Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
Prenatal Diagnosis2022Vol. 42(7), pp. 862–872
Citations Over TimeTop 12% of 2022 papers
Ye Cao, Matthew Hoi Kin Chau, Yu Zheng, Ying Zhao, Angel Hoi Wan Kwan, Shuk Yi Annie Hui, Y. H. Lam, T. Y. T. Tan, Wing Ting Tse, Lo Wong, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy
Abstract
GS expands the diagnostic scope of mutation types over conventional testing, revealing the genetic etiology for fetal heart anomalies. Patients without a known genetic abnormality indicated by GS likely opted to keep pregnancy especially if the heart defect could be surgically repaired. We provide evidence to support the application of GS for fetuses with CHD.
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