Human maternal uniparental disomy for chromosome 16 and fetal development

Prenat Diagn. 1994 Aug;14(8):751-6. doi: 10.1002/pd.1970140817.


Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of the membranes, and growth retardation detectable at 21 weeks' gestation, whilst the other had an unexplained raised maternal serum human chorionic gonadotrophin level, a two-vessel cord on ultrasound, and cessation of growth at 25 weeks. At post-mortem, both babies had an imperforate anus. Fetal maternal UPD may explain the poor outcome that occurs in some cases of confined placental mosaicism for chromosome 16 and is also associated with specific fetal abnormalities.

Publication types

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

MeSH terms

  • Adult
  • Chorionic Gonadotropin / blood
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 16*
  • DNA / analysis
  • Female
  • Fetal Growth Retardation / genetics*
  • Fetal Membranes, Premature Rupture
  • Gestational Age
  • Humans
  • Mosaicism
  • Polymerase Chain Reaction
  • Pregnancy
  • Trisomy*
  • Ultrasonography, Prenatal
  • alpha-Fetoproteins / analysis


  • Chorionic Gonadotropin
  • alpha-Fetoproteins
  • DNA