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[Fetal echocardiography and clinical genetics--a close correlation]
K Zerres1, U Gembruch, G Schwanitz
1Institut für Humangenetik, Universität Bonn.
Zeitschrift Fur Kardiologie
|February 1, 1990
Summary
Fetal echocardiography aids in diagnosing congenital heart disease (CHD) in high-risk pregnancies, improving prenatal diagnosis. It also helps identify malformation syndromes and chromosomal disorders, guiding genetic counseling.
Area of Science:
- Cardiovascular Medicine
- Clinical Genetics
- Prenatal Diagnosis
Context:
- Fetal echocardiography is crucial for identifying congenital heart disease (CHD) in high-risk pregnancies.
- CHD is a frequent manifestation of malformation syndromes and can indicate chromosomal abnormalities.
Purpose:
- To evaluate the role of fetal echocardiography in diagnosing CHD in families with increased recurrence risks.
- To assess the association between fetal CHD and chromosomal disorders in cases of congenital malformations.
Summary:
- In 473 high-risk pregnancies, 2.3% had diagnosed cardiac malformations, with 5 cases identified prenatally.
- Recurrence risk for CHD was higher in families with multiple affected children.
- Among 77 fetuses with CHD and congenital malformations, 36% had chromosomal disorders, highlighting the link between CHD and genetic conditions.
Impact:
- Improved prenatal diagnosis of CHD and associated genetic conditions.
- Enhanced genetic counseling for families with a history of CHD or malformation syndromes.
- Demonstrates the value of fetal echocardiography in clinical genetics and prenatal diagnostics.