Original Research Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis Hagit Hochner, PhD, Hagit Daum, MD, Liza Douiev, MSc, Naama Zvi, MSc, Ayala Frumkin, PhD, Michal Macarov, MSc, Adva Kimchi-Shaal, MSc, Nuphar Hacohen, MSc, Avital Eilat, MSc, Duha Faham, MSc, and Shiri Shkedi-Rafid, PhD OBJECTIVE: To examine the choices of women with both high-risk and low-risk pregnancies who are under- going prenatal chromosomal microarray analysis in a clin- ical setting regarding three challenging types of findings: variants of uncertain clinical significance, susceptibility loci for neurodevelopmental disorders, and copy num- ber variants associated with risks for adult-onset con- ditions. We assessed whether women’s choices were associated with indications for testing or with one-on- one pretest genetic counseling. METHODS: In this cross-sectional study, medical re- cords of women who underwent invasive prenatal chromosomal microarray analysis testing (N51,070) at Hadassah Medical Center between June 2017 and Feb- ruary 2018 were examined for testing indications, choices regarding chromosomal microarray analysis find- ings, and type of pretest genetic counseling. Multivari- able analyses to assess associations with testing indication and prior genetic counseling were carried out using logistic regression models. RESULTS: In total, 56% of women (n5593) chose to be informed of all three types of findings and 20% (n5218) chose not to be informed of any of the findings beyond high-penetrance childhood-onset pathogenic findings. Variants of uncertain clinical significance as a single choice was the least-selected finding (2.5%, n527). Low-risk pregnancies (ie, those with normal biochemical screening and fetal ultrasound examinations) were asso- ciated with increased interest in receiving genetic infor- mation about adult-onset conditions (adjusted odds ratio [aOR] 1.7; 95% CI 1.18–2.33) and susceptibility loci (aOR 1.5; 95% CI 1.08–2.10). CONCLUSION: Women with both high-risk and low- risk pregnancies were generally more likely to choose to receive additional genetic information, albeit differences in preferences depend on testing indication and type of pretest counseling. (Obstet Gynecol 2020;135:149–57) DOI: 10.1097/AOG.0000000000003610 S ince 2013, chromosomal microarray analysis has been the first-line test recommended in pregnan- cies with structural anomalies and increased nuchal translucency. 1 Because of its increased diagnostic yield as compared with karyotyping, the Society for Maternal-Fetal Medicine recommends giving women the option of also choosing between karyotyping and chromosomal microarray analysis in pregnancies without structural anomalies. 2,3 Several countries (eg, Belgium and Denmark) recommend chromo- somal microarray analysis as the first-tier chromo- some test when invasive testing is performed, regardless of the indication. 4,5 The major challenge in replacing karyotyping with chromosomal microarray analysis is the increased probability of identifying variants of uncer- tain clinical significance and susceptibility loci for neurodevelopmental disorders. The frequency of variants of uncertain clinical significance (copy num- ber variations, deletions or duplications) is estimated at about 1.5%, 6,7 yet it is expected that with increased From the Braun School of Public Health, the Hebrew University of Jerusalem; and the Department of Genetics and Metabolic Diseases, Hebrew University Hadassah Medical Center, Jerusalem, Israel. Each author has confirmed compliance with the journal’s requirements for authorship. Corresponding author: Shiri Shkedi-Rafid, PhD, Department of Genetics and Metabolic diseases, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel; email: shirish@ hadassah.org.il. Financial Disclosure The authors did not report any potential conflicts of interest. © 2019 by the American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved. ISSN: 0029-7844/20 © 2019 by the American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. Unauthorized reproduction of this article is prohibited. VOL. 135, NO. 1, JANUARY 2020 OBSTETRICS & GYNECOLOGY 149