discoveries magazine

We Have the Technology

Physicians don’t need new machines to predict newborn heart defects — they just need to better use existing resources.

Pregnant woman

Illustration: James Steinberg            

Congenital heart disease is the most common birth defect, affecting 1 in every 120 newborns. If a cardiac anomaly is not found before birth, a newborn can become sick or turn blue before receiving treatment. Unfortunately, only about half of such abnormalities are discovered prenatally, and a heart condition too often comes as a surprise to the obstetrician and parents.

“Most of these moms are low-risk cases,” explains Ruchira Garg, MD, director of Congenital Noninvasive Cardiology at the Guerin Family Congenital Heart Program in the Cedars-Sinai Heart Institute.

“These women do not have any family history of congenital heart disease, no exposure to agents known to cause malformation of an embryo, and no other known factors that increase their risk.”

A routine ultrasound picks up most heart defects, but problems can be missed.

“The ‘anatomic’ ultrasound has to evaluate the fetus from head to toes,” Garg notes. “The technician often can dedicate only one to three minutes to the heart.”

When the obstetrician suspects a potential anomaly and recommends a more detailed fetal heart check, nearly half will be diagnosed with congenital heart disease. Garg is on a mission to improve prenatal detection so such babies are born into environments primed to help them.

“I educate our community — obstetricians and perinatologists — on identifying patients with even nominally increased risk, such as a diabetic mother,” Garg says.

In such cases, a fetal echocardiogram — an ultrasound focused on the heart — is in order.

“If I perform a fetal echo, in almost all cases I can say, ‘After our scan today, I will know if your baby has a heart abnormality that will require special care after birth,’” Garg says.

Once a critical anomaly is detected, Garg coordinates care and delivery with the mother’s obstetric team so she can plan to give birth in a facility equipped to help her infant. In some cases, defects can be treated in utero.

Garg emphasizes that “Obstetricians and perinatologists are on the front lines in detecting every kind of birth defect, which is a huge responsibility.” Her goal is to educate these clinicians with the hope of doubling Cedars-Sinai’s prenatal detection of heart defects.

“Congenital heart defects don’t need to be a surprise in the nursery,” she says.