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Chromosomal Microarray Analysis Compared With Noninvasive Prenatal Testing in Pregnancies With Abnormal Maternal

Lena Sagi-Dain1, Liat Salzer Sheelo, Dana Brabbing-Goldstein

  • 1Genetics Institute, Carmel Medical Center, affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, and the Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, the Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, and the Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.

Obstetrics and Gynecology
|May 16, 2022
PubMed
Summary

Clinically significant chromosomal microarray analysis results occur in 1 in 50 high-risk pregnancies even after normal noninvasive prenatal testing (NIPT). Invasive testing is recommended for these pregnancies, as NIPT may miss other chromosomal disorders.

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Area of Science:

  • Prenatal Diagnosis
  • Genetics
  • Obstetrics

Background:

  • Abnormal maternal serum screening (MSS) in pregnancy necessitates further investigation.
  • Noninvasive prenatal testing (NIPT) is a common screening tool, but its limitations in detecting all chromosomal abnormalities are recognized.

Purpose of the Study:

  • To evaluate the impact of maternal age on clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with abnormal MSS.
  • To determine the residual risk of CMA abnormalities after excluding NIPT-detectable aberrations in pregnancies with abnormal MSS.

Main Methods:

  • Retrospective analysis of CMA tests in pregnancies with abnormal MSS and normal ultrasound (2013-2021).
  • Comparison with a control cohort of low-risk pregnancies stratified by maternal age.
  • Systematic review of studies on CMA yield in abnormal MSS pregnancies.

Main Results:

  • Clinically significant CMA results were found in 3.8% of pregnancies with abnormal MSS.
  • The residual risk for CMA aberrations after theoretically normal NIPT was 2.0% (1/50), higher in women under 35.
  • Systematic review confirmed a 2.3% residual risk after theoretically normal NIPT.

Conclusions:

  • Invasive testing, not solely NIPT, is advised for pregnancies with abnormal MSS due to the residual risk of significant CMA findings.
  • Using NIPT as a primary screening tool might overlook pregnancies at risk for a broader range of chromosomal disorders beyond common trisomies.