title: Trisomy 16 confined to the placenta.
abstract: Two cases with trisomy 16 confined to the placenta are presented. Prenatal diagnosis was indicated because of fetal growth retardation. In case 1, a phenotypically normal but small-for-date boy was born. In case 2, the fetus turned out to be triploid on cordocentesis. In both instances the trisomy 16 was recovered from the placenta. Recovery indicates that the abnormality was present in the placenta during the time of fetal growth retardation, which supports an aetiological relationship. Strict appliance of the current models cannot readily explain the observed discrepancies. In case 2, a chimeric placenta as a result of a vanishing twin is assumed. Cases of placental trisomy 16 published after 1988 are reviewed. It is concluded that confined placental trisomy 16 can cause intrauterine growth retardation if present in both the direct preparation and the villus culture. The chances of finding a chromosomally abnormal fetus (mosaic trisomy 16, triploidy) after diagnosis of trisomy 16 in chorionic villi are low but warrant further investigations.
authors.affiliation: Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
authors.forename: J G
authors.initials: JG
authors.lastname: Post
authors.forename: J G
authors.initials: JG
authors.lastname: Nijhuis
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002885:Chromosomes, Human, Pair 16; D017218:Cordocentesis; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010920:Placenta / Q000648:ultrastructure*; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D014314:Trisomy; D014960:X Chromosome