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Today's Family Magazine

Preventing birth defects

Apr 21, 2017 09:06AM ● By Today's Family
By Heidi Smith Luedtke, Ph.D.

Each year between 2 and 3 percent of babies are born with some kind of birth defect.  Some problems – like lazy eye or cleft palate – are mild and treatable.  Others – like the lung disease cystic fibrosis or heart malformations – can be severe or even life-threatening.  Whether you’re planning to get pregnant or already expecting, you can prevent birth defects with smart screening and healthy habits. 

Early intervention is important
Doctors agree: Prevention efforts should start before you get pregnant.  Most birth defects have underlying genetic causes, and predictive medicine specialists like Dr. Brandon Colby, M.D., author of “Outsmart Your Genes,” are working hard to undo the perception that what’s in your genes is set in stone.

“Genetic information is more actionable now than ever,” Colby says.  A full genetic analysis of both the mother- and father-to-be can identify any increased risks and allow your doctor to treat some problems before they develop.

It’s natural for couples who are concerned about their family histories to feel apprehensive about genetic testing.  The good news is many couples find out their risks are lower than they expected, says Colby.  If one partner carries the gene for a specific condition but the other does not, baby’s risk may drop substantially – in fact, it may fall to zero.

Even moms who don’t want to dig into their DNA should make a pre-conception appointment with their primary care physician or an obstetrician, says Dr. Pedro Arrabal, M.D., perinatologist and director of the Institute for Maternal-Fetal Medicine at Sinai Hospital in Baltimore, MD. This is especially important if you have significant health problems, such as high blood pressure, diabetes, obesity or depression.

Drugs used to treat hypertension and depression increase the chance of congenital heart defects and other abnormalities.  Your physician may be able to change your medication to something safer. “Patients with some conditions, such as seizure disorders, need to stay on prescribed medications even though they may be associated with increased risk of birth defects,” says Arrabal.  Doctors weigh the risks and benefits of any medication when they decide whether it should be taken during pregnancy.

Poorly controlled diabetes can significantly increase the risk of heart defects and spina bifida, a condition in which the bones of the spine don’t develop correctly.  “Your doctor may want to put you on insulin therapy or increase the frequency of blood sugar monitoring to make sure it stays under control,” says Arrabal.

At your pre-conception checkup, ask your doctor to prescribe prenatal vitamins.  “The fetal neural tube, which becomes the baby’s brain and spinal cord, develops in the first few weeks of pregnancy,” says Colby.  By the time you find out you’re pregnant, you may have missed the chance to protect against neural tube defects.  And it’s easy to do.  Studies show taking 400 micrograms of folic acid daily, beginning one month before conception, decreases the risk of neural tube defects by 70%.  Folic acid (also called folate) is a B-vitamin found in kale and spinach, orange juice, and enriched grains.  Docs recommend supplements because most women don’t get enough from their diet.
Continued prevention during pregnancy
Screening for potential birth defects is routine. Your doctor will recommend tests based on your personal background, his professional opinion, and state guidelines and requirements.  Some tests, such as the blood test known as a quad-screen, are noninvasive, says Colby.  This means they don’t put the fetus at any increased risk.  Others, like chorionic villus sampling (CVS) and amniocentesis, increase the risk of miscarriage.  Most doctors do blood tests first and follow up with invasive tests only if the results cause concerns.  Early detection of abnormalities allows your doctor to minimize complications during pregnancy or at delivery. 

Throughout pregnancy you can prevent birth defects by limiting baby’s exposure to toxins in your diet, your home and your workplace.  According to the Centers for Disease Control (CDC), approximately one in eight pregnant women in the United States says she has used alcohol in the past 30 days.  One in 50 pregnant women engaged in binge drinking (having five or more drinks at one time).  Alcohol use during pregnancy can cause fetal alcohol spectrum disorders (FASDs), including defects of the heart, brain or other organs, as well as learning and behavioral disorders.  FASDs are 100% preventable.  If you’re pregnant or might be pregnant, don’t drink.

It’s a good idea to stop smoking, too.  Use of tobacco during pregnancy increases the risk of cleft lip or cleft palate, defects caused by malformation of the roof of the mouth.  Mothers who smoke have an increased risk of miscarriage and of premature birth and low birth weight babies.  Smoking during and after pregnancy also increases the risk of sudden infant death syndrome (SIDS).  It’s best to quit smoking or reduce your use of tobacco as much as possible.

Beware of environmental toxins as well.  If you’re remodeling an old home, you may come in contact with lead-based paint.  Hire a professional to handle it.  Lead exposure during pregnancy can cause developmental delays.  Health care workers and women in manufacturing, dry cleaning, printing and agricultural jobs may be exposed to chemical hazards, according to CDC reports.  Steer clear of cancer treatment drugs and X-rays if you work in a doctor’s office or hospital, or if you accompany a family member who needs treatment.  Talk with your doctor about work-related risks and find out if a change in your duties is necessary.  Before, during and after pregnancy, your baby’s health should be job number one.

Pump up your prevention efforts with expert information and social support

Index of genetic abnormalities

National Center on Birth Defects and Developmental Disabilities

National Birth Defects Prevention Network
(state-specific profiles)

Prenatal testing information

Folic acid

Workplace reproductive hazards

Links to chat rooms and support groups