Issues arising from the prenatal diagnosis of some rare trisomy mosaics -: the importance of cryptic fetal mosaicism
Issues arising from the prenatal diagnosis of some rare trisomy mosaics -: the importance of cryptic fetal mosaicism
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DOI：
10.1002/pd.936
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发表时间：
2004-07-01
影响因子：
3
通讯作者：
Adès, L
中科院分区：
文献类型：
--
作者：
Daniel, A;Wu, ZH;Adès, L
目的提高对产前诊断发现的罕见三体中胎儿嵌合体、限制性胎盘嵌合体(CPM)和单亲二体(UPD)的认识。方法对11例罕见三体嵌合体进行染色体核型分析和微卫星遗传分析。结果罕见三体中3例为嵌合体16，其中2例为CPM，其余2例为8、9、10、11、12、14、5和15嵌合体。4例在亲代来源、减数分裂起源与合子后起源上存在差异，但无1例涉及UPD。有3例(5、7、11)隐匿性胎儿嵌合体存在，涉及H、14和16号染色体。结论这些病例进一步证实了罕见三体的相关表型及其对CPM、UPD和胎儿嵌合体表型的影响。从稀少的已发表数据中，我们估计，在罕见的三体(即非整倍体CVS，正常羊水细胞)中，大约10%的明显CPM病例实际上可能是在培养的羊水细胞中未检测到的隐匿的胎儿马赛克。在许多情况下，这种隐秘的嵌合体可能具有有限的临床意义，但在其他情况下，相关的表型效应可能是明显的。目前还没有通用的方法来解决这个问题；即使在不同的羊水细胞培养血管中发现一些相似的非整倍体细胞，也可能具有临床意义。用FISH和相关着丝粒探针研究这样的羊膜细胞培养可能是有用的。建议仔细随访，特别是对于出现常染色体三体明显纠正的婴儿。版权所有(C)2004 John Wiley Sons，Ltd.
Objectives To add to the knowledge of fetal mosaicism, confined placental mosaicism (CPM), and uniparental disomy (UPD), in rare trisomies detected at prenatal diagnosis.Methods The origin of rare trisomy mosaics, mostly (8/11) seen in amniocytes, was examined in 11 cases by follow-up karyotyping and the study of microsatellite inheritance.Results Of the rare trisomies presented, three were mosaic trisomy 16 (two of which were CPM), and the remainder comprised single cases of mosaic trisomies of 8, 9, 10, 11, 12, 14, 5 and 15-the last two being CPM. Cases varied in parental derivation and meiotic versus post-zygotic origin but no case involved UPD. There was evidence for cryptic fetal mosaicism in three cases (5, 7, 11)-involving chromosomes H, 14 and 16.Conclusions These cases contribute further data to phenotypes associated with rare trisomies and the relative influences on the phenotype of CPM, UPD and fetal mosaicism. From sparse published data, we estimate that similar to10% of apparent CPM cases for a rare trisomy (i.e. aneuploid CVS, normal amniocytes) may actually be cryptic fetal mosaics undetected in cultured amniocytes. In many cases, this cryptic mosaicism may be of limited clinical significance, but in others, the associated phenotypic effects may be obvious. There is no general approach to resolve this issue; the finding of even a few similar aneuploid cells in different amniocyte culture vessels may be clinically significant. It may be useful to study such an amniocyte culture with FISH with the relevant centromeric probe. Careful follow-up is recommended, particularly for infants where apparent correction of autosomal trisomy has occurred. Copyright (C) 2004 John Wiley Sons, Ltd.