can determine whether a baby is suffering from intraventricular hemorrhage and at what grade.
Ultrasounds can also assist in determining if the baby may be suffering from another condition or complication.

Common Treatments:

There is no natural cure for intraventricular hemorrhage, but there are steps doctors and mothers can take to help prevent or lessen the effects of the condition.

Mothers with a high risk of premature delivery may be prescribed certain steroids to reduce the risk of a premature baby developing it.

If it is discovered that the baby is suffering from intraventricular hemorrhage, doctors can try to lessen symptoms and stabilize the baby to prevent more damage while it heals. In more extreme cases, surgery can be used to try to stabilize the baby’s condition. Before surgery, doctors may drain the cerebrospinal fluid with a needle or through less invasive surgery to relieve pressure on the ventricles.

Generally, babies with less severe grades will heal on their own; however, medical assistance can give them the best chance to recover with no or minimal damage.

The Prognosis of intraventricular hemorrhage:

The outcome depends on the severity of intraventricular hemorrhage and how premature the baby is when it develops this. The more developed a baby is, the less its risk. Most babies who suffer grade 1 or 2 will survive, and with minimal damage. Less than about a third of babies with grade 3 or 4 die because of it or may suffer severe long-term damage.
If treated properly and caught early on though, the prognosis of most cases can be very promising.

Intraventricular hemorrhage prevention tips:

It’s hard to prevent intraventricular hemorrhage, aside from certain medications that can lessen risk and, of course, providing excellent care to premature babies.
Other factors that can help decrease the chance include:

• Giving birth in a hospital with a NICU (so babies can be more quickly treated and with minimal movement)
• Delayed cord clamping or umbilical cord milking
• Taking vitamin K before delivery (especially for women who may take medications that alter blood flow and increase bleeding risks)

If your baby is premature or you were particularly worried about this condition, speak to your doctor to see what measures can be taken to help prevent and treat intraventricular hemorrhage.

Compiled using information from the following sources:

1. NIH.gov. U.S. National Library of Medicine. “Intraventricular hemorrhage of the newborn”

2. StanfordChildrens.org. Standford Medicine. “Intraventricular Hemorrhage”

3. CerebralPalsy.org.“Intraventricular Hemorrhage, Or IVH”

4. URMC.Rochester.edu The University of Rochester Medical Center: Health Encyclopedia. “Intraventricular Hemorrhage”

5. Boston Children’s Hospital: Intraventricular Hemorrhage.

The post Intraventricular Hemorrhage (IVH) appeared first on American Pregnancy Association.

Who should seek genetic counseling?

According to the Centers for Disease Control and Prevention (CDC), approximately 3% of babies born in the United States will have a birth defect. Genetic counseling is not necessary for the majority of couples who are pregnant or planning on getting pregnant.

Genetic counseling should be considered by couples who have one or more of the following risk factors:

• Abnormal results from routine prenatal testing.
• Amniocentesis results that identify a chromosomal defect.
• An inherited disease present in a close family member.
• A child with a birth defect or genetic disorder.
• Mother over 35 years old.

The following represents some of the ethnic groups which have a greater chance of certain genetic defects:

• Ethnic Group
• Genetic Defect
• African Americans
• Sickle Cell Anemia
• Central or Eastern Jews
• Tay – Sachs disease
• Italian, Greek, Middle Eastern
• Thalassemia

What is involved in genetic counseling?

When you are working with a genetic counselor, there are a number of things you should expect. You should start with your blood relatives on both sides to begin creating a comprehensive background on specific diseases and why they occurred. This is probably the most important part of evaluating genetic risks.

To help facilitate this evaluation, a health care professional will probably ask some of the following questions:

• Do you have a history of diabetes, hypertension, cancer, or twins?
• Are there any diseases that seem to run in your family?
• Is there a history of genetic diseases like cystic fibrosis, hemophilia, or muscular dystrophy?
• Is there anyone with an intellectual disability or any kind of birth defect?
• Have any of your sisters, cousins, or other relatives had problems with their pregnancies?
• Are your parents alive, and are they healthy?
• What is your ethnic background?
• Is there any reason that you suspect that your baby may be born with a birth defect or other medical problem?

What are genes and chromosomes?

A gene is a segment of DNA that is coded to pass along a certain trait; it has a specific task (i.e., determining the color of your eyes). Genes are the simplest building blocks of heredity. They are grouped together in specific patterns within a person’s chromosomes, forming the unique “blueprint” for every physical and biological characteristic of that person.
Chromosomes are made up of deoxyribonucleic acid (DNA) molecules. Humans have 46 chromosomes arranged in pairs in every living cell of our bodies. When the egg and sperm join at conception, half of each chromosomal pair is inherited from each parent.

What causes genetic disorders?

Genetic disorders may be caused by a variety of factors. Genetic disorders may be caused by chromosomal abnormalities. Disorders may also be caused by a single gene.
These may be identified as dominant, recessive, or X-linked disorders:

• Dominant Disorders: One gene is defective, and it overrides the normal gene.
• Recessive Disorders: Both genes in the pair are defective.
• X-linked Disorders: A defective gene is on an X chromosome, which may be recessive or dominant.

The following is a list of potential explanations for birth defects or genetic disorders:

• Spontaneous mutation
• Errors in cell division
• Single-gene changes because of environmental exposure to chemicals or radiation
• Defect in the development of the sperm or the egg
• Recreational drug use
• Exposure to lead or industrial chemicals

Want to Know More?

