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

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...

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Published in:Healthcare (Basel) 2022-12, Vol.10 (12), p.2521
Main Authors: 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
Format: Article
Language:English
Subjects:
Amniotic fluid
Bioinformatics
Biopsy
Birth defects
Chromosomes
Congenital diseases
Counseling
Diagnosis
Exome sequencing
Fetuses
Genetic disorders
Genomes
Hydrops fetalis
Laboratories
Medical diagnosis
Methods
Mutation
Parents & parenting
Pregnancy
Pregnant women
Prenatal diagnosis
Ultrasonic imaging
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Summary: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.
ISSN:2227-9032
2227-9032
DOI:10.3390/healthcare10122521