Birth Defects

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• QHow often do neural tube defects occur?

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  A Dr. Grace S. Hyun, MD , Surgery, answered on behalf of The Mount Sinai Health System

  Neural tube defects occur when the bones of the spine do not correctly form, leaving the spinal cord and its nerves and coverings to protrude out through the skin (or lie just beneath it). The use of folate vitamins during pregnancy has decreased the incidence of neural tube defects. However many children still suffer from myelodysplasia (which includes myelomeningocele, occult spina bifida, etc.). Since the bladder and the urinary sphincters function under neurologic control from the spinal cord, damage to the spinal cord can result in lower urinary tract dysfunction which, if untreated, can lead to renal damage.

  Frequent infections, incontinence, and urinary frequency are common symptoms of neural tube defects.

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• QWhat are fetal alcohol spectrum disorders (FASD)?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. These effects can include physical problems and problems with behavior and learning. Often, a person with an FASD has a mix of these problems.

  FASDs are caused by a woman drinking alcohol during pregnancy. There is no known amount of alcohol that is safe to drink while pregnant. There is also no safe time to drink during pregnancy and no safe kind of alcohol to drink while pregnant.

  To prevent FASDs, a woman should not drink alcohol while she is pregnant, or even when she might get pregnant. This is because a woman could get pregnant and not know for several weeks or more. In the United States, half of pregnancies are unplanned.

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• QWhat are neural tube defects?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  Neural tube defects are serious birth defects of the brain and spine. They are a major cause of death and lifelong disability worldwide. The two most common neural tube defects are spina bifida (defect of the spine) and anencephaly (defect of the brain). They happen very early in pregnancy when the neural tube, which becomes the brain and the spine, does not close properly. Spina bifida can cause lifelong disabilities that range from mild to severe. Almost all babies born with anencephaly will die shortly after birth. In the United States, 3,000 pregnancies are affected by neural tube defects every year.

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• QCan neural tube defects be prevented?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  The Centers for Disease Control and Prevention (CDC) urges women to take 400 micrograms (mcg) of folic acid every day, starting at least one month before getting pregnant, to help prevent neural tube defects.

  Neural tube defects happen in the first few weeks of pregnancy, often before you find out you're pregnant. By the time you realize you’re pregnant, it might be too late to prevent those birth defects. Also, half of all pregnancies in the United States are unplanned.

  These are two reasons why it is important for all women who can get pregnant to be sure to get enough folic acid every day, even if they aren’t planning a pregnancy any time soon.

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• QWhat is Anencephaly?

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  A RHS Admin , Administration, answered on behalf of Riverside Center for Neurosciences

  Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the third and fourth week of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions, such as breathing and responses to sound or touch may occur.

  The cause of anencephaly is unknown. Although a mother's diet and vitamin intake may play a role, some scientists believe that various other factors may also be involved.

  Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age significantly reduces the incidence of neural tube defects. Therefore, it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily.

  This answer is based on source information from National Institute of Neurological Disorders and Stroke.

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• QWhat is fetal alcohol syndrome?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  Fetal alcohol syndrome (FAS) represents the severe end of the fetal alcohol spectrum disorders (FASD) spectrum. Fetal death is the most extreme outcome from drinking alcohol during pregnancy. People with FAS might have abnormal facial features, growth problems and central nervous system (CNS) problems. People with FAS can have problems with learning, memory, attention span, communication, vision or hearing. They might have a mix of these problems. People with FAS often have a hard time in school and trouble getting along with others.

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• QWhat is prenatal diagnosis?

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  A Diana Meeks , Family Medicine, answered on behalf of Sigma Nursing

  Prenatal diagnosis is a term that includes a variety of techniques to assess the health and well-being of the unborn fetus. Frequently used prenatal diagnostic techniques are:

  • Ultrasound
  • Amniocentesis
  • Chorionic villus sampling

  The types of conditions that can be diagnosed with prenatal diagnosis include neural tube disorders and chromosome abnormalities, such as Down syndrome, Tay Sachs disease and fragile x syndrome.

  The findings of prenatal diagnosis are useful in allowing parents to make informed decisions and in managing the remaining weeks of the pregnancy including planning for possible complications with the birth or with the neonate.

• QWhat causes fetal alcohol syndrome?

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  A Diana Meeks , Family Medicine, answered on behalf of Sigma Nursing

  Fetal Alcohol Syndrome (FAS) is caused by a woman drinking alcohol during pregnancy. When a pregnant woman drinks alcohol, it passes across the placenta and enters the fetus’ system. Alcohol is a teratogen, a substance known to be toxic to human development. Depending on the amount, timing and pattern of use, when the alcohol reaches the growing baby’s blood supply, it can interfere with healthy development. Alcohol use appears to be the most harmful during the first 3 months of pregnancy, when body systems are developing. However, drinking alcohol any time during pregnancy can be harmful. There is no safe time to drink during pregnancy and no safe kind of alcohol to drink while pregnant. To prevent FAS, a woman should not drink alcohol while she is pregnant, or even when she might get pregnant.

• QHow is fetal alcohol syndrome diagnosed?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  Diagnosing fetal alcohol syndrome (FAS) can be hard because there is no medical test, like a blood test, for it. And other disorders, such as ADHD (attention-deficit/hyperactivity disorder) and Williams syndrome, have some symptoms like FAS. To diagnose FAS, doctors look for:

  • Abnormal facial features (e.g., smooth ridge between nose and upper lip)
  • Lower-than-average height, weight or both
  • Central nervous system problems (e.g., small head size, problems with attention and hyperactivity, poor coordination)
  • Prenatal alcohol exposure; although confirmation is not required to make a diagnosis

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• QWhat is the pigeon deformity?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  Pigeon deformity is a deformity of the chest characterized by a protrusion of the sternum and ribs. It is also known as pigeon chest. The scientific term for this is pectus carinatum. Pectus carinatum is associated with some connective tissue disorders and can be seen in certain medical syndromes.

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