• Things to Know About Ovulation
• Track Your Ovulation
• Are You Trying to Get Pregnant
• Preconception Health for Women
• Signs of Ovulation

The post Genetic Counseling appeared first on American Pregnancy Association.

Congenital CMV Birth Defects:  In The Womb

Not all babies born to CMV-infected mothers develop congenital CMV, and not all that do pick up CMV will experience long-term effects. However, it is important to be aware of the risks because some of them can affect how your child will live his or her life.

What is the risk of passing CMV to my baby during pregnancy?

In general, 1 of every 150 to 200 babies in the USA is born with congenital CMV. This makes CMV the most frequent congenital viral infection. Though this seems like a large percentage of births, only 1 in 5 of these infants born with congenital CMV will experience any adverse symptoms or long-term issues.
The virus has the potential to travel through the mother’s blood and pass through the placenta, infecting the developing baby.

If you have the virus before you become pregnant:  There is a very low chance of passing it to your baby. The chance heightens if you are reinfected with a different strain of the virus (see statistic below), or if you have a reactivation of the virus during your pregnancy.

If you contract the virus (primary infection) during your pregnancy:  It is more likely to pass on CMV to your baby if you get a primary infection during the pregnancy than it is to pass it if you were previously infected. If you have a primary CMV infection during pregnancy, there is approximately a 40% chance of passing the virus to your baby.
The risk of transmission from mother to baby is highest if she gets a primary CMV infection in the third trimester (40-70%) and is lowest if the primary infection begins in the first or second trimesters (30-40%).

Can congenital CMV harm my developing baby?

CMV can pass to your baby at any time during your pregnancy, and any congenital CMV symptoms that are present after birth develop in the womb. So in a sense, yes, CMV can harm your developing baby.
However, the risk of death to a fetus from contracting CMV is extremely small. Doctors have witness seizures in a fetus after contracting congenital CMV, but most of these babies are able to survive and thrive well past birth.
There are quite a few abnormal ultrasound readings that may indicate a congenital CMV infection, including but not limited to:

• Organomegaly (abnormal organ enlargement) – spleen, liver, and others
• Abnormal dilation of lateral brain ventricles, the ureter, and/or the renal pelvis
• Intracranial calcifications
• Microcephaly
• Placental thickening
• Fetal hydrops
• Ascites
• Hepatic, intestinal, or periventricular echodensities

One or more of these may indicate congenital CMV; however, many of these abnormalities are linked to a plethora of other diseases or syndromes.

If there are concerns, are there tests to check my baby’s CMV status in utero?

Yes, there is one test that can test your growing baby’s congenital CMV status while still in the womb. This procedure is called amniocentesis, which involves the ultrasound-guided insertion of a needle into the amniotic sac to collect a sample of amniotic fluid for testing. Amniocentesis serves to diagnose a list of genetic abnormalities or diseases.
This testing is usually performed near delivery (end of 3rd trimester) or in the 14-20 week range. Though amniocentesis can give parents and doctors a better idea of any issues or defects the baby may face, there are some risks to the procedure:

• Miscarriage (1/200 – 1/400 pregnancies using amniocentesis)
• Infection
• Amniotic fluid leakage or full break of the sac
• Accidental poke of the fetus with needle
• Potential to mix the mother’s blood with fetus’s

If there were any abnormalities on an ultrasound, have a talk with your doctor about your options and the risk to you and your baby with amniocentesis. Many times, the benefits of knowing the results outweigh the risks. This is a personal decision, and not one your doctor can make for you, though he/she may suggest a certain route.
Perhaps the greatest benefit of determining the baby’s congenital CMV status is the potential for rapid treatment following birth. If there are any symptoms of congenital CMV present, the baby may be able to receive faster treatment with antivirals than if testing were performed after birth only.

Are there any treatments if my baby is diagnosed with congenital CMV in the womb?

Although not many, there are a couple of routes you and your doctor(s) can explore after finding out that your developing baby has congenital CMV following amniocentesis.
One option is to ask about using CMV-IGIV. This involves an intravenous (IV) influx of anti-CMV immunoglobulins (IG) or antibodies to help the baby and mother fight a primary CMV infection. This treatment has not (of yet) been proven highly effective, and is not available everywhere.
Another option is to explore any current clinical trials. To research what may be available to you, speak with your doctor, contact the National CMV Foundation here, or visit the National Institutes of Health’s (NIH) clinical trial search.
It is important to remember that not all options are available to everyone, and may depend on your doctor or hospital, accessibility of a proposed treatment, your medical background, the stage of a specific clinical trial, and/or your ability to travel.
Sometimes, the best treatment plan will be to wait until after birth to start the infant on antiviral therapies.

Congenital CMV Birth Defects: Types

Which birth defects are associated with congenital CMV?

The main ways that congenital CMV can affect an infant immediately or overt time are:

1. Hearing loss
2. Mental disability
3. Seizures
4. Vision loss
5. Decreased muscle strength (including cerebral palsy)
6. Decreased coordination
7. Microcephaly

However, it is important to remember that the majority of infants born with CMV do not suffer any long-term effects or ailments.

What should I expect after birth?

