Universal chromosomal microarray analysis reveals high proportion of copy‐number variants in low‐risk pregnancies
Ultrasound in Obstetrics & Gynecology Apr 08, 2021
Stern S, Hacohen N, Meiner V, et al. - The yield and utility of the routine use of chromosomal microarray analysis (CMA) for prenatal genetic diagnosis was examined in a large cohort of pregnancies with normal ultrasound (US) at the time of genetic testing, relative to pregnancies with abnormal US findings. Researchers reviewed all prenatal CMA results in their center between November 2013 and December 2018 and compared the prevalence of different CMA results in pregnancies with normal US at the time of genetic testing (‘low‐risk pregnancies’), with that in pregnancies with abnormal US findings (‘high‐risk pregnancies’). The prevalence of a clinically significant CNV related to early‐onset disease was 1.1% (72/6431) in a cohort of 6,431 low‐risk pregnancies (pregnancies with normal US at the time of genetic testing) that underwent CMA, which was significantly lower relative to the prevalence in high‐risk pregnancies (pregnancies with abnormal US findings). Findings overall suggest that despite a low background risk of recognizing a clinically significant early‐onset abnormal CMA result in pregnancies with a low a‐priori risk relative to that observed in high‐risk pregnancies, the risk is noted to be substantial and should be conveyed to all pregnant women.
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