Common Anomalies Understanding the risks of birth defects

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Approximately 150,000 babies (one in 33) are born with a birth defect in the United States each year. Birth defects are a leading cause of infant mortality, and no parent is immune. The cause of some birth defects remains unknown despite research. While not all birth defects are preventable, some can be avoided when moms enter pregnancy in optimal health.

For Mary Donofrio, medical director of prenatal cardiology at Children’s National Hospital in Washington, D.C.; Julie S. Moldenhauer, director of obstetrical services in the Center for Fetal Diagnosis and Treatment at Children’s Hospital of Philadelphia (CHOP); and Donna Neale, assistant professor of gynecology and obstetrics at Johns Hopkins School of Medicine, every workday affords a step toward healthier babies.

“There are thousands of different birth defects—some so rare that many parents and some physicians haven’t heard of them,” says Moldenhauer. “Birth defects can have serious, adverse effects on health, development or functional ability and account for more than one in every five infant deaths.”

She states that babies with birth defects have a greater chance of illness and long-term disability than those born without birth defects.

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“Many defects can be diagnosed and, in some cases, treated before birth,” says Moldenhauer. “Each week at CHOP, highly sophisticated fetal surgery teams repair spina bifida and other birth defects in the womb, place fetal shunts to treat life-threatening congenital conditions or perform minimally invasive procedures in the mother’s uterus to treat complications in fetal twins.”

Some of the most commonly treated birth defects Moldenhauer sees at CHOP’s Center for Fetal Diagnosis and Treatment include the following:

• Congenital cystic adenomatoid malformation (occurs in approximately one in 10,000 pregnancies).
• Congenital diaphragmatic hernia (occurs in about one in 2,500 live births).
• Gastroschisis (occurs in approximate one in 5,000 live births).
• Lower urinary tract obstructions (occurs in about one in 5,000 to 7,000 births, more likely males).
• Omphalocele (occurs in approximately one in 5,000 to 10,000 births).
• Spina bifida (a most common central nervous system birth defect that affects 1,400 to 1,500 babies born in the United States each year).

The most common birth defect is congenital heart disease.

“Congenital heart disease is the No. 1 birth defect and the No. 1 killer of newborn infants,” notes Donofrio. “One in 100 kids will be born with something wrong with their heart. About 25% of those will have critical congenital heart disease, which means a defect that will result in death unless an intervention (usually surgery) is performed within the first month or two of life. Congenital heart disease may go unrecognized at the time of birth because, on the outside, the newborn can look totally normal. The good news is that after we fix the problem, these wonderful children go to school and grow up. Other than the scar on their chest, you often cannot tell they had open heart surgery as a baby.”

newborn is holding mother's finger for the first time
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Prenatal Care Is Crucial


Neale highly recommends a “preconceptual visit” with an OB-GYN.

“In advance of becoming pregnant, you can talk about how to optimize any underlying medical problems, social issues, mental health issues and anything that should be addressed to prepare for an optimal outcome with a pregnancy,” she says. “Check in with yourself and take note of your health status, what you are doing well and what you can improve.”

Getting enough folic acid is something all women can do.

“It should be standard for all women of reproductive age. Don’t wait until you know you are pregnant,” Neale says. “All multivitamins now have the required 400 micrograms of folic acid in them. Taking folic acid is the No. 1 thing to protect the (baby’s) spine, which lays down early—even before most women know they’re pregnant.”

Folic acid may help with more than the spine.

“Prenatal vitamins with folate mostly are used to minimize the risk of neural tube defects, but there is data suggesting that using prenatal vitamins can minimize risk of other congenital anomalies as well,” adds Donofrio.


Identify Pregnancy Risks


“If a woman is on any medications not recommended during pregnancy, such as Retin-A or tetracycline for acne, Lisinopril for hypertension or lithium for mood disorders, it may be possible to transition to another medicine with a safer profile before conceiving,” says Neale.

Mother Suckling Feeding Her Baby Newborn
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She adds that if a mother needs to remain on a medication that carries a higher risk profile, doctors will assess the risks and benefits to keep the mom healthy but aware of the risks.

Diabetes is another common risk factor for pregnancy.

“If glucose control is not optimal in the first 12 weeks of pregnancy, when organs are forming, development can absolutely be impacted, particularly the cardiovascular system and the spine,” says Neale. “Controlling blood sugars is important. Infection risks, exposure to cat feces, radiation or other toxic environmental hazards should be mitigated during the critical period” when these harmful items can have long-lasting effects on an infant body’s structural integrity.

“Structural abnormalities can sometimes be fixed and sometimes not be fixed,” she adds.

Advanced maternal age is a risk factor for chromosomal conditions like Down syndrome, one of the most common genetic disorders. Heart defects are more common in babies born with Down syndrome.

A woman can’t change her age, but she can recognize if multiple risk factors are in play.

“If you will be 40 when you have the baby, you have diabetes that is not well controlled, and you binge drink, those are three risk factors. You can modify two of those,” Neale says.

Consider your family tree as well. “If you know you have genetic disorders in your family, genetic counseling can examine family histories and identify potential issues,” Neale suggests. “Dive into it and look at the parents’ chromosomes and identify risks. In some cases, the technology of IVF (in-vitro fertilization) can avert genetic diseases in offspring.”

Moldenhauer says that her patients routinely see a genetic counselor as part of a typical evaluation to determine personalized risk factors. “Discuss family history of birth defects with the obstetrics team. Comprehensive prenatal care, including ultrasound, can identify birth defects early in pregnancy.”


Seek Quality Screening


Above all, Donofrio advises all parents-to-be to advocate for themselves and be sure that all prenatal screening provides a complete evaluation of all fetal body components associated with risks of birth defects.

“If risk is above the general population risk for congenital heart disease,” says Donofrio, as an example, “doctors will refer (the woman) for a fetal echocardiogram.”

“Congenital heart disease is not identified in a significant number of pregnancies. In this country, detection rates can range from as low as 25% to their highest at 60% to 70%,” explains Donofrio. “As a physician who takes care of kids with critical congenital heart disease, it is essential to know whether a baby has congenital heart disease before birth. Severe forms of these defects can result in serious illness or even death in the first days of life if not detected in utero. It is our goal and our mission to work with obstetricians and perinatologists in our community to increase detection.”

Birth defects are not uncommon. Doctors are continuously striving to learn more about them. Awareness, optimized maternal health and quality screening for early detection can be key factors in securing healthier futures for babies.

About Courtney McGee

Courtney McGee is a freelance writer, cancer warrior, runner/triathlete and compulsive Candy Crusher. She lives in Towson with her husband, their three children and their high-maintenance rescued hound dog.

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