If you and your doctors are aware that you’ve had a reactivation of the virus or primary infection of CMV during your pregnancy, they will take either saliva, urine, or blood sample from your baby in the first 2-3 weeks of life to see if your baby has congenital CMV. These tests check for the live virus or viral DNA rather than for antibodies since the former two are more accurate. They will also look for signs of CMV in your newborn.
Of those infants who test positive for congenital CMV, about 10% of them will have symptoms associated with congenital CMV that are apparent at birth:

• microcephaly
• pre-term birth
• low birth-weight
• seizures
• problems with or an enlarged liver or spleen
• hearing loss

Of that 10% who show signs at birth, 40-60% will have long-term difficulties, such as:

• hearing loss
• mental disability
• vision loss
• seizures
• coordination loss
• decreased muscle tone or ability (including cerebral palsy)
• calcifications in the brain
• feeding or sleeping issues
• death (very rare)

Hearing loss appears to be the only difficulty that may develop later on in infants who have congenital CMV but do not present with symptoms at birth. This accounts for approximately 10-20% of infants with CMV who do not present symptoms at birth.
So, in review:

10% of babies with congenital CMV that are symptomatic at birth will have long-term difficulties of some form.
10-20% of babies with congenital CMV that are NOT symptomatic at birth will have some degree of long-term hearing loss.

Congenital CMV Birth Defects:  Treatments & Beyond

Are there any treatments for babies born with symptomatic congenital CMV?

Other than treating the symptoms, the only current treatment available is antiviral medication. Ganciclovir and Valganciclovir are the two options for antivirals, but both have potentially severe side effects. However, if your pediatrician approves, it may be a good and necessary step for your family.

These two antivirals may combat initial symptoms from becoming more severe long-term effects. That does not mean that any and all symptoms will cease, but it could mean a decrease in severity, especially in cases with hearing loss and developmental concerns.

What could a diagnosis of congenital CMV mean for my child, even if they don’t have symptoms at birth?

Babies that receive a diagnosis of congenital CMV after birth yet have no symptoms may have no long-term difficulties at all. However, since some are known to develop over time, the CDC suggests that these children have regularly scheduled hearing and vision checks throughout childhood and adolescence.
Since developmental (mental) delays can also occur months or years after an asymptomatic appearance at birth, your child should be monitored for any signs of developmental difficulty as he/she grows up.

Are there resources to help me as a parent of a child/infant living with a permanent disability from CMV?

Yes, there are! There are quite a few organizations that are specific to congenital CMV and helping parents and their affected children through the symptoms and life changes.
First of all, there are organizations specific to some of the common birth defects of CMV that can help support you on your unique journey:

• Cerebral Palsy:  CerebralPalsy.org, Cerebral Palsy Guidance, United Cerebral Palsy
• Hearing Loss:  Hands & Voices, NCHAM, Alexander Graham Bell Association, National Center on Deaf-Blindness
• Vision Loss:  National Federation of the Blind, National Center on Deaf-Blindness
• Epilepsy:  Epilepsy Foundation

There are also some organizations specific to congenital CMV support as well:

• The Congenital CMV Disease Research Clinic & Directory at Baylor in Houston, TX (connection to a parent support network)
• CMV Blog, Educational downloads, and Parent Stories from the National CMV Foundation
• (UK) Social Media Support Groups, Resources, Become a Member (with a support team) at CMV Action
• (AU) Family Support Forum & other Resources at CMV Australia
• Check out Facebook groups and personal blogs for more personal stories of families affected by congenital CMV

Prevention of CMV Before & During Pregnancy

It’s hard to believe that with so many issues with congenital CMV in the world today, that it is actually a preventable disease. Before and during pregnancy, you can take basic hygiene steps to avoid becoming infected. Prior to pregnancy, you can find out your CMV status.

Before You Become Pregnant:

As you and your partner are planning to conceive, it is a good idea to make yourself aware of your own CMV status. To do this, you can request a CMV antibody test for IgG and IgM (two types of antibodies) from your doctor.
If you test positive for a primary infection (IgG & IgM +), it is suggested to wait until your IgM returns to a low enough level to signify a non-primary infection before trying to conceive (TTC).
If you are either not infected (IgG & IgM -) or have indications of a non-primary/past infection (IgG + and IgM -), then there is usually not a reason to wait to TTC. In the case of no previous infection, the largest concern during pregnancy is a new CMV infection (see “After” for tips on prevention).

After You Become Pregnant:

There is no way to guarantee that you will not pick up CMV or experience a reactivation. However, here are some things that you can do or avoid to reduce your chances of a primary CMV infection.
DO:

• Wash your hands with soap and warm water often, especially:
  • After playing with children
  • After coming into contact with anyone’s, especially children’s, saliva or tears
  • Before touching your face (eyes, mouth, nose – where a virus could enter)
  • After using the restroom
  • After changing a diaper, using a tissue, etc.
• Eat healthily and exercise during your pregnancy (keeps the immune system strong)
• Use a condom each time you are sexually active to avoid exchanging fluids
• Clean children’s toys and counters/handles that children often touch

Do NOT:

• Have sexual contact, including kissing and any type of sex (especially unprotected), with new partners
• Share drinks or utensils with others
• Kiss children on the mouth (forehead & cheeks are safer to avoid saliva)

Basically, practicing general hygiene, avoiding new sexual partners, and limiting contact with children’s saliva, tears, etc. can help you avoid CMV.
Women who work in daycares or with children tend to have a higher incidence of contracting CMV. If this applies to you, talk to your doctor about your risk, wash your hands often, and don’t touch your face at work.

CMV and Breastfeeding

You’ve probably heard how beneficial breastfeeding is. But, what about when there’s a concern about the mom having some sort of sickness, like CMV? As always, we suggest speaking with your doctor if you know you’ve had a primary CMV infection during your pregnancy and wish to breastfeed.

