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December 12, 2021
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Extracardiac anomalies prevalent across congenital heart disease types

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Extracardiac anomalies, including structural brain anomalies, were frequently detected on fetal MRI among fetuses with various forms of congenital heart disease, researchers reported.

The extracardiac anomalies and structural brain anomalies were detected as early as midgestation, Gregor O. Dovjak, MD, PhD, from the department of biomedical imaging and image-guided therapy, division of neuroradiology and musculoskeletal radiology, Medical University of Vienna, and colleagues wrote.

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The researchers analyzed 429 consecutive fetuses with congenital heart disease who underwent MRI between 17 and 38 weeks of gestation to determine rates of extracardiac anomalies and structural brain anomalies for each type of congenital heart disease.

Among the cohort, 56.6% had extracardiac anomalies and 25.4% had structural brain anomalies on MRI, Dovjak and colleagues wrote, adding that of the 191 fetuses that had normal genetic testing, 54.5% had extracardiac anomalies and 19.4% had structural brain anomalies on MRI.

Other common extracardiac anomalies in the cohort included extrafetal anomalies (21.2%) and urogenital anomalies (10.7%), according to the researchers.

The most common structural brain anomalies were hindbrain-midbrain anomalies (11%), dorsal prosencephalon development (10%) and abnormal cerebrospinal fluid spaces (10.5%), the researchers wrote.

Detection rates of extracardiac anomalies did not significantly differ before 25 weeks (45.7%) or 25 weeks or later (54.3%).

Rates of extracardiac anomalies were high in all 15 categories of congenital heart disease studied, Dovjak and colleagues wrote.

“Because overall outcome in congenital heart disease strongly depends on the presence and severity of additional anomalies, such as structural brain anomalies and renal anomalies, accurate prenatal diagnosis using fetal imaging modalities is essential in all types of congenital heart disease,” Dovjak and colleagues wrote.

Lisa K. Hornberger

In a related editorial, Lisa K. Hornberger, MD, professor of pediatrics and adjunct professor of obstetrics and gynecology at Stollery Children’s Hospital, University of Alberta, Canada, and Angela McBrien, MB, BCH, MD, assistant professor of pediatrics at the University of Alberta, wrote: “The field of fetal cardiology is ever expanding and providing unique insight into the evolution of congenital heart disease and associated noncardiac pathology. Further exploration of fetal congenital heart disease and extracardiac anomalies in this era of advanced genetic testing will no doubt elucidate genetic underpinnings for many with multiple congenital anomalies or associations. As well, longitudinal investigations will enhance our understanding of the relationship between congenital heart disease and extracardiac anomalies, including structural brain anomalies, and their impact on long-term clinical, including neurodevelopmental, outcomes. These data are important to understand the role of fetal MRI in the diagnostic evaluation of fetal congenital heart disease and will ultimately further fine-tune our counseling and care of affected pregnancies.”

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