title: Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey.
abstract: 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.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, U.K.
authors.forename: J
authors.initials: J
authors.lastname: Wolstenholme
authors.forename: D E
authors.initials: DE
authors.lastname: Rooney
authors.forename: E V
authors.initials: EV
authors.lastname: Davison
mesh_terms: D000328:Adult; D001724:Birth Weight; D002869:Chromosome Aberrations; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008423:Maternal Age; D009030:Mosaicism; D010920:Placenta; D011247:Pregnancy; D011256:Pregnancy Outcome; D018566:Pregnancy, High-Risk; D012189:Retrospective Studies; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D006113:United Kingdom