Whole exome sequencing for prenatal diagnosis of CHARGE syndrome: a case report

Irene WY LOK; CW KONG; Anita SY KAN; KS YEUNG; Mullin HC YU; Brian HY CHUNG; William WK TO

doi:10.12809/hkjgom.19.2.06

Authors

Irene WY LOK
CW KONG
Anita SY KAN
KS YEUNG
Mullin HC YU
Brian HY CHUNG
William WK TO

DOI:

https://doi.org/10.12809/hkjgom.19.2.06

Keywords:

CHARGE syndrome, Prenatal diagnosis, Whole exome sequencing

Abstract

We report a prenatal case of CHARGE syndrome with multiple fetal structural abnormalities detected on ultrasonography despite normal karyotype and chromosomal microarray results. Whole exome sequencing of the fetus identified a pathogenic, de novo mutation in CHD7, and hence CHARGE syndrome was molecularly confirmed. The challenges in prenatal diagnosis of CHARGE syndrome by clinical features are discussed, as are the usefulness and limitations of whole exome sequencing in prenatal diagnosis.

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