Planning to become pregnant? Optimize your health first

He wants a boy, she wants a girl, but the outcome all expectant parents can agree on is a healthy baby.

In the United States a health baby is the norm, but between 1 and 2 percent of babies are born with some sort of birth defect, described as a visible, internal or chemical abnormality.

MUSC Woman's Health physician Dr. Ryan Cuff, an assistant professor in MUSC's Department of Obstetrics and Gynecology in the Division of Maternal and Fetal Medicine, says a birth defect can be structural or functional. It can be genetic, the result of an infectious illness or environmental factors, or sporadic, meaning it is random and of unknown cause.

"A birth defect might not have an identifiable cause and might be the culmination of several influences, many of which might not be known," Cuff says. "Sometimes a mom can do everything correctly and still have a baby with a birth defect."

The most common birth defects are spinal bifida, heart abnormalities, cleft palate and Down Syndrome. Other defects include malformation of the abdominal wall, in which the abdominal wall does not close properly, as well as an abnormality of the kidneys, genitourinary tract, arms, fingers and toes.

Birth defects develop in the first and early part of the second trimester, when a fetus is developing. The second and third trimesters are a period of growth.

To minimize risk for certain defects, Cuff advises women to be in optimal health and adopt healthy habits if they're contemplating pregnancy.

"Preparing for pregnancy is particularly important because the fetus is developing in those first weeks after conception, often before a woman knows she's pregnant," he says. "Optimal health means being at a healthy weight, following a nutritious diet and taking a prenatal vitamin daily throughout their reproductive years."

Before becoming pregnant, Cuff says, a woman should also discuss her medical history with her provider, including medications she is taking.

"That doesn't mean a patient can't be on medications. But it's very important that she and her provider weigh the risks and benefits and, if necessary, switch to other medications as needed," Cuff says.

He also reminds women to avoid harmful substances, such as drugs, alcohol, tobacco and marijuana.

"Don't wait to find out you're pregnant before you quit smoking," he says. "If you can stop before pregnancy, outcomes are better. As for marijuana, just because it's legal in some jurisdictions doesn't mean it's safe. Even though it's not known to be associated with birth defects, there is no known safe amount for pregnant women."

If a woman is taking cannabis for medical reasons, she should discuss its use with her health-care provider, he says.

Patients with type 1 or type 2 diabetes are encouraged to work to achieve good control of their diabetes prior to pregnancy and to be on a medication regimen that is considered safe for use during pregnancy. Uncontrolled diabetes is associated with a number of risks and poor outcomes in pregnancy and may contribute to an increased risk of heart defects.

Advanced maternal age - greater than 35 - increases the risk of Down Syndrome, and the incidence rises incrementally with age. Patients should discuss their individual age-related risk, as well as their family history, with their obstetrician.

Infections such as chickenpox and COVID-19 can also adversely affect maternal and fetal health.

"I always ask my patients if they've had chickenpox or gotten the varicella vaccine in their life," Cuff says. "An infection caused by first-time varicella or chickenpox can be extraordinarily bad, and we can't vaccinate during pregnancy because the vaccine is a live virus."

Cuff urges all women considering pregnancy to get flu and COVID-19 vaccines. Pregnant women will also be recommended to receive TDAP while pregnant.

Once a pregnancy is confirmed, a patient undergoes a standard battery of tests measuring blood count and testing for HIV, hepatitis and sexually transmitted disease. Cuff also reviews family history, including any history of genetic disorders and discusses screening options for genetic disease and birth defects.

"There are certain heritable things that can be either prevented altogether or screened for prior to or during pregnancy," he says. "Knowing each patient's individual history or risk is beneficial."

For all his patients, he recommends sonograms between 11 and 13 weeks and 18 and 20 weeks to screen for birth defects or any major abnormalities.

If a birth defect is suspected, the patient may be referred to MUSC Women's Health's maternal fetal medicine team and/or a geneticist for additional counseling.

The MUSC Advanced Fetal Care Center has a multidisciplinary team of specialists recognized nationally for providing a comprehensive diagnosis, coordinated care and maternal-fetal treatment for pregnant women with a suspected or confirmed fetal congenital anomaly.

Not all birth defects are severe, but a discussion is necessary to provide guidance for parents on what it means and to create a plan, Cuff says.

"The responsibility of the care team is to describe and diagram the birth defect and discuss potential implications for the pregnancy, the expected outcome, and the post-delivery management of the defect," he says.