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Related Experiment Video

Updated: Feb 3, 2026

Implantation of Total Artificial Heart in Congenital Heart Disease

Implantation of Total Artificial Heart in Congenital Heart Disease

Published on: July 18, 2014

Theoretical Performance of Comprehensive Non-Invasive Prenatal Screening in Congenital Heart Defects.

Emily Yang¹, Megan E Bunnell², Sophie Adams²

¹Harvard Medical School, Boston, Massachusetts, USA.

Prenatal Diagnosis

|February 1, 2026

Summary

Comprehensive prenatal screening (CPS) can theoretically identify 76% of genetic causes for fetal congenital heart defects (CHD). This screening offers a valuable option for individuals declining diagnostic testing, though clinical performance may vary.

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Area of Science:

Prenatal diagnostics
Medical genetics
Fetal medicine

Background:

Congenital heart defects (CHD) often have underlying genetic causes.
Comprehensive prenatal screening (CPS) offers non-invasive genetic testing options.
Evaluating CPS performance for CHD is crucial for informed clinical decisions.

Purpose of the Study:

To calculate the theoretical performance of CPS for identifying genetic causes of fetal CHD.
To compare CPS performance across different CHD subtypes and associated anomalies.

Main Methods:

Retrospective analysis of fetal cardiac anomaly cases with known genetic diagnoses (Jan 2020 - Oct 2024).
Calculation of theoretical CPS performance based on identifiable genetic diagnoses.
Comparison of performance across CHD categories and extracardiac anomalies.

Main Results:

153 fetuses with CHD and known genetic diagnoses were analyzed.
CPS theoretically identified 76% of genetic causes, including aneuploidies, single gene disorders, CNVs, and 22q11.2 deletion syndrome.
Performance did not significantly differ by CHD subtype or presence of extracardiac anomalies.

Conclusions:

CPS can theoretically detect a significant proportion of genetic causes for fetal CHD.
CPS provides a potential screening option for individuals declining invasive diagnostic testing.
Actual clinical performance of CPS may be lower than theoretical calculations.