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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)2462-2467
Number of pages6
JournalGenetics in Medicine
Volume21
Issue number11
DOIs
StatePublished - 1 Nov 2019

Keywords

  • chromosomal microarray analysis
  • karyotype
  • low-risk pregnancies
  • noninvasive prenatal screening
  • prenatal diagnosis

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