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Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China
Xiaomei Luo1, Hong Zhu2, Lili Wang1
1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Taiwanese Journal of Obstetrics & Gynecology
|March 8, 2021
Summary
Prenatal chromosomal microarray analysis (CMA) shows varied diagnostic yields across different high-risk pregnancy indications. CMA is particularly valuable for structural anomalies, aiding genetic counseling and prenatal diagnosis.
Area of Science:
- Prenatal diagnostics
- Genetics
- Medical technology
Background:
- Prenatal diagnosis is crucial for identifying fetal genetic conditions.
- Chromosomal microarray analysis (CMA) is an advanced genetic testing method.
- Evaluating CMA's diagnostic utility across various high-risk pregnancy indications is essential.
Purpose of the Study:
- To assess the diagnostic value of prenatal chromosomal microarray analysis (CMA).
- To determine the diagnostic yield of CMA for fetuses with specific high-risk indications.
Main Methods:
- Retrospective analysis of 1256 pregnancies undergoing invasive CMA.
- Indications included ultrasound anomalies, high-risk serum screening (MSS), non-invasive prenatal tests (NIPT), family history, and advanced maternal age (AMA).
- Comparison of clinically significant genomic imbalance rates among different risk groups.
Main Results:
- Overall prenatal diagnostic yield was 7.8% (98/1256).
- Highest yields observed in high-risk NIPT (26.6%) and structural ultrasound anomalies (12.7%).
- Submicroscopic findings were noted in 29 fetuses, predominantly with structural anomalies.
Conclusions:
- Diagnostic yields of CMA vary significantly based on pregnancy indication.
- CMA is recommended as a first-tier test for structural anomalies, including multiple, craniofacial, urinary, and cardiac defects.
- Findings support CMA's role in improving prenatal diagnosis and informing genetic counseling.
