Journal Article

Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies

Matar, Reut, Basel-Salmon, Lina, Agmon-Fishman, Ifat, Klein, Cochava, Tenne, Tamar, Sagi-Dain, Lena, Yacobson, Shiri, Kahana, Sarit, Maya, Idit, Cohen Vig, Lital

2019

Overview

Purpose To evaluate the diagnostic yield of chromosomal microarray (CMA) in pregnancies with normal ultrasound. Methods This retrospective cohort analysis included all pregnancies with normal ultrasound undergoing CMA testing between the years 2010 and 2016. We calculated the rate of detection of clinically significant CMA findings in the whole cohort and according to various indications. Results Of 5541 CMA analyses, clinically significant findings were yielded in 78 cases (1.4%). Of these, 31 (39.7%) variants could have theoretically been detected by karyotyping (e.g., sized above 10 Mb), and 28 (35.9%) by noninvasive prenatal screening aimed at five common aneuploidies. Of the 47 submicroscopic findings detectable by CMA only, the majority (37 cases, 78.7%) represented known recurrent syndromes. Detection of clinically significant CMA findings in women with no indication for invasive testing was 0.76% (21/2752), which was significantly lower compared with 1.8% in advanced maternal age group (41/2336), 2.8% in abnormal biochemical serum screening (6/211), and 4.1% (10/242) in fetuses with sonographic soft markers. Conclusion Clinically significant CMA aberrations are detected in 1 of 71 pregnancies with normal ultrasound, and in 1 of 131 women with no indication for invasive testing. Thus, CMA might be recommended a first-tier test in pregnancies with normal ultrasound.

• Publisher: Nature Publishing Group US,Elsevier Limited
• Subject: Aneuploidy / Biomedical and Life Sciences / Biomedicine / Chromosome Aberrations - embryology / Chromosome Disorders - diagnosis / Cohort Studies / Female / Genetic Testing - methods / Health risk assessment / Human Genetics / Humans / Karyotyping - methods / Laboratory Medicine / Microarray Analysis - methods / Pregnancy / Prenatal Diagnosis - methods / Retrospective Studies / Ultrasonic imaging / Ultrasonography, Prenatal - methods