Most birth defects have no known cause. What you need to know about diagnosis and treatment.

It’s every parent’s worst nightmare; having a child diagnosed with a debilitating condition that could impact them for the rest of their lives. And it’s more common than most people may know.

One out of every 33 babies born in the world arrives with a major birth defect, a frightening diagnosis that can lead to lifelong challenges and costly complications for the child and the family. For some, the conditions can be deadly, with birth defects identified as the leading cause of infant mortality in the United States.

While much progress has been made to identify and treat birth defects – sometimes offering lifesaving interventions while the baby is still in the womb — these conditions remain a concern for many families across the world. In fact, some researchers now believe that the overall rates of birth defects in children may actually rise in the coming years due to rising rates of obesity and maternal diabetes, as well as the growing threat from the Zika virus, a mosquito-borne pathogen tied to miscarriages, birth defects and a rare form of paralysis.

Yet little is known about why birth defects occur. A recent study found that a vast majority of these anomalies, 80 percent, have no known identifiable cause.

“Many mothers often stress and unfairly blame themselves for causing a birth defect in their baby, but in reality, many of these conditions have no known underlying cause,” said Dr. Roopali Donepudi, a maternal-fetal medicine specialist with McGovern Medical School at UTHealth who sees patients at Memorial Hermann facilities across Houston.

Of the roughly 20 percent in which researchers were able to pinpoint a definite cause, most were associated with chromosomal or genetic conditions.

“Sometimes, these are just random events that happen in a pregnancy,” Dr. Donepudi said. “I always offer my patients the opportunity to receive genetic testing so that they can know and understand their risks now and for future pregnancies. Many patients find that information reassuring.”

Even though most birth defects don’t have an underlying cause, doctors still urge mothers to do everything possible to help prepare their bodies for conception, including maintaining a healthy weight, eating a nutrient-packed diet and getting a recommended dose of folic acid.

Studies have shown that women who get 400 micrograms (or 0.4 milligrams) of folic acid every day prior to conception and during early pregnancy can slash their baby’s risk of developing a neural tube defect by as much as 70 percent.

“We recommend that all women who are not on birth control should be taking prenatal vitamins containing folic acid,” Dr. Donepudi said. “Since pregnancies can be unplanned, it’s important for women to remain in their best shape, even before they conceive.”

Advances in medicine and more sophisticated imaging technology have allowed physicians to diagnose more birth defects in utero, giving the medical team ample time to prepare for a child’s delivery and in some cases, even offer interventions before the child is born. Some babies diagnosed with spina bifida and congenital diaphragmatic hernia, for example, can qualify for a surgery to repair the defect while they are still in the womb, which could lessen their chances for complications later on.

“It’s really incredible the kinds of options we can now offer,” Dr. Donepudi said. “A lot of people hear the words ‘birth defect’ and they automatically assume the worst, but with the strides we’ve made in health care, we are now able to provide treatment and intervention for some of these conditions, giving families more hope.”

To learn more about risks during pregnancy or to speak to a specialist about managing a complicated pregnancy, please see the directory of specially trained maternal-fetal medicine specialists.  To learn more about fetal diagnosis and intervention before, during and after birth, visit The Fetal Center.

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