If your baby is tested and confirmed for congenital CMV, then there should not be any issues with breastfeeding since both you and the baby already have the virus.

If you know you (1) have/had a primary infection during your pregnancy, (2) may have had a reactivation of the virus, or (3) are high-risk for contracting CMV (ex. work in a daycare), then you will want to have your baby’s test results and, if negative, speak with your doctor before breastfeeding. You may also be able to have your breast milk tested for the live virus.

If your baby does have congenital CMV, then it should be safe for you to breastfeed since transmission has already occurred. A conversation with your doctor will help you weigh the benefits and risks if your baby does not have congenital CMV.

What if my baby gets CMV from me in my breast milk?

Typically, if a baby gets CMV from a mother’s breast milk after birth, there are natural anti-CMV antibodies in the baby’s system. These are passed from the mother to the baby in utero (3rd trimester) or in the breast milk itself. Most infants (and humans of any age) who get CMV do not have any symptoms at all and may be minor if there are any.

When CMV is transferred to an infant through breast milk and/or other fluids after birth, it is termed perinatal CMV.
The greatest concern comes when the infant is preterm and is not born with congenital CMV. Pre-term infants are not expected to have received the full dose of maternal antibodies during the 3rd trimester and are thus less protected against CMV in the breastmilk. The infant may develop more serious (but treatable & temporary) symptoms, such as:

• enlarged or infected spleen or liver
• sepsis-like syndrome (can lead to apnea, slow heart rate, or distended abdomen)
• low platelet count
• low white blood cell count
• high liver enzyme amount

Though much of this sounds serious, most infants are able to spontaneously recover. Some may be treated with an antiviral, such as ganciclovir or valganciclovir, to help rid the infection. These medications have the potential for serious side effects, but your doctor will help you decide if the benefits outweigh the risks.

Compiled using information from the following sources:

1. National CMV Foundation.

https://www.nationalcmv.org/home.aspx

2. Organization of Teratology Information Specialists (OTIS, 2017): Cytomegalovirus (CMV) Fact Sheet. Available through Mother To Baby.

https://mothertobaby.org/fact-sheets/cytomegalovirus-cmv-pregnancy/pdf/

3. Centers for Disease Control & Prevention: Cytomegalovirus (CMV) and Congenital CMV Infection.

https://www.cdc.gov/cmv/overview.html

https://www.cdc.gov/cmv/clinical/congenital-cmv.html

4. Medela Breastfeeding USA: Education Research on CMV.

https://www.medelabreastfeedingus.com/assets/file/CMV%20Transmission%20and%20Breastmilk%201547692B.pdf

5. CMV Action

https://cmvaction.org.uk/

The post Congenital CMV and Birth Defects appeared first on American Pregnancy Association.

What is PKU and what causes it?

Phenylketonuria (PKU) is a rare, autosomal recessive disease that prevents the body from breaking down one of the amino acids found in nearly all proteins:  phenylalanine (Phe). The gene affected, PAH, encodes phenylalanine hydroxylase, which converts phenylalanine to tyrosine (another amino acid) in the liver. When this conversion does not happen, phenylalanine builds up in the blood and causes problems, particularly in the brain.

It occurs when an abnormal or mutated PAH gene from both the mother and the father is passed on to the baby. Each person has two copies of this gene, one from each parent. Two mutated or deleted PAH genes causes PKU. This can mean one of four things:

• The parents are both carriers of 1 copy of the mutated gene each (but do not have the disease)
• One parent has the disease and the other is a carrier of a mutated gene
• Both parents have the disease, or
• One parent is a carrier of a mutated gene and the other abnormal gene came about through a mutation or deletion of the gene of the other’s egg or sperm.

There are a few other common names for Phenylketonuria (PKU) to be aware of:

• Folling’s disease
• Phenylalanine hydroxylase deficiency
• PAH deficiency

How common is PKU in infants?

Between 1 in 10,000 to 15,000 newborns are affected in the USA. It is considered a relatively rare disease.
If you and your partner’s families have a history of PKU, you may want to consider genetic counseling to understand further your chances of conceiving a child with the condition.

Typically, if both parents are carriers of the mutated gene (each has one mutated copy), then only 25% of each pregnancy is at risk to have the full disease. This also means that 50% of each pregnancy is likely to result in a child who is also a carrier of the mutated gene.

What are the symptoms of PKU?

Typically, a newborn with PKU is identified in the newborn screening and starts treatment immediately, meaning that it is unlikely even to notice symptoms. If it is not caught in the newborn screen, though highly unlikely, by the time it is detectable through symptoms the brain damage is often irreversible.

If not diagnosed and placed on a PKU diet soon after birth, the following symptoms may be detected:

• Lethargy (weakness)
• Poor feeding habits
• Vomiting
• Irritability
• Skin rash with blisters/pimples (eczema-like)
• Musty (“mouse-like”) body odor

If not kept on the PKU diet, the following are the most common neurological symptoms:

• Seizures
• Spastic muscle movements
• Hypertonicity (tight muscles)
• Increased tendon reflexes
• Abnormal EEG
• Physical disability (rare)

How does PKU cause brain damage or mental disability?

If untreated or poorly regulated, the high levels of Phe in the blood build up in the brain. These elevated levels of Phe cause the destruction of the fatty insulating layer called myelin that surrounds nerve fibers of the brain. Without myelin, the nerves cannot fire or communicate correctly, resulting in mental retardation.

