OBJECTIVE: Prenatally diagnosed confined placental trisomy is associated with increased risk for intrauterine growth restriction (IUGR) and preeclampsia. However, it is unclear how often this might underlie pregnancy complications. Our objective was to evaluate the frequency and distribution of trisomic cells in placentae ascertained for IUGR and/or preeclampsia. METHOD: Comparative genomic hybridization was applied to two uncultured biopsies from each of 61 placentae referred with maternal preeclampsia and/or IUGR, 11 cases with elevated maternal serum hCG and/or AFP but no IUGR or preeclampsia, and 85 control placentae. RESULTS: Trisomy was observed in four placentae among the IUGR group (N = 43) but in no case of preeclampsia in the absence of IUGR (N = 18). Trisomy was observed in 1 of the 11 cases ascertained for abnormal maternal serum screen. Each of these five cases was mosaic and not all sampled sites showed the presence of trisomy. None of the 84 control placentas showed mosaic trisomy, although 1 case of nonmosaic 47,XXX was identified in this group. CONCLUSION: In cases in which diagnosis of the cause of IUGR may provide some benefit, testing should be performed using uncultured cells from multiple placental biopsies for the accurate diagnosis of trisomy mosaicism. Copyright (c) 2009 John Wiley & Sons, Ltd.
OBJECTIVE: Prenatally diagnosed confined placental trisomy is associated with increased risk for intrauterine growth restriction (IUGR) and preeclampsia. However, it is unclear how often this might underlie pregnancy complications. Our objective was to evaluate the frequency and distribution of trisomic cells in placentae ascertained for IUGR and/or preeclampsia. METHOD: Comparative genomic hybridization was applied to two uncultured biopsies from each of 61 placentae referred with maternal preeclampsia and/or IUGR, 11 cases with elevated maternal serum hCG and/or AFP but no IUGR or preeclampsia, and 85 control placentae. RESULTS:Trisomy was observed in four placentae among the IUGR group (N = 43) but in no case of preeclampsia in the absence of IUGR (N = 18). Trisomy was observed in 1 of the 11 cases ascertained for abnormal maternal serum screen. Each of these five cases was mosaic and not all sampled sites showed the presence of trisomy. None of the 84 control placentas showed mosaic trisomy, although 1 case of nonmosaic 47,XXX was identified in this group. CONCLUSION: In cases in which diagnosis of the cause of IUGR may provide some benefit, testing should be performed using uncultured cells from multiple placental biopsies for the accurate diagnosis of trisomy mosaicism. Copyright (c) 2009 John Wiley & Sons, Ltd.
Authors: Ryan Kc Yuen; Maria S Peñaherrera; Peter von Dadelszen; Deborah E McFadden; Wendy P Robinson Journal: Eur J Hum Genet Date: 2010-05-05 Impact factor: 4.246
Authors: Katherine Bianco; Matthew Gormley; Jason Farrell; Yan Zhou; Oliver Oliverio; Hannah Tilden; Michael McMaster; Susan J Fisher Journal: Prenat Diagn Date: 2016-07-25 Impact factor: 3.050
Authors: Courtney W Hanna; Maria S Peñaherrera; Heba Saadeh; Simon Andrews; Deborah E McFadden; Gavin Kelsey; Wendy P Robinson Journal: Genome Res Date: 2016-01-14 Impact factor: 9.043