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The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities
Eyal Elron1,2,3,4, Idit Maya3,4, Noa Shefer-Averbuch2,3,4,5
1Department of Neonatology, Schneider Children's Medical Center, Petah Tikva, Israel.
American Journal of Perinatology
|April 30, 2024
Summary
Chromosomal microarray analysis (CMA) is valuable for third-trimester fetal anomalies, yielding 6.2% for significant copy number variations (CNVs). This method detects findings potentially missed by noninvasive prenatal testing (NIPT), highlighting the importance of genetic counseling.
Area of Science:
- Prenatal diagnostics
- Medical genetics
- Fetal medicine
Background:
- Third-trimester fetal anomalies present diagnostic challenges.
- Identifying genetic causes is crucial for management and counseling.
Purpose of the Study:
- To evaluate the diagnostic yield of chromosomal microarray analysis (CMA) for fetal abnormalities detected in the third trimester.
- To compare CMA findings with noninvasive prenatal testing (NIPT) and ultrasound correlations.
Main Methods:
- Retrospective review of medical records for amniocentesis from 28 weeks gestation.
- Inclusion of pregnancies with sonographic findings not detected before 28 weeks.
- Analysis of chromosomal microarray (CMA) results for copy number variations (CNVs).
Main Results:
- Overall CMA diagnostic yield was 6.2% (30/482) for clinically significant CNVs.
- Yield was higher with multiple malformations (16.4%) versus single anomalies (7.3%).
- CMA identified findings potentially missed by NIPT, with 80% concordance between CMA and ultrasound findings.
Conclusions:
- CMA is a valuable tool for diagnosing late-onset fetal anomalies detected in the third trimester.
- CMA offers a higher diagnostic yield than NIPT for detecting significant CNVs.
- Genetic counseling is essential for managing pregnancies with identified CNVs.
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