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Prenatal detection of cardiovascular malformations by echocardiography: an indication for cytogenetic evaluation
K A Berg1, E B Clark, J A Astemborski
1Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore 21201.
Insights
Prenatal echocardiography detecting heart defects may indicate chromosome issues. This study estimates a threefold increase in fetal aneuploidy risk, suggesting cytogenetic analysis is crucial for affected pregnancies.
Area of Science:
- Medical Diagnostics
- Genetics
- Fetal Medicine
Background:
- Prenatal diagnosis of congenital cardiovascular malformations (CCMs) via echocardiography can be associated with chromosomal abnormalities.
- The precise prevalence of these associations in fetuses is not well-established but is presumed higher than in live births.
Purpose of the Study:
- To estimate the risk of fetal aneuploidy (autosomal trisomy or Turner syndrome) in fetuses with echocardiographically detected heart defects.
- To determine the appropriateness of cytogenetic analysis in such cases.
Main Methods:
- Utilized data from a population-based case-control study of CCMs.
- Adjusted the known frequency of aneuploidy in live-born infants with CCMs by the spontaneous abortion rate of aneuploid fetuses.
- Included 188 aneuploid infants with CCMs detectable by fetal echocardiography.
Main Results:
- An estimated threefold increase in aneuploidy risk was observed compared to the 13% incidence in live births.
- The study suggests a significantly higher prevalence of aneuploidy in fetuses with CCMs than previously recognized.
Conclusions:
- Cytogenetic analysis is recommended for fetuses diagnosed with congenital cardiovascular malformations via echocardiography.
- Early identification of chromosomal abnormalities can inform clinical management and genetic counseling.
Abstract:
Prenatal diagnosis of congenital cardiovascular malformations by echocardiography may signal associated chromosome abnormalities. The exact proportion of these associations is not known but is expected to be higher than that with live-birth. To estimate the risk that a fetus with an echocardiographically detected heart defect has an autosomal trisomy or Turner syndrome, we adjusted the known frequency of aneuploidy in live-born infants with congenital cardiovascular malformations by the reported rate of spontaneous abortion, with data from a population-based case-control study of congenital cardiovascular malformations in which 268 cases (12.7%) had both congenital cardiovascular malformations and a chromosome abnormality. Included in the present analysis were 188 aneuploid infants with congenital cardiovascular malformations that would have been detectable by fetal echo. When data are adjusted for the high spontaneous abortion rate of aneuploid fetuses, we estimate that there would have been more than a threefold increase in aneuploidy over the 13% seen at live-birth. Thus cytogenetic analysis is appropriate in a fetus with echo-diagnosed congenital cardiovascular malformations.