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Chantal Deden Kornelia Neveling Dimitra Zafeiropopoulou Christian Gilissen Rolph Pfundt Tuula Rinne Nicole de Leeuw Brigitte Faas Thatjana Gardeitchik Suzanne C. E. H. Sallevelt Aimee Paulussen Servi J. C. Stevens Esther Sikkel Mariet W. Elting Merel C. van Maarle Karin E. M. Diderich Nicole Corsten-Janssen Klaske D. Lichtenbelt Guus Lachmeijer Lisenka E. L. M. Vissers Helger G. Yntema Marcel Nelen Ilse Feenstra Wendy A. G. van Zelst-Stams 《黑龙江环境通报》2020,40(8):972-983
Objective
The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.Methods
In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).Results
A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.Conclusions
These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making. 相似文献
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