Prenatal and preimplantation genetic diagnosis of huntington’s disease

Joep P.M. Geraedts*

*Corresponding author for this work

Research output: Contribution to journal(Systematic) Review article peer-review

Abstract

Huntington’s disease (HD) is an autosomal dominant disease that immensely impacts the affected families. However, the transmission of the disease from carriers to their offspring could be prevented. Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are the only two available reproductive options for the carriers at risk to have disease-free children. PND for HD could be done through two kinds of genetic testing: Direct and indirect. The same approaches are available for preimplantation genetic testing. In addition, a third alternative is nondisclosure testing, which is only available in the case of PGD. The pros and cons of different approaches are discussed. However, only a relatively few at-risk parents opt for PND and PGD. Furthermore, compared to PND, PGD is even more seldom opted for as a reproductive option.
Original languageEnglish
JournalOBM Neurobiology
Volume5
Issue number1
DOIs
Publication statusPublished - 1 Jan 2021

Keywords

  • Genetic testing
  • Huntington’s disease
  • Preimplantation genetic diagnosis
  • Prenatal diagnosis
  • Reproductive options

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