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


  • Irene WY LOK
  • Anita SY KAN
  • Mullin HC YU
  • Brian HY CHUNG
  • William WK TO




CHARGE syndrome, Prenatal diagnosis, Whole exome sequencing


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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How to Cite

LOK IW, KONG C, KAN AS, YEUNG K, YU MH, CHUNG BH, TO WW. Whole exome sequencing for prenatal diagnosis of CHARGE syndrome: a case report. Hong Kong J Gynaecol Obstet Midwifery [Internet]. 2023 Apr. 6 [cited 2024 Feb. 29];19(2). Available from: https://hkjgom.org/home/article/view/270



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