L Wilkins-Haug1, D J Roberts, C C Morton. 1. Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Abstract
OBJECTIVE: Our purpose was to determine the frequency of confined placental mosaicism in newborns with unexplained intrauterine growth retardation compared with infants with appropriate in utero growth. STUDY DESIGN: Amnion, chorion, and villi from 12 growth-retarded infants and 24 appropriately grown, matched controls were karyotyped. Fluorescence in situ hybridization with chromosome-specific probes was then used to confirm the karyotypic abnormality at additional uncultured placental sites. RESULTS: Karyotype analysis revealed placental mosaicism involving either aneuploidy or polyploidy in three of 12 (25%) cases versus two of 24 (8.3%) controls. Fluorescence in situ hybridization confirmed the karyotypic abnormalities in the placentas from growth-retarded infants only. CONCLUSION: Confined placental mosaicism was identified three times more frequently from placentas of growth-retarded infants compared with those of newborns with appropriate growth. Molecular studies of the placentas suggested a wider distribution of cells with abnormal karyotypes in cases compared with controls and support a biologic influence of placental mosaicism on fetal growth.
OBJECTIVE: Our purpose was to determine the frequency of confined placental mosaicism in newborns with unexplained intrauterine growth retardation compared with infants with appropriate in utero growth. STUDY DESIGN: Amnion, chorion, and villi from 12 growth-retardedinfants and 24 appropriately grown, matched controls were karyotyped. Fluorescence in situ hybridization with chromosome-specific probes was then used to confirm the karyotypic abnormality at additional uncultured placental sites. RESULTS: Karyotype analysis revealed placental mosaicism involving either aneuploidy or polyploidy in three of 12 (25%) cases versus two of 24 (8.3%) controls. Fluorescence in situ hybridization confirmed the karyotypic abnormalities in the placentas from growth-retardedinfants only. CONCLUSION: Confined placental mosaicism was identified three times more frequently from placentas of growth-retardedinfants compared with those of newborns with appropriate growth. Molecular studies of the placentas suggested a wider distribution of cells with abnormal karyotypes in cases compared with controls and support a biologic influence of placental mosaicism on fetal growth.
Authors: Margareta D Pisarska; Marzieh Akhlaghpour; Bora Lee; Gillian M Barlow; Ning Xu; Erica T Wang; Aaron J Mackey; Charles R Farber; Stephen S Rich; Jerome I Rotter; Yii-der I Chen; Mark O Goodarzi; Seth Guller; John Williams Journal: Prenat Diagn Date: 2016-11-07 Impact factor: 3.050
Authors: Giulia F Del Gobbo; Yue Yin; Sanaa Choufani; Emma A Butcher; John Wei; Evica Rajcan-Separovic; Hayley Bos; Peter von Dadelszen; Rosanna Weksberg; Wendy P Robinson; Ryan K C Yuen Journal: Mol Med Date: 2021-01-07 Impact factor: 6.354