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Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

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

doi: 10.1097/AOG.0000000000002975
Contents: Genetics: Original Research

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.

The rate of abnormal amniotic chromosomal microarray analysis results in pregnancies with various abnormal ultrasonographic findings is twice that of karyotype-detectable abnormalities.

Genetics Institute, Carmel Medical Center, Haifa, the Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, the Genetics Institute, Tel Aviv Sourasky Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, the Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, the Genetic Institute, Assaf Harofeh Medical Center, Zerifin, the Medical Genetics Institute, Shaare Zedek Medical Center and the Hebrew University School of Medicine, Jerusalem, the Genetic Institute, Soroka University Medical Center, Faculty of Health Sciences Ben-Gurion University of the Negev, Negev, the Institute of Human Genetics, Haemek Medical Center, Afula, the Medical Genetics Institute, Meir Medical Center, Kfar Saba, the Genetics Institute, Kaplan Medical Center, Rehovot, affiliated to the Hebrew University and Hadassah Medical School, Jerusalem, the Genetics Institute, Bnai Zion Medical Center, Haifa, the Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Cytogenetic Maccabi Health Care, Tel Aviv, and Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

Corresponding author: Lena Sagi-Dain, MD, Carmel Medical Center, Genetics Institute, Haifa, Israel; email:

Financial Disclosure The authors did not report any potential conflicts of interest.

The authors thank Esther Eshkol for editorial assistance.

Each author has indicated that he or she has met the journal's requirements for authorship.

Peer review history is available at

Received July 16, 2018

Received in revised form September 09, 2018

Accepted September 13, 2018

© 2018 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.