Healthcare (Basel, Switzerland) · 2022
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
СтатьяНазвание и аннотация: Перевод в очереди
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Lai Theodora Hei Tung, Au Leung Kuen Sandy, Lau Yuen Ting Eunice, Lo Hei Man, Chan Kelvin Yuen Kwong, Cheung Ka Wang, Ma Teresa Wei Ling, Leung Wing Cheong, Kong Choi Wah, Shu Wendy, So Po Lam, Kwong Anna Ka Yee, Mak Christopher Chun Yu, Lee Mianne, Chui Martin Man Chun, Chung Brian Hon Yin, Kan Anita Sik Yau
Аннотация
Fetal structural congenital abnormalities (SCAs) complicate 2-3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is a retrospective cohort study of 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome sequencing is performed. Molecular diagnosis was obtained in 25 of the 104 fetuses (24%). The highest diagnostic rate was found in fetuses with multiple SCAs (29.2%), particularly those with involvement of the cardiac and musculoskeletal systems. Variants of uncertain significance were detected in 8 out of the 104 fetuses (7.7%). Our study shows the utility of WES in the prenatal setting, and the extended use of the technology would be recommended in addition to conventional genetic workup.