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一名唐氏综合征胎儿因短暂性异常骨髓造血导致450波长吸光度差值升高,超声检查显示肝脾肿大。

Elevated delta OD 450 due to transient abnormal myelopoiesis in a Down syndrome fetus with hepatosplenomegaly on ultrasound.

作者信息

Mancuso Abigail, Rijhsinghani Asha

机构信息

Division of Perinatal Care, Department of Obstetrics and Gynecology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

出版信息

Prenat Diagn. 2014 Mar;34(3):299-301. doi: 10.1002/pd.4299. Epub 2014 Jan 13.

DOI:10.1002/pd.4299
PMID:24353262
Abstract

Transient abnormal myelopoiesis (TAM) is a relatively common finding in children with Down syndrome but has also been diagnosed prenatally, most often presenting with fetal hepatosplenomegaly. We report a case of TAM with hepatosplenomegaly found on ultrasound and associated with an increased amniotic fluid Δ OD 450 value. TAM is most commonly transient but can be associated with fatality and therefore should be considered in the differential diagnosis when fetal hepatosplenomegaly is found on ultrasound. Amniocentesis with chromosomal analysis and a Δ OD 450 may aid in diagnosing TAM and predicting the severity of the liver involvement.

摘要

短暂性异常髓系造血(TAM)在唐氏综合征患儿中是相对常见的表现,但也有产前诊断的病例,最常见的表现是胎儿肝脾肿大。我们报告1例经超声检查发现肝脾肿大且羊水ΔOD 450值升高的TAM病例。TAM大多是短暂性的,但也可能导致死亡,因此当超声检查发现胎儿肝脾肿大时,鉴别诊断应考虑TAM。羊水穿刺进行染色体分析及检测ΔOD 450可能有助于诊断TAM并预测肝脏受累的严重程度。

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