How is PKU diagnosed?

PKU is diagnosed through a routine neonatal screening performed at the hospital by law in the USA, as well as in many other developed countries. The test is performed as soon as the child is born and involves taking a drop of blood from the baby’s heel. This way, the healthcare staff, and the child’s parents can provide adequate treatment to prevent brain damage.

What kind of treatments are available?

The treatment available for PKU consists of a slew of dietary restrictions. This includes limiting protein intake; however, this must be done cautiously to prevent mental retardation, as well as neurological and dermatological problems. The following are common high-protein/high phenylalanine foods that should be avoided:

• Dairy (milk, cheese, yogurt, etc.)
• Eggs
• Nuts, beans, and legumes
• Soybeans and peas
• Poultry, beef, and pork
• Fish and shellfish
• Beer (later in life)
• The artificial sweetener aspartame

In the United States, it is required by law that if a food contains aspartame (ex. diet sodas), it must include the label:

Phenylketonurics: Contains phenylalanine.

Since the PKU diet doesn’t allow a large amount of protein, people with PKU may lack necessary nutrients. This is why it is important to talk with your doctor and/or a nutritionist to ensure you or your child receive all the necessary nutrients.
KUVAN is a unique formula approved by the FDA to be used when following the PKU treatment. Kuvan is a synthetic form of a co-factor (BH4) that joins with the PAH enzyme to convert phenylalanine to tyrosine. For many PKU patients, Kuvan can help to lower the amount of phenylalanine in the body. It is a daily oral tablet or powder form that can be mixed into a drink.

The same company that developed Kuvan began Phase III clinical trials for a new treatment in 2016, called Pegvaliase, or PEG-PAL. PEG-PAL is a once-daily injection that has been shown to profoundly reduce the amount of phenylalanine in the body, even down to normal levels. Phase III trials did not show any improvement in mental concentration or ability, however. It may be released for use after further talks with the FDA.

Is there a cure for PKU?

Since PKU is a genetic disease, it does not have a cure. The mutations of the two copies of the PAH gene are present in every cell in the affected person’s body. As mentioned above, there are treatments available that can control the circulating amount of phenylalanine in the body and reduce it to a safe level. Keeping a specific low-Phe (low protein) diet can be a very effective treatment as well.

As mentioned above, there are treatments available, such as keeping a specific low-Phe (low protein) diet. There are also medications that can control the circulating amount of phenylalanine in the body and reduce it to a safe level (the examples above are Kuvan and PEG-PAL).

Are there other conditions related to PKU?

There are a few conditions that also can cause an excess of phenylalanine in the blood. The disorder that is most closely related to PKU is called tetrahydrobiopterin deficiency phenylalaninemia, or tetrahydrobiopterin (BH4) deficiency. Persons with this disorder may have perfectly healthy PAH genes, and instead have mutations in the gene that encodes BH4, a coenzyme that binds with phenylalanine hydroxylase to help convert phenylalanine to tyrosine. It is also active with other enzymes and, along with high Phe levels, can result in low neurotransmitter levels. This can cause neurological problems similar to those seen with PKU.

This condition is also infrequent and requires immediate treatment to prevent long-term neurological and movement issues.

Mothers with PKU:

I have PKU, and I want to have a baby/am already pregnant. Are there any risks for my baby?

The greatest risks come if a woman is untreated for PKU/does not follow a PKU diet and/or take Phe-reducing medications. If a woman goes untreated, she can present problems in pregnancies such as an increase in spontaneous miscarriages or delayed fetal growth. Additionally, pregnant women who have untreated PKU are more likely to have children with microcephaly, congenital heart disease, and facial abnormalities. The association with these issues is greater at higher maternal levels of phenylalanine.
The important thing to remember is that the association with these issues is more significant at higher maternal levels of phenylalanine. Therefore, if you have PKU and are in a treatment regimen and have controlled serum levels of Phe, your chances of having a baby with the issues above are considerably lower. If you are concerned, take the time to speak with your doctor about steps to take before you conceive, or things you may need to focus on now that you are pregnant.

Doctors recommend that if a woman with PKU wants to conceive and is not currently on a PKU-restricted diet or Phe-reducing medications, that she begin these regimens before conceiving.

If I have a baby with PKU, can he or she breastfeed?

Since breastmilk contains a significant amount of protein, and thus phenylalanine, no – it is not considered safe to breastfeed your child. In this case, the risks of breastfeeding outweigh the benefits. The doctors will prescribe appropriate formula and medication so that your baby can stay at a safe level of phenylalanine.

If I have PKU, does that mean my baby will too?

This depends completely on the father. If you as the mother have classical PKU (two severely mutated copies of the PAH gene), then you will pass one of these mutated copies onto your baby, making him or her a carrier. If the father does not have it and is not a carrier of a mutated gene copy, then there is nearly no chance of your baby having classical PKU (the “nearly no” refers to the highly unlikely possibility of a sperm having a random mutation in that gene). If the father is a carrier of a mutated PAH gene, then there is a 50% chance that your baby will have PKU, and a 50% chance that the baby will only be a carrier.

If you have PKU and you know that your partner is a carrier, you may want to speak with a genetic counselor prior to trying to conceive.

