Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics

Genes (Basel). 2020 Dec 3;11(12):1454. doi: 10.3390/genes11121454.


Prenatal detection of uniparental disomy (UPD) is a methodological challenge, and a positive testing result requires comprehensive considerations on the clinical consequences as well as ethical issues. Whereas prenatal testing for UPD in families which are prone to UPD formation (e.g., in case of chromosomal variants, imprinting disorders) is often embedded in genetic counselling, the incidental identification of UPD is often more difficult to manage. With the increasing application of high-resolution test systems enabling the identification of UPD, an increase in pregnancies with incidental detection of UPD can be expected. This paper will cover the current knowledge on uniparental disomies, their clinical consequences with focus on prenatal testing, genetic aspects and predispositions, genetic counselling, as well as methods (conventional tests and high-throughput assays).

Keywords: next generation genomics; non-invasive prenatal testing; prenatal testing; uniparental disomy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Genetic Counseling / methods
  • Genomics / methods
  • Humans
  • Incidental Findings
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Uniparental Disomy / diagnosis*
  • Uniparental Disomy / genetics*