Triploid pregnancy–Clinical implications,Clinical Genetics

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Triploid pregnancy–Clinical implications
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-05-25 , DOI: 10.1111/cge.14003
Diana Massalska ₁ , Julia Bijok ₁ , Anna Kucińska-Chahwan ₁ , Janusz Grzegorz Zimowski ₂ , Katarzyna Ozdarska ₂ , Grzegorz Panek ₁ , Tomasz Roszkowski ₁

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Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%–2% of all conceptions. The majority of cases is miscarried at early developmental stages. In consequence of genomic imprinting, parental origin affects the phenotype of triploid pregnancies as well as the prevalence and spectrum of related maternal complications. Distinctive ultrasound features of both triploid phenotypes as well as characteristic patterns of biochemical markers may be useful in diagnosis. Molecular confirmation of the parental origin allows to predict the risk of complications, such as gestational trophoblastic neoplasia, hyperthyroidism, hypertension, or preeclampsia associated with the paternal origin of triploidy. Diagnosis of partial hydatidiform mole associated with diandric triploidy is challenging especially in the first trimester pregnancy loss due to the limitations of both histopathology and ultrasound. We present important clinical aspects of triploid pregnancies and indicate unresolved issues demanding further studies.

中文翻译：

三倍体妊娠——临床意义

三倍体是一种限制生命的遗传畸变，由一组额外的父系（双雄三倍体）或母系染色体单倍体（双倍体三倍体）引起。三倍体影响大约 1%–2% 的受孕。大多数病例在早期发育阶段流产。由于基因组印记，父母来源会影响三倍体妊娠的表型以及相关母体并发症的发生率和谱。三倍体表型的独特超声特征以及生化标志物的特征模式可能有助于诊断。父母来源的分子确认可以预测并发症的风险，例如妊娠滋养细胞肿瘤、甲状腺功能亢进、高血压或与父系三倍体相关的先兆子痫。由于组织病理学和超声检查的限制，诊断与三倍体相关的部分葡萄胎具有挑战性，尤其是在妊娠早期流产中。我们介绍了三倍体妊娠的重要临床方面，并指出需要进一步研究的未解决问题。

更新日期：2021-05-25

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