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唐氏综合征相关暂时性骨髓增生异常伴严重胎儿水肿:病例报告。

Transient abnormal myelopoiesis associated with Down syndrome presenting as severe hydrops fetalis: a case report.

机构信息

School of Clinical and Experimental Medicine, University of Birmingham, Birmingham Women's Foundation Trust, Edgbaston, Birmingham, UK.

出版信息

Fetal Diagn Ther. 2010;27(3):171-3. doi: 10.1159/000284928. Epub 2010 Feb 16.

Abstract

We present a case of transient abnormal myelopoiesis (TAM) presenting as non-immune fetal hydrops (NIHF). Hydrops fetalis (HF) is a condition associated with very high perinatal mortality, especially when no treatable cause, such as fetal anaemia, exists. In fetuses prior to 24 weeks with NIHF, a chromosomal anomaly is a common association. TAM is a leukaemic condition, almost entirely limited to children with Down syndrome. The presentation of TAM prenatally is unusual but cases may present ultrasonographically with NIHF and associated fetal hepatosplenomegaly. We report a case presenting in this manner with NIHF detected at 29 weeks' gestation and discuss the subsequent diagnosis and management of in utero TAM.

摘要

我们报告了一例表现为非免疫性胎儿水肿(NIHF)的短暂性髓系异常(TAM)病例。胎儿水肿(HF)是一种与围产期死亡率非常高相关的疾病,尤其是当不存在可治疗的原因,如胎儿贫血时。在 NIHF 的 24 周前胎儿中,染色体异常是一种常见的关联。TAM 是一种白血病,几乎完全局限于唐氏综合征患儿。TAM 产前表现不常见,但病例可能在超声检查中表现为 NIHF 和相关的胎儿肝脾肿大。我们报告了一例以这种方式表现的病例,在 29 周妊娠时发现 NIHF,并讨论了宫内 TAM 的随后诊断和治疗。

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