Compiled using information from the following sources:

1. National Organization for Rare Disorders (NORD): Phenylketonuria.

Phenylketonuria

2. US National Library of Medicine: Genetics Home Reference: Phenylketonuria.

3. National Institute of Child Health and Human Development: Phenylketonuria (PKU).

https://nichd.nih.gov/health/topics/pku/conditioninfo/Pages/treatments.aspx

4. National PKU Alliance: Education: About PKU.

https://www.npkua.org/Education/About-PKU

5. ClinicalTrials.gov: Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU.

https://clinicaltrials.gov/ct2/show/NCT01889862

6. Rare Disease Report (RareDR): PKU News: BioMarin Submits Peg-Pal Application to the FDA.

Want to Know More?

• Genetic Counseling
• Progeria: Hutchinson-Gilford Progeria Syndrome (HGPS)

The post Phenylketonuria (PKU) appeared first on American Pregnancy Association.

Cerebral Palsy: Causes, Treatment and Prevention

Many children with cerebral palsy have other problems that require treatment. These include mental retardation, learning disabilities, seizures, vision, hearing and speech problems.

How common is cerebral palsy?

Cerebral palsy usually is not diagnosed until a child is about 2 to 3 years of age. Approximately 2 to 3 children in 1,000 over the age of three have cerebral palsy. About 500,000 children and adults of all ages in this country have cerebral palsy.

What are the different types?

There are three major types of cerebral palsy, and some individuals may have symptoms of more than one type.

Spastic Cerebral Palsy

About 70-80% of affected individuals have spastic cerebral palsy, in which muscles are stiff, making movement difficult. When both legs are affected (spastic diplegia), a child may have difficulty walking because tight muscles in the hips and legs cause legs to turn inward and cross at the knees (called scissoring).
In other cases, only one side of the body is affected (spastic hemiplegia), often with the arm more severely affected than the leg.

Most severe is spastic quadriplegia, in which all four limbs and the trunk are affected, often along with the muscles controlling the mouth and tongue. Children with spastic quadriplegia often have mental retardation and other problems.

Athetoid or Dyskinetic Cerebral Palsy

About 10-20% of affected individuals have the athetoid form of cerebral palsy, which affects the entire body. It is characterized by fluctuations in muscle tone (varying from too tight to too loose) and sometimes is associated with uncontrolled movements, which can be slow and writhing or rapid and jerky.

Children often have trouble learning to control their bodies well enough to sit and walk. Because the muscles of the face and tongue can be affected, there can also be difficulties with sucking, swallowing, and speech.

Ataxic Cerebral Palsy

About 5-10% of affected individuals have the ataxic form, which affects balance and coordination. They may walk with an unsteady gait with feet far apart and have difficulty with motions that require precise coordination, such as writing.

What are the causes of cerebral palsy during pregnancy?

In about 70% of cases, cerebral palsy results from events occurring before birth that can disrupt normal development of the brain. Contrary to common belief, lack of oxygen reaching the fetus during labor and delivery contributes to only a small minority of cases of cerebral palsy, according to a 2003 report by the American College of Obstetricians and Gynecologists (ACOG) and the American Academy of Pediatrics (AAP).

A small number of babies also develop brain injuries in the first months or years of life that can result in cerebral palsy. In many cases, the cause of cerebral palsy in a child is unknown.

Some of the known causes of cerebral palsy include:

• Infections during pregnancy – Certain infections in the mother, including rubella (German measles), cytomegalovirus (a usually mild viral infection) and toxoplasmosis (a usually mild parasitic infection) can cause brain damage and result in cerebral palsy. Recent studies suggest that maternal infections involving the placental membranes (chorioamnionitis) may contribute to cerebral palsy in full-term as well as preterm babies (those born before 37 completed weeks of pregnancy). A 2003 study at the University of California at San Francisco found that full-term babies were four times more likely to develop cerebral palsy if they were exposed to chorioamnionitis in the womb. Reproductive/urinary tract infections also may increase the risk of preterm delivery, another risk factor for cerebral palsy.
• Insufficient oxygen reaching the fetus – When the placenta is not functioning properly or it tears away from the wall of the uterus before delivery; the fetus may not receive sufficient oxygen.
• Prematurity – Premature babies who weigh less than 3 1/3 pounds are up to 30 times more likely to develop cerebral palsy than full-term babies. Many of these tiny babies suffer from bleeding in the brain, which can damage delicate brain tissue. They may also develop periventricular leukomalacia, which is the destruction of nerves around the fluid-filled cavities (ventricles) in the brain.
• Asphyxia during labor and delivery – Until recently, it was widely believed that asphyxia (lack of oxygen) during a difficult delivery was the cause of most cases of cerebral palsy. The ACOG/AAP report shows that fewer than 10 percent of the types of brain injuries that can result in cerebral palsy is caused by asphyxia.
• Blood Diseases – Rh disease, an incompatibility between the blood of the mother and her fetus, can cause severe jaundice and brain damage, resulting in cerebral palsy. Rh disease usually can be prevented by giving an Rh-negative woman an injection of a blood product called Rh immune globulin around the 28th week of pregnancy and again after the birth of an Rh-positive baby. Blood clotting disorders (thrombophilias) in either mother or baby also may increase the risk.
• Severe jaundice – Jaundice, yellowing of the skin and the whites of the eyes caused by the build-up of a pigment called bilirubin in the blood, occasionally becomes severe. Without treatment, severe jaundice can pose a risk of permanent brain damage resulting in athetoid cerebral palsy.
• Other birth defects – Babies with brain malformations, numerous genetic diseases, and other physical birth defects are at increased risk of cerebral palsy.
• Acquired cerebral palsy– About 10 percent of children with cerebral palsy acquire it after birth due to brain injuries that occur during the first two years of life. The most common causes of such injuries are brain infections, such as meningitis, and head injuries.

