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Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis.

Panlai ShiYanjie XiaQianqian LiXiangdong Kong
Published in: The journal of obstetrics and gynaecology research (2021)
In cases where prenatal fetal monogenic disease has been ruled out, CNV detection is still beneficial and should be performed to prevent missed pathogenic CNVs. However, the costs need to be balanced against benefits, and the research will need to assess other types of testing.
Keyphrases
  • copy number
  • mitochondrial dna
  • loop mediated isothermal amplification
  • genome wide
  • real time pcr
  • pregnant women
  • label free
  • dna methylation
  • quantum dots