Should I be concerned if my baby’s ultrasound shows a heart defect?

By Cheryl Reid-Simons

In honor of Congenital Heart Defect Awareness Week and American Heart Month, we talked to a MultiCare Maternal-Fetal Medicine physician and a pediatric cardiologist from NorthWest Congenital Heart Care, one of the local pediatric cardiology practices MultiCare partners with, about common heart defects in babies and why early detection is important.

For most expectant mothers, the big news from an ultrasound has to do with their baby’s gender. But one of the biggest focuses for the medical team is the baby’s heart.

Nearly 1 percent of all babies in the United States are born with some form of heart defect, says Tammie Chao, MD, with MultiCare Regional Maternal-Fetal Medicine.

About one-third of those infants will require heart surgery within their first weeks or months. And with ultrasound, most of those defects are caught well before birth, giving parents and doctors valuable time to prepare a plan.

If a heart defect is suspected, or a pregnant woman is at risk of having a baby with a heart defect, a pediatric or fetal cardiologist will perform a fetal echocardiogram. With this detailed information they can determine the severity of a problem if detected, educate expectant parents and discuss treatment options.

Sometimes the delivery plan may need to be altered so that if urgent care is needed after birth, all providers will be aware and ready, says Jennie Allen, MD, with NorthWest Congenital Heart Care (NWCHC).

Should I be concerned?

The first thing patients should know is just because your doctor picks something up on an ultrasound doesn’t mean your baby is sick.

“Some ultrasound findings, like an echogenic intracardiac focus (EIF) are frequently detected on ultrasound,” Dr. Chao says. “An EIF is a bright spot in one of the chambers of the heart.”

While it warrants some investigation, it could be nothing.

“We see an EIF in a lot of typical, healthy babies, especially in certain ethnic groups,” Dr. Chao says. “Just because we see that does not mean there is a heart defect.”

The discovery of a major heart defect in utero is not necessarily life-threatening, she says.

“The most common heart defects that we see, such as ventricular septal defects, are not lethal issues,” Dr. Chao says. “But about 25 percent of major heart defects are critical.”

Dr. Chao’s practice sees referrals for women from obstetrical practices across nine counties in western Washington. Some of these patients are referred to Maternal-Fetal Medicine for routine screening ultrasounds, and some are referred because an abnormality was found on an ultrasound performed locally with their obstetrical provider.

“Every woman gets a detailed ultrasound at 20 weeks,” she says. “There’s a big checklist on the anatomic survey, but a lot of our attention is directed to the heart because it’s a complicated structure.”

Ultrasound technicians are diligent about getting clear pictures of the heart.

“If the images are unclear or incomplete on the first attempt, we bring the patient back in a couple weeks to try again,” Dr. Chao says. “We are able to detect the majority of major heart defects with ultrasound.”

Common heart abnormalities, explained

The most common congenital heart abnormality is a ventricular septal defect (VSD), says Dr. Chao. VSD is a hole between the lower two chambers of the heart.

When a VSD is detected, doctors look closely at other areas of the heart as well as other organs to get a clue about whether the VSD is part of a larger syndrome. The good news is that many cases of VSD will close on their own. All that’s needed is monitoring to make sure the defect is closing. Other cases require surgical intervention.

A pediatric/fetal cardiologist can predict a lot about how clinically important a VSD may be to a baby after birth while the baby is still in utero and will continue to see a baby after birth with their families if needed, says Dr. Allen.

“We have taken care of pregnancies affected by variety of fetal cardiac defects, ranging from ventricular and atrial septal defects (a hole between the heart’s upper chambers) to more serious conditions like Tetralogy of Fallot, hypoplastic left heart syndrome, transposition of the great arteries or truncus arteriosus,” Dr. Chao says.

A woman carrying a baby with a heart defect detected on ultrasound is referred to a pediatric cardiologist. Sometimes the only thing required is a single echocardiogram. Other times the cardiologist will want to see serial echocardiograms followed by similar studies after the birth.

Together with expectant families and maternal-fetal medicine specialists, the pediatric cardiologist will make a plan of care for children with detected heart diseases prenatally, and will make clear the risks and benefits of intervention if needed to help families make informed decisions while caring for their child with heart disease.

Often, a pediatric cardiologist will work with families from pregnancy until the child is an adult, if ongoing care is needed, says Dr. Allen with NWCHC.

What causes congenital heart defects?

The vast majority of congenital heart defects are spontaneous developments, meaning there is no discernible cause and the condition isn’t hereditary. However, sometimes poorly controlled maternal diabetes can cause fetal heart defects. This may be seen in mothers who have undiagnosed diabetes before becoming pregnant.

Sometimes a heart defect is just one facet of a more complex genetic syndrome. This is why women whose babies have a heart defect will be offered genetic counseling in the MFM clinic and may consider further prenatal testing, such as an amniocentesis. The results can offer reassurance to worried parents or detect a genetic syndrome that may help parents prepare for life after the baby is born.

“The outcome for a child with a heart defect is typically better if there’s no associated genetic syndrome and the chromosomes are normal,” Dr. Chao says.

Some patients believe that the only benefit of an amniocentesis is to allow them to terminate the pregnancy if significant abnormalities are found, but Dr. Chao says that’s not necessarily the case.

“It may offer patients peace of mind if no genetic syndrome or chromosome problem is identified,” she says. “On the other hand, if a genetic diagnosis is made, it may help patients line up resources, such as subspecialist consultations or support groups.”

One of the most common chromosome problems associated with congenital heart defects is Down syndrome.

Early detection does help

In rare circumstances, some severe congenital heart diseases are not survivable.

“Our practice has grief counseling services for families whose baby may not survive due to serious heart defects,” Dr. Chao says.

A complex care conference, with participation from Maternal-Fetal Medicine, grief counseling, case management, neonatology, pediatric cardiology, the palliative care team and the family, is organized during the pregnancy so that the patient’s birth plan can be established in advance of delivery.

The birth plan includes things such as establishing the level of medical intervention desired, collecting a lock of the baby’s hair, holding the baby as long as possible, cutting the cord and other emotional support.

“These can be very difficult cases for everyone involved,” says Dr. Chao. “Having a plan in place increases communication among the team and lessens stress for the family.”

Some forms of congenital heart disease are severe, but with early and planned intervention, newborns can live long and normal lives. While in-utero surgery for heart defects remains extremely rare, early detection can still help improve outcomes for babies with some severe defects, according to Dr. Chao.

Once a fetal heart defect is diagnosed, the birth plan may change to give the baby the best chance. That could mean a scheduled delivery or close monitoring of the pregnancy.

For major defects, the birth needs to be scheduled in a facility equipped to care for the baby’s needs, including possible surgical or medical intervention. A pediatric cardiologist will help facilitate a birth plan and organize a plan for intervention if necessary, says Dr. Allen.

Though no one expects to learn that their pregnancy is complicated by congenital heart disease, facing the news is actually a very common experience for expectant parents. Hopefully, with the help of subspecialists, families facing this news will be able to learn about their baby’s heart disease and feel well supported along the journey.

Learn more about MultiCare Maternal-Fetal Medicine

Learn more about NorthWest Congenital Heart Care