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Genetics of stillbirth
1Obstetrics & Gynecology, Columbia University, Medical Center, New York, New York 10032, USA. rw2191@columbia.edu
Clinical Obstetrics and Gynecology
|July 28, 2010
Summary
Genetic factors cause about 25% of stillbirths, including common chromosomal issues like trisomy 21. Advanced genetic testing will reveal more causes, improving genetic counseling for stillbirth cases.
Area of Science:
- Medical Genetics
- Reproductive Medicine
- Fetal Medicine
Background:
- Genetic etiologies account for approximately 25% of stillbirth cases.
- Common cytogenetic abnormalities in stillbirth include 45X, trisomy 21, trisomy 18, and trisomy 13, mirroring liveborn findings.
- Increased prevalence of cytogenetic abnormalities is observed when fetal structural anomalies are present.
Purpose of the Study:
- To review the current understanding of genetic causes of stillbirth.
- To highlight the role of cytogenetic abnormalities and single gene disorders.
- To emphasize the potential of emerging technologies in identifying new genetic etiologies.
Main Methods:
- Review of existing literature on genetic causes of stillbirth.
- Analysis of common cytogenetic abnormalities (e.g., aneuploidies).
- Discussion of Mendelian and metabolic disorders implicated in stillbirth.
Main Results:
- Cytogenetic abnormalities are a significant contributor to stillbirth, particularly when fetal anomalies are detected.
- While common aneuploidies are well-recognized, Mendelian and metabolic causes are less understood.
- New genetic and molecular technologies are expected to uncover additional causes.
Conclusions:
- Genetic factors play a crucial role in a substantial portion of stillbirths.
- Further research and technological advancements are vital for a comprehensive understanding of stillbirth etiologies.
- Improved identification of genetic causes will enhance genetic counseling and management for affected families.
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