Lena Sagi-Dain1, Amihood Singer2, Tzipora Falik-Zaccai3,4, Amir Peleg5, Anat Bar-Shira6, Michal Feingold-Zadok7, Shay Ben Shachar6,8, Idit Maya8,9. 1. Genetics Institute, Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. lena2303@gmail.com. 2. Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel. 3. Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel. 4. The Azrieli Faculty of Medicine, Bar-Ilan, Safed, 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. The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. 7. Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel. 8. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 9. Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel.
Abstract
PURPOSE: To analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios. METHODS: Data from all chromosomal microarray analyses (CMA) performed due to polyhydramnios between January 2013 and December 2019 were retrospectively obtained from the Ministry of Health Database. The rate of clinically significant (pathogenic and likely pathogenic) CMA findings in isolated and non-isolated polyhydramnios cohorts was compared to a local control group of 5541 fetuses with normal ultrasound, in which 78 (1.4%) abnormal results were demonstrated. Subgroup analyses were performed by the degree of polyhydramnios, week of diagnosis, maternal age, and the presence of additional sonographic anomalies. RESULTS: In the isolated polyhydramnios cohort, 19/623 (3.1%) clinically significant CMA aberrations were noted, a significantly higher rate compared to the control population. However, the risk for abnormal CMA results in the 158 cases with mild polyhydramnios (AFI 25-29.9, or maximal vertical pocket 8-11.9 cm) did not significantly differ from pregnancies with normal ultrasound. Of 119 cases of non-isolated polyhydramnios (most frequently associated with cardiovascular (26.1%) and brain (15.1%) anomalies), 8 (6.7%) abnormal CMA findings were noted, mainly karyotype-detectable. CONCLUSION: Mild polyhydramnios was not associated with an increased rate of clinically significant microarray results, compared to pregnancies with normal ultrasound. An extensive anatomical sonographic survey should be performed in pregnancies with polyhydramnios, with consideration of fetal echocardiography.
PURPOSE: To analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios. METHODS: Data from all chromosomal microarray analyses (CMA) performed due to polyhydramnios between January 2013 and December 2019 were retrospectively obtained from the Ministry of Health Database. The rate of clinically significant (pathogenic and likely pathogenic) CMA findings in isolated and non-isolated polyhydramnios cohorts was compared to a local control group of 5541 fetuses with normal ultrasound, in which 78 (1.4%) abnormal results were demonstrated. Subgroup analyses were performed by the degree of polyhydramnios, week of diagnosis, maternal age, and the presence of additional sonographic anomalies. RESULTS: In the isolated polyhydramnios cohort, 19/623 (3.1%) clinically significant CMA aberrations were noted, a significantly higher rate compared to the control population. However, the risk for abnormal CMA results in the 158 cases with mild polyhydramnios (AFI 25-29.9, or maximal vertical pocket 8-11.9 cm) did not significantly differ from pregnancies with normal ultrasound. Of 119 cases of non-isolated polyhydramnios (most frequently associated with cardiovascular (26.1%) and brain (15.1%) anomalies), 8 (6.7%) abnormal CMA findings were noted, mainly karyotype-detectable. CONCLUSION: Mild polyhydramnios was not associated with an increased rate of clinically significant microarray results, compared to pregnancies with normal ultrasound. An extensive anatomical sonographic survey should be performed in pregnancies with polyhydramnios, with consideration of fetal echocardiography.
Authors: Jodi S Dashe; Donald D McIntire; Ronald M Ramus; Rigoberto Santos-Ramos; Diane M Twickler Journal: Obstet Gynecol Date: 2002-07 Impact factor: 7.661