Keren Tzadikevitch Geffen1,2, Amihood Singer3, Idit Maya4, Lena Sagi-Dain5, Morad Khayat6, Shay Ben-Shachar7,8, Hagit Daum9, Rachel Michaelson-Cohen10, Michal Feingold-Zadok7,11, Rivka Sukenik Halevy7,4. 1. Department of Obstetrics and Gynecology, Meir Medical Center, 59 Tchernichovsky St, 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. Rabin Medical Center, Recanati Genetics Institute, Petah Tikva, Israel. 5. Genetics Institute, Carmel Medical Center, affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel. 6. Genetics Institute, Emek Medical Center, Afula, Israel. 7. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 8. The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. 9. Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 10. Genetics Institute and Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel. 11. Genetic Institute, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel.
Abstract
PURPOSE: To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound. METHODS: The study cohort was based on cases of chromosomal microarray analyses performed nationwide for the indication of short long bones. RESULTS: CMA was performed in 66 cases of short long bones. There were 4 cases with a pathogenic/likely pathogenic result (6%). The rate of chromosomal abnormalities was significantly higher compared to the background risk for copy number variations (CNVs) in pregnancies with no sonographic anomalies (P < 0.001). The yield of CMA in our cohort was significantly higher for both isolated and non-isolated cases, for cases in which the lowest estimated bone length percentile was above the 3rd percentile (below 5th percentile), and for cases diagnosed with short long bones after 22 weeks but not for cases diagnosed after 24 weeks. CONCLUSION: The yield of CMA in cases with short long bones (both isolated and non-isolated) is significantly higher than the background risk for chromosomal anomalies in pregnancies with no sonographic anomalies. This suggests that CMA should be offered in pregnancies with a diagnosis of fetal short long bones.
PURPOSE: To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound. METHODS: The study cohort was based on cases of chromosomal microarray analyses performed nationwide for the indication of short long bones. RESULTS: CMA was performed in 66 cases of short long bones. There were 4 cases with a pathogenic/likely pathogenic result (6%). The rate of chromosomal abnormalities was significantly higher compared to the background risk for copy number variations (CNVs) in pregnancies with no sonographic anomalies (P < 0.001). The yield of CMA in our cohort was significantly higher for both isolated and non-isolated cases, for cases in which the lowest estimated bone length percentile was above the 3rd percentile (below 5th percentile), and for cases diagnosed with short long bones after 22 weeks but not for cases diagnosed after 24 weeks. CONCLUSION: The yield of CMA in cases with short long bones (both isolated and non-isolated) is significantly higher than the background risk for chromosomal anomalies in pregnancies with no sonographic anomalies. This suggests that CMA should be offered in pregnancies with a diagnosis of fetal short long bones.
Entities:
Keywords:
Chromosomal microarray analysis; Fetal short long bones; Growth percentile
Authors: Artúr Beke; Csaba Papp; Ernõ Tóth-Pál; Gábor Mezei; József G Joó; Akos Csaba; Zoltán Papp Journal: J Reprod Med Date: 2005-09 Impact factor: 0.142