How is it diagnosed?

Parents may become concerned about their baby’s or toddler’s development if the child is having problems learning to roll over, sit, crawl or walk. Parents always should discuss these concerns with their baby’s pediatrician.

Cerebral palsy is diagnosed mainly by evaluating how a baby or young child moves. The doctor will evaluate the child’s muscle tone, which can make them appear floppy. Others have increased muscle tone, which makes them appear stiff, or variable muscle tone (increased at times and low at other times).

The doctor will check the child’s reflexes and look to see if the baby has developed a preference for using his right or left hand.

While most babies do not develop a hand preference (become right- or left-handed) until at least 12 months of age, some babies with cerebral palsy do so before six months of age. Another important sign of cerebral palsy is the persistence of certain reflexes, called primitive reflexes, which are normal in younger infants, but generally, disappear by 6 to 12 months of age.

The doctor also will take a careful medical history, and attempt to rule out any other disorders that could be causing the symptoms.

Health care providers may also suggest brain imaging tests such as magnetic resonance imaging (MRI), computed tomography (CT scan) or ultrasound. These tests sometimes can help identify the cause of cerebral palsy. Ultrasound often is recommended in preterm babies who are considered at risk of cerebral palsy to help diagnose brain abnormalities that are frequently associated with cerebral palsy (allowing therapy to begin early).

In some children with cerebral palsy, especially those who are mildly affected, brain imaging tests show no abnormalities, suggesting that microscopically small areas of brain damage can cause symptoms. About half of babies who are diagnosed with mild cerebral palsy appear to outgrow their symptoms.

How is it treated?

A team of health care professionals works with the child and family to identify the child’s needs and create an individualized treatment plan to help the child reach his or her maximum potential. The team is generally coordinated by one health care professional and may include pediatricians, physical medicine and rehabilitation physicians, orthopedic surgeons, physical and occupational therapists, ophthalmologists, speech/language pathologists, social workers, and psychologists.

The child usually will begin physical therapy soon after diagnosis. Therapy enhances motor skills (such as sitting and walking), improves muscle strength and helps prevent contractures (shortening of muscles that limit joint movement).
Sometimes braces, splints or casts are used along with physical therapy to help prevent contractures and to improve the function of the hands or legs. If contractures are severe, surgery may be recommended to lengthen affected muscles.
Drugs sometimes are recommended to ease spasticity or to reduce abnormal movement. Unfortunately, oral drug treatment is often not very helpful. Sometimes an injection of drugs such as Botox (botulinum toxin) directly into spastic muscles is helpful, and the effects may last several months (allowing for more effective physical therapy during that time).

A new type of drug treatment is showing promise in children with moderate to severe spasticity. During a surgical procedure, a pump is implanted under the skin that continuously delivers the anti-spasmodic drug baclofen.
For some children with spasticity affecting both legs, a surgical technique called selective dorsal rhizotomy may permanently reduce spasticity and improve the ability to sit, stand and walk. In this procedure, doctors identify and cut some of the nerve fibers that are contributing most to spasticity.

This procedure usually is done when a child is between 2 and 7 years of age. According to UCP, this procedure is usually recommended only for children with severe leg spasticity who have not responded well to other treatments.
Occupational therapists work with the child on skills required for daily living, including feeding and dressing. Children with speech problems work with a speech therapist or, in more severe cases, learn to use a computerized voice synthesizer that can speak for them. Computers have become an important tool for children and adults with cerebral palsy in terms of therapy, education, recreation, and employment.

Some children with cerebral palsy may benefit from the many mechanical aids available today, including walkers, positioning devices (to allow a child with abnormal posture to stand correctly), customized wheelchairs, specially adapted scooters, and tricycles.

Can cerebral palsy be prevented?

In many cases, the cause of cerebral palsy is not known, so there is nothing that can be done to prevent it. In spite of improvements in the care of pregnant women and sick babies, the number of babies with cerebral palsy seems to be increasing. This is due, in part, to the survival of an increasing number of very premature babies, who are at high risk of cerebral palsy.

However, some causes of cerebral palsy have been identified, and cases of cerebral palsy that result from them often can be prevented.  Rh disease and congenital rubella syndrome used to be important causes of cerebral palsy. Now Rh disease usually can be prevented when an Rh-negative pregnant woman receives appropriate care. Women can be tested for immunity to rubella before pregnancy and be vaccinated if they are not immune.

Babies with severe jaundice can be treated with special lights (phototherapy). Head injuries in babies, a significant cause of cerebral palsy in the early months of life, often can be prevented when babies ride in car seats properly positioned in the back seat of the car. Routine vaccination of babies (with the Hib vaccine) prevents many cases of meningitis, another cause of brain damage in the early months.

A woman can help reduce her risk of preterm delivery when she seeks early monitoring (ideally starting with a pre-pregnancy visit) and regular prenatal care and avoids cigarettes, alcohol and illicit drugs.

Want to Know More?

• United Cerebral Palsy: https://www.ucp.org
• Tips for Preventing Birth Defects
• Supplements for Fertility and Prenatal Wellness

The post Cerebral Palsy appeared first on American Pregnancy Association.

