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Published on: June 29, 2013
The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction-A Systematic Review and Meta-Analysis
Ioakeim Sapantzoglou1, Evangelia Kontogeorgi1, Vasilios Pergialiotis1
11st Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Abstract:
The main objective of our study was to conduct a systematic literature review and a meta-analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines. It included all observational studies that reported the results of CMA testing in fetuses diagnosed with growth restriction without additional findings (isolated FGR), with structural abnormalities (malformed FGR) and with the presence of additional findings that would not qualify as structural abnormalities (nonmalformed FGR). The study included 22 studies with a total of 2275 cases of affected fetuses that met the inclusion criteria for analysis. Combined data from these studies revealed an overall 3% incremental yield of CMA over karyotyping (95% CI 2%-5%) in isolated cases, an overall 4% incremental yield of CMA over karyotyping (95% CI 3%-5%) in nonmalformed FGR cases and an overall 10% incremental yield (95% CI -13%) in malformed FGR cases. Our findings may be useful in clinical practice to guide management options and the counseling of the couples to individualize patient care and facilitate clinicians when they come across such a common clinical entity.
Insights
Chromosomal microarray analysis (CMA) offers a higher diagnostic yield than karyotyping for fetal growth restriction (FGR). CMA provides incremental benefits in isolated, nonmalformed, and malformed FGR cases, aiding clinical management and counseling.
Area of Science:
- Genetics
- Reproductive Medicine
- Medical Diagnostics
Background:
- Fetal growth restriction (FGR) is a common pregnancy complication.
- Karyotyping is the standard genetic test for FGR, but its diagnostic yield can be limited.
- Chromosomal microarray analysis (CMA) offers higher resolution for detecting chromosomal abnormalities.
Purpose of the Study:
- To systematically review and meta-analyze the incremental yield of CMA compared to karyotyping in FGR.
- To evaluate CMA's utility across different FGR classifications: isolated, nonmalformed, and malformed.
- To inform clinical practice and genetic counseling for FGR cases.
Main Methods:
- Systematic literature review adhering to PRISMA guidelines.
- Meta-analysis of 22 observational studies including 2275 fetuses with FGR.
- Analysis of CMA results versus karyotyping in isolated, nonmalformed, and malformed FGR.
Main Results:
- CMA showed a 3% incremental yield over karyotyping in isolated FGR (95% CI 2%-5%).
- CMA demonstrated a 4% incremental yield in nonmalformed FGR (95% CI 3%-5%).
- CMA yielded a 10% incremental benefit in malformed FGR (95% CI -13%).
Conclusions:
- CMA provides a significant incremental diagnostic yield compared to karyotyping in various FGR categories.
- These findings support the use of CMA for improved genetic diagnosis in FGR.
- The results aid in individualizing patient care and counseling for couples affected by FGR.
