Prenatal diagnosis and genetic counseling of uniparental disomy

Taiwan J Obstet Gynecol. 2022 Mar;61(2):210-215. doi: 10.1016/j.tjog.2022.02.006.

Abstract

Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from a single parent. Most chromosomes involving UPD have no pathogenic effects. However, abnormal phenotypes in cases with UPD can be mainly caused by disrupting genetic imprinting and by uncovering harmful autosomal recessive mutations. The documented phenotypes of UPD associated with imprinted genes include maternal UPD for chromosomes 7, 11, 14, 15, 16, and 20, and paternal UPD for chromosomes 6, 11, 14, 15, and 20. Prenatal awareness of UPD is important to provide accurate genetic counseling and prenatal UPD test is suggested when abnormal fetal ultrasound with suspicious phenotypes for UPD syndromes caused by genetic imprinting disorders or presence of chromosomal aberrations involving the imprinted chromosomes.

Keywords: Genetic counseling; Prenatal diagnosis; Uniparental disomy.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • Female
  • Genetic Counseling*
  • Genomic Imprinting
  • Humans
  • Pregnancy
  • Prenatal Diagnosis
  • Uniparental Disomy* / diagnosis
  • Uniparental Disomy* / genetics