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胎儿水肿和贫血是唐氏综合征的征象。

Fetal hydrops and anemia as signs of Down syndrome.

机构信息

Ankara University, Faculty of Medicine, Obstetrics and Gynecology Department, Ankara Universitesi Tip Fakultesi, Cebeci Hastanesi, Kadin Hastaliklari ve Dogum A.D., Dikimevi, Ankara, Turkey.

出版信息

J Formos Med Assoc. 2011 Nov;110(11):716-8. doi: 10.1016/j.jfma.2011.09.009. Epub 2011 Oct 19.

DOI:10.1016/j.jfma.2011.09.009
PMID:22118317
Abstract

Before the 20th week of gestation, the most common cause of nonimmune hydrops fetalis is chromosomal abnormalities. Herein, we report a case of fetal hydrops, anemia, and intrauterine growth retardation that presented at 27 weeks of gestation with a negative chromosomal abnormality screening. Cordocentesis and karyotype analysis revealed fetal pancytopenia and Down syndrome. Down syndrome rarely presents with fetal hydrops and anemia. Therefore, when hydrops and anemia are diagnosed, especially in the second trimester of gestation, the possibility of Down syndrome should be kept in mind. In addition, if the pregnancy results in a live birth, the baby should be examined for transient abnormal myelopoiesis.

摘要

在妊娠 20 周之前,非免疫性胎儿水肿最常见的原因是染色体异常。在此,我们报告一例 27 周妊娠时出现胎儿水肿、贫血和宫内生长受限的病例,其染色体异常筛查结果为阴性。脐带穿刺和核型分析显示胎儿全血细胞减少和唐氏综合征。唐氏综合征很少出现胎儿水肿和贫血。因此,当诊断出胎儿水肿和贫血时,特别是在妊娠中期,应考虑唐氏综合征的可能性。此外,如果妊娠导致活产,应检查婴儿是否存在短暂性骨髓异常增生。

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Fetal hydrops and anemia as signs of Down syndrome.胎儿水肿和贫血是唐氏综合征的征象。
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Transient abnormal myelopoiesis associated with Down syndrome presenting as severe hydrops fetalis: a case report.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。
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Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.美国母胎医学会(SMFM)临床指南 #7:非免疫性胎儿水肿。
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Cordocentesis for rapid karyotyping.用于快速核型分析的脐带穿刺术。
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Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion.罕见的胎儿贫血病例,病因是线粒体疾病,通过宫内输血进行治疗。
Medicina (Kaunas). 2022 Feb 22;58(3):328. doi: 10.3390/medicina58030328.

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