Department of Medical Genetics, University of British Columbia, 950 W. 28th Avenue, Vancouver, BC, Canada.
Prenat Diagn. 2010 Jan;30(1):1-8. doi: 10.1002/pd.2409.
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.
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.
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.
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.
产前诊断的局限性胎盘三体与宫内生长受限(IUGR)和子痫前期的风险增加有关。然而,目前尚不清楚这种情况在多大程度上可能导致妊娠并发症。我们的目的是评估在因 IUGR 和/或子痫前期而确定的胎盘组织中,三体细胞的频率和分布。
应用比较基因组杂交技术对 61 例因母体子痫前期和/或 IUGR、11 例母体血清 hCG 和/或 AFP 升高但无 IUGR 或子痫前期的胎盘、85 例对照胎盘的每例胎盘的 2 个未培养的活检组织进行分析。
在 IUGR 组(N=43)的 4 例胎盘和无 IUGR 的子痫前期病例(N=18)中观察到三体。在因异常母体血清筛查而确定的 11 例病例中观察到三体。这 5 例均为嵌合体,并非所有取样部位均存在三体。84 例对照胎盘均未出现嵌合体三体,尽管在该组中发现了 1 例非嵌合体 47,XXX。
在因 IUGR 病因诊断可能有一定益处的情况下,应使用来自多个胎盘活检的未培养细胞进行检测,以准确诊断三体嵌合体。