Liat Salzer-Sheelo1,2, Uri Polak3,4,5, Ayelet Barg6, Sarit Kahana7, Shiri Yacobson7, Ifaat Agmon-Fishman7, Cochava Klein7, Reut Matar7, Noa Rurman-Shahar7, Lena Sagi-Dain8, Lina Basel-Salmon7,9,10,11, Idit Maya7,9, Rivka Sukenik-Halevy7,9. 1. The Raphael Recanati Genetic Institute, Rabin Medical Center, 49100, Petah Tikva, Israel. liatsalzer@gmail.com. 2. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. liatsalzer@gmail.com. 3. Pediatric Cardiac Critical Care Unit, Hadassah University Medical Center, Ein Kerem, Jerusalem, Israel. 4. Pediatric Cardiology, Hadassah University Medical Center, Ein Kerem, Jerusalem, Israel. 5. The Hebrew University Hadassah Medical School, Jerusalem, Israel. 6. Maccabi Health Care, Tel Aviv, Israel. 7. The Raphael Recanati Genetic Institute, Rabin Medical Center, 49100, Petah Tikva, Israel. 8. Genetics Institute, Carmel Medical Center, Affiliated To the Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. 9. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. 10. Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel. 11. Pediatric Genetics Unit, Schneider Children's Medical Center, Petah Tikva, Israel.
Abstract
PURPOSE: This study aimed to evaluate the prevalence of clinically significant (pathogenic and likely pathogenic) variants detected by chromosomal microarray (CMA) tests performed for prenatally and postnatally detected congenital heart defects. METHODS: A retrospective evaluation of CMA analyses over a period of four years in a single tertiary medical center was performed. Detection rate of clinically significant variants was calculated in the whole cohort, prenatal vs. postnatal cases, and isolated vs. non-isolated CHD. This rate was compared to previously published control cohorts, and to a theoretical detection rate of noninvasive prenatal testing (NIPS; 5 chromosomes). RESULTS: Of the 885 cases of CHD, 111 (12.5%) clinically significant variants were detected, with no significant difference between the 498 prenatal and the 387 postnatal cases (10.8% vs. 14.7%, p = 0.08). In both groups, the detection rate was significantly higher for non-isolated vs. isolated CHD (76/339 = 22.4% vs. 35/546 = 6.4%, respectively, p < 0.05). The detection rate was higher than the background risk in both groups, including cases of postnatal isolated CHD. 44% of abnormal findings in the prenatal setting would be detectable by NIPS. CONCLUSION: CMA should be performed for both prenatally and postnatally detected CHD, including postnatal cases of isolated CHD, while NIPS can be considered in specific scenarios.
PURPOSE: This study aimed to evaluate the prevalence of clinically significant (pathogenic and likely pathogenic) variants detected by chromosomal microarray (CMA) tests performed for prenatally and postnatally detected congenital heart defects. METHODS: A retrospective evaluation of CMA analyses over a period of four years in a single tertiary medical center was performed. Detection rate of clinically significant variants was calculated in the whole cohort, prenatal vs. postnatal cases, and isolated vs. non-isolated CHD. This rate was compared to previously published control cohorts, and to a theoretical detection rate of noninvasive prenatal testing (NIPS; 5 chromosomes). RESULTS: Of the 885 cases of CHD, 111 (12.5%) clinically significant variants were detected, with no significant difference between the 498 prenatal and the 387 postnatal cases (10.8% vs. 14.7%, p = 0.08). In both groups, the detection rate was significantly higher for non-isolated vs. isolated CHD (76/339 = 22.4% vs. 35/546 = 6.4%, respectively, p < 0.05). The detection rate was higher than the background risk in both groups, including cases of postnatal isolated CHD. 44% of abnormal findings in the prenatal setting would be detectable by NIPS. CONCLUSION: CMA should be performed for both prenatally and postnatally detected CHD, including postnatal cases of isolated CHD, while NIPS can be considered in specific scenarios.
Authors: Katarzyna Derwińska; Magdalena Bartnik; Barbara Wiśniowiecka-Kowalnik; Mateusz Jagła; Andrzej Rudziński; Jacek J Pietrzyk; Wanda Kawalec; Lidia Ziółkowska; Anna Kutkowska-Kaźmierczak; Tomasz Gambin; Maciej Sykulski; Chad A Shaw; Anna Gambin; Tadeusz Mazurczak; Ewa Obersztyn; Ewa Bocian; Paweł Stankiewicz Journal: Med Wieku Rozwoj Date: 2012 Jul-Sep