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. 2018 Dec;132(6):1368-1375.
doi: 10.1097/AOG.0000000000002975.

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

Lena Sagi-Dain  1 , Idit Maya, Adi Reches, Ayala Frumkin, Julia Grinshpun-Cohen, Reeval Segel, Esther Manor, Morad Khayat, Tamar Tenne, Ehud Banne, Adel Shalata, Hagith Yonath, Racheli Berger, Amihood Singer, Shay Ben-Shachar
Affiliations

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

Lena Sagi-Dain et al. Obstet Gynecol. 2018 Dec.

Abstract

Objective: To examine chromosomal microarray analysis results in pregnancies with various ultrasonographic anomalies and to characterize the copy number variants in diverse fetal phenotypes.

Methods: We retrospectively examined chromosomal microarray analyses of amniocenteses performed nationwide as a result of fetal ultrasonographic anomalies (structural defects, fetal growth restriction, and polyhydramnios) between January 2013 and September 2017. The rate of abnormal chromosomal microarray findings was compared between the different phenotypes and with a previously described control population of 15,225 pregnancies with normal ultrasonographic findings.

Results: Clinically significant chromosomal microarray aberrations were detected in 272 of 5,750 pregnancies (4.7%): 115 (2%) karyotype-detectable and 157 (2.7%) submicroscopic. Most commonly detected copy number variants were 22q11.21 deletions (0.4%) followed by 22q11.21 gain of copy number (0.2%). Specific copy number variants detected among pregnancies with abnormal ultrasonographic findings were up to 20-fold more prevalent compared with low-risk pregnancies. Some variants were associated with specific phenotypes (eg, 22q11.21 microdeletions with cardiovascular and 17q12 microdeletions with genitourinary defects).

Conclusion: The rate of abnormal amniotic chromosomal microarray analysis results is twice that of karyotypic abnormalities in pregnancies with various abnormal ultrasonographic findings.

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Comment in

  • Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.
    Jelin A, Sagaser K, Lawson C, Forster KR, Leppert K, Hertenstein C, Batista D, Blakemore K. Jelin A, et al. Obstet Gynecol. 2019 Apr;133(4):827-828. doi: 10.1097/AOG.0000000000003207. Obstet Gynecol. 2019. PMID: 30913182 Free PMC article. No abstract available.
  • In Reply.
    Sagi-Dain L, Maya I, Singer A, Ben-Shachar S. Sagi-Dain L, et al. Obstet Gynecol. 2019 Apr;133(4):828. doi: 10.1097/AOG.0000000000003208. Obstet Gynecol. 2019. PMID: 30913183 No abstract available.

References

    1. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, et al. Strong association of de novo copy number mutations with autism. Science 2007;316:445–9.
    1. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011;43:838–46.
    1. Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006;149:98–102.
    1. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, et al. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 2008;122:1310–8.
    1. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749–64.

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