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三倍体对人类早期发育的影响。

Effects of triploidy on early human development.

作者信息

Philipp T, Grillenberger K, Separovic E R, Philipp K, Kalousek D K

机构信息

Ludwig Boltzmann Institute of Clinical Gynecology and Obstetrics, Danube Hospital, Langobardenstrasse, Vienna, Austria.

出版信息

Prenat Diagn. 2004 Apr;24(4):276-81. doi: 10.1002/pd.789.

Abstract

OBJECTIVE

The morphologic features of 18 triploid embryos are described.

METHOD

Embryoscopic examination of the embryo in cases of missed abortion before instrumental evacuation from the uterus. Cytogenetic and histologic analysis of the chorionic villi.

RESULTS

Seventeen out of 18 triploid embryos showed structural defects on embryoscopic examination. The most common defects were facial anomalies (n = 15), limb abnormalities (n = 13), microcephaly (n = 11) and neural tube defects (n = 10); 3 embryos were classified as growth disorganized. Placenta of 12 grossly abnormal embryos was diagnosed as partial hydatidiform moles on histological examination.

CONCLUSIONS

The grossly abnormal development of the embryo observed in 12 partial hydatidiform moles indicate that, in aborted triploid embryos, the presence of two paternal genomes might have both placental and embryonic consequences. Transcervical embryoscopy in cases of missed abortion can serve as a central component in additional studies using molecular determination of parental origin of triploidy to establish the true proportion of diandric triploidy among grossly abnormal triploid embryos.

摘要

目的

描述18个三倍体胚胎的形态学特征。

方法

对子宫器械清宫术前稽留流产病例的胚胎进行胚胎镜检查。对绒毛进行细胞遗传学和组织学分析。

结果

18个三倍体胚胎中有17个在胚胎镜检查时显示结构缺陷。最常见的缺陷是面部异常(n = 15)、肢体异常(n = 13)、小头畸形(n = 11)和神经管缺陷(n = 10);3个胚胎被归类为生长紊乱。12个严重异常胚胎的胎盘在组织学检查中被诊断为部分性葡萄胎。

结论

在12例部分性葡萄胎中观察到的胚胎严重异常发育表明,在流产的三倍体胚胎中,两个父本基因组的存在可能对胎盘和胚胎都有影响。稽留流产病例中的经宫颈胚胎镜检查可作为进一步研究的核心组成部分,这些研究利用三倍体亲本来源的分子测定来确定严重异常三倍体胚胎中二雄三倍体的真实比例。

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