Genetics of gestational trophoblastic disease
Genetics of gestational trophoblastic disease
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DOI：
10.1016/j.bpobgyn.2021.01.004
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发表时间：
2021-07-13
影响因子：
5.5
通讯作者：
Maher, Geoffrey J.
中科院分区：
文献类型：
--
作者：
Fisher, Rosemary A.;Maher, Geoffrey J.
不正常妊娠完全和部分的葡萄胎是遗传不寻常的，与父亲的基因组的两个副本。典型的完全性葡萄胎（CHM）是二倍体和雄核发育的，而部分性葡萄胎（PHM）是二倍体和三倍体。虽然通常可以根据形态学进行诊断，但可以使用利用其不寻常遗传来源的辅助技术来促进诊断。基因分型和p57免疫染色现在常规用于完全性和部分性葡萄胎的鉴别诊断，用于研究不寻常的镶嵌或嵌合产物的概念与摩尔组成部分，并确定罕见的二倍体，双亲HM与遗传易感性葡萄胎妊娠。基因分型在妊娠和非妊娠滋养细胞肿瘤的鉴别诊断以及妊娠肿瘤的病因诊断中也起着重要作用。最近的发展包括使用无细胞DNA对这些疾病进行非侵入性诊断。(c)2021爱思唯尔出版
The abnormal pregnancies complete and partial hydatidiform mole are genetically unusual, being associated with two copies of the paternal genome. Typical complete hydatidiform moles (CHMs) are diploid and androgenetic, while partial hydatidiform moles (PHMs) are diandric triploids. While diagnosis can usually be made on the basis of morphology, ancillary techniques that exploit their unusual genetic origin can be used to facilitate diagnosis. Genotyping and p57 immunostaining are now routinely used in the differential diagnosis of complete and partial hydatidiform moles, for investigating unusual mosaic or chimeric products of conception with a molar component and identifying the rare diploid, biparental HMs associated with an inherited predisposition to molar pregnancies. Genotyping also plays an important role in the differential diagnosis of gestational and non-gestational trophoblastic tumours and identification of the causative pregnancy where tumours are gestational. Recent developments include the use of cell-free DNA for non-invasive diagnosis of these conditions. (c) 2021 Published by Elsevier Ltd.