Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey

Prenat Diagn. 1994 May;14(5):345-61. doi: 10.1002/pd.1970140505.


In a retrospective collaborative study involving 21 U.K. laboratories and 11,775 CVS prenatal diagnostic procedures, a total of 73 cases of confined placental mosaicism (CPM) were identified among the 8004 first-trimester referrals because of advanced maternal age, a previous child with a numerical chromosome abnormality, or a family history of the same. Data were collected on subsequent cytogenetic follow-up and pregnancy outcome for each case and a referral matched control. Comparison with the control population failed to demonstrate a marked increase in adverse pregnancy outcome in the CPM group, but a significant increase in both low and high birth weight infants was recorded. In a parallel study, 7 out of 108 cases, referred for prenatal diagnosis because of ultrasound detection of isolated intrauterine growth retardation (IUGR) in the second or third trimester, were shown to have a chromosome abnormality restricted to the extraembryonic tissues. These included cases of CPM involving trisomy 9 and del(13)(q13), neither of which has previously been reported in association with IUGR.

MeSH terms

  • Adult
  • Birth Weight
  • Chromosome Aberrations*
  • Female
  • Fetal Growth Retardation / genetics*
  • Gene Deletion
  • Humans
  • Male
  • Maternal Age
  • Mosaicism*
  • Placenta*
  • Pregnancy
  • Pregnancy Outcome*
  • Pregnancy, High-Risk
  • Retrospective Studies
  • Trisomy
  • Ultrasonography, Prenatal
  • United Kingdom