完全性葡萄胎的分子遗传学研究。
Molecular genetic studies of complete hydatidiform moles.
机构信息
Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, Australia.
出版信息
Transl Pediatr. 2015 Apr;4(2):181-8. doi: 10.3978/j.issn.2224-4336.2015.04.02.
Abstract
Complete hydatidiform moles (CHM) are abnormal pregnancies with no fetal development resulting from having two paternal genomes with no maternal contribution. It is important to distinguish CHM from partial hydatidiform moles, and non-molar abortuses, due to the increased risk of gestational trophoblastic neoplasia. We evaluated a series of products of conception (POC) (n=643) investigated by genome-wide microarray comparative genomic hybridisation (CGH) with the aim of refining our strategy for the identification of complete moles. Among 32 suspected molar pregnancies investigated by STR genotyping to supplement microarray CGH testing, we found 31.3% (10/32) CHM; all identified among 3.6% (10/272) early first trimester POC. We suggest that when using microarray CGH that genotyping using targeted STR analysis should be performed for all POC referrals to aid in the identification of CHM.
摘要
完全性葡萄胎（CHM）是一种异常妊娠，没有胎儿发育，是由于没有母体贡献的两个父系基因组引起的。由于妊娠滋养细胞肿瘤的风险增加，区分 CHM、部分性葡萄胎和非葡萄胎性流产非常重要。我们评估了一系列通过全基因组微阵列比较基因组杂交（CGH）研究的妊娠产物（POC）（n=643），旨在完善我们鉴定完全性葡萄胎的策略。在通过 STR 基因分型补充微阵列 CGH 检测以调查的 32 例疑似葡萄胎妊娠中，我们发现了 31.3%（10/32）的 CHM；均在 3.6%（10/272）的早期孕早期 POC 中发现。我们建议，在使用微阵列 CGH 时，应针对所有 POC 转介进行靶向 STR 分析的基因分型，以帮助鉴定 CHM。
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