Trisomy 16 mimicking hydatidiform mole.

IF 0.5 Q4 OBSTETRICS & GYNECOLOGY Ceska Gynekologie-Czech Gynaecology Pub Date : 2024-01-01 DOI:10.48095/cccg2024396
Lajos Gergely, Miroslav Korbeľ, Ľudovít Danihel, Vanda Repiská, Miroslav Tomka, Liam McCullough, Petra Priščáková
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引用次数: 0

Abstract

The authors present a case of 1st trimester miscarriage where an early, complete hydatidiform mole was clinically suspected. Histopathological and immunohistochemical analyses excluded a complete mole, but the histomorphological profile was in concordance with a partial hydatidiform mole. Genetic analysis excluded a partial mole based on biparental genome composition, where further genetic analyses detected trisomy of chromosome 16. Trisomy of chromosome 16 is a frequent cause of 1st trimester abortions and may lead to highly abnormal placental histomorphology mimicking a partial mole. Genetic analyses are crucial for proper differential diagnosis and for the determination of adequate follow-up and prognosis for further pregnancies.

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模仿水滴形痣的 16 三体综合征。
作者介绍了一例临床上怀疑为早期完全水滴形痣的怀孕三个月流产病例。组织病理学和免疫组化分析排除了完全痣,但组织形态学特征与部分水滴形痣相符。遗传分析根据双亲基因组的组成排除了部分水滴形痣,进一步的遗传分析发现了 16 号染色体三体综合征。16 号染色体三体综合征是第一胎流产的常见原因,可能导致胎盘组织形态学高度异常,与部分水滴形痣相似。遗传学分析对于正确的鉴别诊断以及确定适当的后续治疗和进一步妊娠的预后至关重要。
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来源期刊
Ceska Gynekologie-Czech Gynaecology
Ceska Gynekologie-Czech Gynaecology OBSTETRICS & GYNECOLOGY-
CiteScore
0.60
自引率
25.00%
发文量
57
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