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

Irene WY LOK,1 CW KONG,1 Anita SY KAN,2,3 KS YEUNG,4 Mullin HC YU,4 Brian HY CHUNG,4 William WK TO,1
1 Department of Obstetrics and Gynaecology, United Christian Hospital,
2 Department of Obstetrics and Gynaecology, Queen Mary Hospital,
3 Prenatal Diagnostic Laboratory, Tsan Yuk Hospital,
4 Department of Paediatrics and Adolescent Medicine, The University of Hong Kong

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.

Hong Kong J Gynaecol Obstet Midwifery 2019; 19(2):125–8
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  Print ISSN:1608-9367
  Online ISSN:2225-904X
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