• Tip 1. Provide wellness education in your company orientation and review processes that include prevention tips for heart disease, cancer, diabetes, and birth defects.
• Tip 2. Have your benefits program includes coverage for annual wellness checks and genetic counseling for those considering parenthood.
• Tip 3. Provide access to organizations that offer prevention education, such as the American Heart Association and the American Cancer Society. These organizations could be listed in your benefits manual and in links on your company website.

Organizations That Can Help:

• March of Dimes
  National Birth Defects Prevention Network

• Tip 4. Create a health and wellness display in your company’s break room, or provide access to educational pamphlets and brochures that address common health concerns, including birth defect prevention.
• Tip 5. Inform customers that January is Birth Defects Prevention Month. Place a poster near the checkout or on a bulletin board. Incorporate a simple sentence in your promotional email campaigns, such as:

“January is National Birth Defects Prevention Month. Visit the American Pregnancy Association  (www.americanpregnancy.org), March of Dimes (www.modimes.org), and the National Birth Defects Prevention Network (www.nbdpn.org) for more information.”
One email to your customer and vendor list may have a domino effect in creating awareness of birth defect prevention options. It is free and could easily prompt someone considering parenthood to have a wellness exam or seek genetic counseling.

Why Implement a Company Birth Defects Prevention Campaign?

• You communicate to employees, customers, and the community that you care about their well being. This helps create positive community relations.
• You can help prevent the occurrence of a birth defect for an employee or someone in your community.
• It may reduce the amount of public funding spent on neonatal care following the birth of a low-birth-weight baby.
• For self-insured companies, investing in wellness programs and genetic counseling can reduce the excessive monies spent on neonatal care or the additional medical care necessary for managing a child with a birth defect.

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What Is The Zika Virus?

The Zika fever is an illness caused by Zika virus. Zika fever and the Zika virus during pregnancy has been declared a global public health emergency by the World Health Organization. The health emergency is not related to the general public but rather to expecting mothers and those looking to conceive.
Zika fever has been connected to several birth defects. Most research links the virus and fever to microcephaly, which is the development of smaller heads in babies with possible brain damage.

What Are The Symptoms?

Zika virus causes symptoms such as fever, rash, headaches, joint pain, and/or red eyes lasting anywhere from 2-7 days. Zika has been linked to major birth defects, including microcephaly and Guillain-Barré syndrome in the babies of women who are pregnant at the time they are infected with the virus.
Although the research has not yet drawn a clear link between other neurological complications and the virus, the CDC and WHO are strongly cautioning pregnant women from traveling to areas where this virus is a known risk.

How Does Zika Spread?

Zika virus is a virus that is spread by Aedes mosquitos. There is also evidence that it can be spread through blood transfusion and sexual contact, vaginal and anal. It is unknown if the virus can be spread through oral sex, but considering it is spread through semen, there is a possibility for it to be spread through oral sex. There has also been a report of a man passing it to his young child through his tears and/or sweat.
Semen can also contain the virus for a longer period than blood. The virus is known to have the ability to spread through men who currently have symptoms, as well as before they start and after they end.
Currently, there is no vaccine or cure. At this time, the CDC strongly cautions against pregnant women or women who are trying to get pregnant from traveling to countries and areas of the USA where Zika is known to be a risk.
The WHO encourages those traveling to areas where the virus is present to not engage in any sexual activity for at least 8 weeks after returning from the location, even when no symptoms are experienced. For women looking to get pregnant, it is advised you wait 8 weeks after coming in contact with the Zika virus or traveling in the area.
Men are cautioned to wait at least 6 months after traveling to a Zika-affected area or after experiencing any Zika virus symptoms.

How To Prevent Zika Fever

If you must travel to a country or area of the USA where Zika is a risk, there are a few precautions you can take. Wear long sleeves and pants to cover as much skin as possible. Use insect repellant whenever possible. Stay indoors during the daytime, which is when mosquitos that carry Zika are most active (they can still bite at night).
If you begin to experience any symptoms, see a doctor immediately. Do not try to treat Zika at home if you are pregnant.
Men who experience symptoms of the Zika virus should use condoms or avoid sexual intercourse for at least 6 months. Women who are trying to get pregnant and previously had symptoms of the virus or tested positive should wait at least 8 weeks after symptoms first appeared before trying to conceive.
It is recommended to talk to your healthcare provider before trying to conceive.

How To Treat The Zika Virus and Zika Fever

The Zika virus is mostly a mild fever and has no current treatment besides drinking plenty of fluids, getting a lot of rest and keeping the patient comfortable with fever and pain reducers. Always seek medical help if your symptoms worsen.

Where Does The Zika Virus Come From?

The Zika virus originated in Uganda, Africa and appears to be most associated with the Yellow Fever carrying mosquitos. Kenya, Ethiopia, Egypt, and several other west Africa countries report cases of Zika Fever.
The virus is now found in Brazil and the northern countries of South America, all Central American countries, India, Indonesia, and a number of other Southeastern Asia countries.

Are There Locations In The USA That Have a High Risk of Zika?

Please follow this link to the CDC website to stay current on locations that have a risk of Zika.

Want to Know More?

• Treating Mosquito Bites Naturally During Pregnancy
• How to Treat West Nile Virus During Pregnancy

Compiled using information from the following sources:

1. Center for Disease Control

https://www.cdc.gov/zika/symptoms/

2. World Health Organization

https://www.who.int/mediacentre/factsheets/zika/en/

3. New York Times

https://www.nytimes.com/interactive/2016/health/what-is-zika-virus.html

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