Keren Tzadikevitch Geffen1,2, Amihood Singer3, Idit Maya4, Shay Ben-Shachar5,6,7, Lena Sagi-Dain8,9, Hagit Daum10, Rachel Michaelson-Cohen11, Lior Greenbaum5,12, Michal Feingold-Zadok5,13, Rivka Sukenik Halevy5,4. 1. Department of Obstetrics and Gynecology, Meir Medical Center, Kfar Saba, Israel, kerentzad@gmail.com. 2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel, kerentzad@gmail.com. 3. Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel. 4. Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel. 5. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 6. The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. 7. Clalit Research Insatitute, Ramat Gan, Israel. 8. Genetics Institute and Department of Obstetrics and Gynecology, Carmel Medical Center, Haifa, Israel. 9. Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel. 10. Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 11. Genetics Institute and Department of OB-GYN, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel. 12. The Danek Gertner Institute of Human Genetics and The Joseph Sagol Nueroscience Center, Sheba Medical Center, Tel Hashomer, Israel. 13. Genetic Institute, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel.
Abstract
INTRODUCTION: We evaluated the yield of chromosomal microarray analysis in pregnancies complicated with fetal growth restriction (FGR) according to specific clinical parameters. METHODS: The study was based on national records from the Israeli Ministry of Health. Chromosomal microarray analyses of amniocenteses performed nationwide for the indication of FGR, from January 2016 to March 2018, were included. The CMA yield was compared to 2 cohorts that reported the background risk. RESULTS: Of 174 tests performed for the indication of FGR, there were 11 cases with a pathogenic/likely pathogenic result (6.3%). The yield of CMA was significantly higher in cases with major structural findings (29.4 vs. 3.4%, p = 0.001), compared to isolated FGR but not for minor structural findings (6.1 vs. 3.4%, p = 0.5). The rate of chromosomal aberrations was significantly higher for all cases with FGR, when compared to the background risk of a cohort of normal pregnancies (odds ratio [OR] 4.7, 95% CI 2.5-9 and OR 6.09, 95% CI 3.2-11.4) but not for isolated cases or cases diagnosed after 24 weeks of pregnancy. CONCLUSIONS: Chromosomal microarray analysis should be performed for all pregnancies complicated with FGR diagnosed before 24 weeks and for cases with major structural anomalies.
INTRODUCTION: We evaluated the yield of chromosomal microarray analysis in pregnancies complicated with fetal growth restriction (FGR) according to specific clinical parameters. METHODS: The study was based on national records from the Israeli Ministry of Health. Chromosomal microarray analyses of amniocenteses performed nationwide for the indication of FGR, from January 2016 to March 2018, were included. The CMA yield was compared to 2 cohorts that reported the background risk. RESULTS: Of 174 tests performed for the indication of FGR, there were 11 cases with a pathogenic/likely pathogenic result (6.3%). The yield of CMA was significantly higher in cases with major structural findings (29.4 vs. 3.4%, p = 0.001), compared to isolated FGR but not for minor structural findings (6.1 vs. 3.4%, p = 0.5). The rate of chromosomal aberrations was significantly higher for all cases with FGR, when compared to the background risk of a cohort of normal pregnancies (odds ratio [OR] 4.7, 95% CI 2.5-9 and OR 6.09, 95% CI 3.2-11.4) but not for isolated cases or cases diagnosed after 24 weeks of pregnancy. CONCLUSIONS: Chromosomal microarray analysis should be performed for all pregnancies complicated with FGR diagnosed before 24 weeks and for cases with major structural anomalies.