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Assessing the Clinical Utility of a Fetal Echocardiogram When a Sibling Has Congenital Heart Disease

Assessing the Clinical Utility of a Fetal Echocardiogram When a Sibling Has Congenital Heart Disease 1024 695 JoAnna Pendergrass, DVM
Pregnant woman smiling and holding her belly while awaiting a fetal echocardiogram to check her baby’s heart health during pregnancy.

A fetal echocardiogram when a sibling has congenital heart disease may not be clinically necessary if the fetus has a normal second-trimester level II ultrasound.

A retrospective study led by Kacy Taylor, MSAH, RDCS, FASE, concluded that critical congenital heart disease (CHD) was not missed when a level two ultrasound (LII-US) was normal in a fetus when a sibling had CHD. Study results were published in Cardiology and Therapy.

There is a 2% to 6% risk of recurrence of CHD when a sibling has the condition. “Some studies suggest that there are multiple genetic and environmental factors that may contribute to the increased risk,” says Taylor, senior cardiac sonographer at The Heart Center at Nationwide Children’s Hospital.

“This recurrence risk may be increased if more than one sibling has CHD,” she explains.

Although guidelines recommend that a fetal echocardiogram (F-echo) be performed if a sibling of the fetus has CHD, even if the second-trimester LII-US is normal, research on the clinical utility of this recommendation is limited.

“The findings of this study contribute to the ongoing conversation about refining referral criteria for F-echo, to ensure that resources are used effectively while maintaining the highest standards of patient care,” Taylor says.

The retrospective chart review included 113 cases of an F-echo being performed after a normal LII-US when a sibling had CHD between January 1, 2019, and December 31, 2023. Results of postnatal transthoracic echocardiograms (pTTE, n= 21) were reviewed.

“pTTE captures detailed images of the heart and nearby structures and allows for the assessment of multiple cardiac parameters, such as overall heart function,” Taylor explains.

For this study’s purposes, the researchers defined critical CHD as CHD that required surgical intervention or catheterization at less than one month of age.

LII-US was performed at approximately 21 weeks of gestational age, and F-echo was performed at approximately 25 weeks of gestational age.

The diagnoses of sibling CHD were varied and included valvular defects, coarctation and other defects such as dextrocardia.

Taylor notes that, when LII-US was normal, no diagnoses of critical CHD were missed. “This finding supports recent evidence that the risk of missing critical CHD in this setting is extremely low — less than 0.5%,” she says.

pTTE revealed cardiac abnormalities in six patients. Abnormalities included severe biventricular hypertrophy, Tetralogy of Fallot and trivial apical muscular ventricular septal defect (VSD).

F-echo correctly diagnosed the cases of Tetralogy of Fallot and trivial apical muscular VSD. However, compared to pTTE, F-echo produced false positives in two patients.

“F-echo, as with most diagnostic tools, will always have the risk of false positive and negative results,” the research team writes in their publication.

Taylor adds that F-echo and LII-US may miss minor CHD in the fetus. She suggests an alternative approach, which is to reserve F-echo for cases in which LII-US findings are either abnormal or non-diagnostic, and follow up with pTTE if cardiac concerns remain postnatally.

 

 

Reference

Taylor K, Lovelace C, Van Pelt E, Ogunleye O, Texter K, Cua CL. Utility of screening fetal echocardiograms following normal level II ultrasounds in fetuses with siblings with congenital heart disease. Cardiology and Therapy. 2025 May 31. Online ahead of print.

Image credit: Adobe Stock

About the author

JoAnna Pendergrass

JoAnna Pendergrass, DVM, is a veterinarian and freelance medical writer in Atlanta, GA. She received her veterinary degree from the Virginia-Maryland College of Veterinary Medicine and completed a 2-year postdoctoral research fellowship at Emory University’s Yerkes Primate Research Center before beginning her career as a medical writer.

As a freelance medical writer, Dr. Pendergrass focuses on pet owner education and health journalism. She is a member of the American Medical Writers Association and has served as secretary and president of AMWA’s Southeast chapter.

In her spare time, Dr. Pendergrass enjoys baking, running, and playing the viola in a local community orchestra.

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