askthedoctor Birth Defects B


Early Action Helps Many birth defects can’t be prevented, but early diagnosis and treatment often can prevent the physical and mental ex- pressions of the condition and improve the overall long-term prognosis — sometimes dramatically.


48 MILITARY OFFICER MAY 2016


One in 33 babies is born with a birth defect. The causes of birth defects vary, as does their impact, which ranges from minor to life-threatening. By Rear Adm. Joyce Johnson, D.O.


Birth defects can occur before birth or at birth. Many miscarriages are caused by in-utero anomalies, and 20 percent of infant deaths are caused by a birth defect. Some birth defects, such as cleft lip or pal- ate or various heart defects, are visible or aff ect body structures. Others are metabolic and aff ect body chemistry — phenylketon- uria, for example, is caused by a missing enzyme and prevents normal body waste products from breaking down, with seri- ous neurologic consequences. Some body systems — the extremities, brain and spinal cord, heart, and gastrointestinal tract — are more prone to birth defects than others. Birth defects such as gastroschisis (in which the intestines and other abdominal organs are outside the abdominal wall) can be identifi ed through prenatal testing. Others, such as an 11th toe or metabolic dis- orders, aren’t recognizable until birth. Still others, such as some movement disorders associated with cerebral palsy, might not be evident until a child is a year or older. Many metabolic birth defects are genetic in origin and carried from parent to child. Others, such as Down syndrome or trisomy 21, are due to sporadic genetic mutations, in this case a third chromosome 21. Some- times toxins cause birth defects — fetal al- cohol syndrome, for example, is related to a mother’s drinking during pregnancy. Medi- cations also can aff ect fetal development. Some defects are linked to infectious


disease, such as microcephaly linked to Zika virus infection. Rubella (German


measles) and chickenpox caused many birth defects in the past, but widespread use of vaccines has prevented most cases of these infections in pregnant women, as well as the related birth defects. The sooner a birth defect is identifi ed,


the greater the potential for eff ective treat- ment. Every state has a newborn screening program for metabolic diseases so treat- ment can begin as early as possible. A few drops of blood are collected from a baby’s heel and analyzed for 35 or more problems. To screen for heart defects, an infant’s


blood oxygen level is tested at birth and again 24 hours later. Most newborns also receive a hearing test, because intervention before the age of 6 months improves long- term language development. Health practices before pregnancy are


key to help prevent birth defects. Keep vaccinations current, treat any sexu- ally transmitted diseases, take folic acid supplements, and eliminate unnecessary medications (not only prescription but also OTC, “herbal,” and illegal drugs). Pregnant women should avoid tobacco products, including secondhand smoke, and abstain from alcohol. A healthy diet, an appropriate activity level for the trimester, rest, manag- ing any medical conditions, and prenatal care all contribute to a healthy baby.


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— Rear Adm. Joyce Johnson, USPHS (Ret), D.O., M.A., is a health care consultant in Chevy Chase, Md. Find more health and wellness resources at www.moaa.org/wellness. For sub- mission information, see page 6.


PHOTO: STEVE BARRETT


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