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. 2022 Dec 13;10(12):2521.
doi: 10.3390/healthcare10122521.

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory

Theodora Hei Tung Lai  1 , Leung Kuen Sandy Au  1   2 , Yuen Ting Eunice Lau  1   2 , Hei Man Lo  1   2 , Kelvin Yuen Kwong Chan  1   2 , Ka Wang Cheung  1 , Teresa Wei Ling Ma  3 , Wing Cheong Leung  4 , Choi Wah Kong  5 , Wendy Shu  6 , Po Lam So  7 , Anna Ka Yee Kwong  8 , Christopher Chun Yu Mak  8 , Mianne Lee  8 , Martin Man Chun Chui  8 , Brian Hon Yin Chung  8 , Anita Sik Yau Kan  1
Affiliations

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory

Theodora Hei Tung Lai et al. Healthcare (Basel). .

Abstract

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.

Keywords: genetic counselling; prenatal diagnosis; prenatal whole exome sequencing.

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Conflict of interest statement

The authors declare no conflict of interest.

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