Kalousek D K, Barrett I J, Gärtner A B
Department of Pathology, University of British Columbia, Vancouver, Canada.
Hum Genet. 1992 Mar;88(6):642-6. doi: 10.1007/BF02265289.
Confined placental chorionic mosaicism is reported in 2% of viable pregnancies cytogenetically analyzed on chorionic villi samplings (CVS) at 9-12 weeks of gestation. In follow-up studies this mosaicism has been shown to be associated with increased frequency of second and third trimester pregnancy loss or intrauterine fetal growth retardation. We have studied 54 spontaneous abortions (SA) for the detection of confined placental mosaicism and found 11 of them to be mosaic. All mosaic cases were identified among first trimester spontaneous abortions, and the mosaicism was confined to specific placental or embryonic/fetal cell lineages. These results indicate that the previously reported mosaicism in SA represents both confined and generalized types of mosaicism and that its accepted frequency of 5%-10% in SA will likely be higher. Over the whole gestational period, the confined placental mosaicism is more common than the reported rate of 1%-2% seen in viable pregnancies at CVS, and a higher proportion of pregnancy complications than previously suspected may be associated with confined placental mosaicism.
据报道，在妊娠9至12周时对绒毛取样（CVS）进行细胞遗传学分析的活产妊娠中，2%存在局限性胎盘绒毛膜镶嵌现象。在后续研究中，这种镶嵌现象已被证明与孕中期和孕晚期流产频率增加或宫内胎儿生长受限有关。我们研究了54例自然流产（SA）以检测局限性胎盘镶嵌现象，发现其中11例为镶嵌型。所有镶嵌病例均在孕早期自然流产中发现，且镶嵌现象局限于特定的胎盘或胚胎/胎儿细胞系。这些结果表明，先前报道的自然流产中的镶嵌现象既包括局限性镶嵌型，也包括全身性镶嵌型，并且其在自然流产中公认的5%-10%的发生率可能更高。在整个妊娠期，局限性胎盘镶嵌现象比在CVS检查的活产妊娠中报道的1%-2%的发生率更为常见，并且可能有比先前怀疑的更高比例的妊娠并发症与局限性胎盘镶嵌现象有关。
