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嵌合型唐氏综合征胎盘偶然发现的短暂异常髓系造血:一例诊断方法的病例报告

Incidentally Detected Transient Abnormal Myelopoeisis in a Placenta of Mosaic Down's Syndrome: A Case Report Describing Approach to Diagnosis.

作者信息

Chauhan Kriti, Lallar Meenakshi, Sharma Aastha

机构信息

Metropolis Lab Pvt. Ltd, Metropolis Health Care Ltd., Chandigarh, India.

Prime Diagnostics and Prenatal Imaging, Chandigarh, India.

出版信息

J Obstet Gynaecol India. 2025 Apr;75(2):170-175. doi: 10.1007/s13224-025-02107-7. Epub 2025 Mar 27.

DOI:10.1007/s13224-025-02107-7
PMID:40353271
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12064483/
Abstract

Examination of the placenta is the easiest and the most cost-effective method to evaluate fetal abnormalities which might be missed by other antenatal screening techniques. Transient abnormal myelopoeisis (TAM) in placenta is one such condition which is specific for trisomy 21. Its relevance especially lies in cases where phenotypical features of down's syndrome are absent in fetus or the cytogenetic reports are negative, suggesting either confined placental mosaicism or low expression generalized mosaicism. This is imperative in parents' counseling and deciding further patient management because though TAM is a transient phenomenon, it may relapse or progress to acute leukemia.

摘要

胎盘检查是评估胎儿异常的最简单且最具成本效益的方法,而其他产前筛查技术可能会遗漏这些异常情况。胎盘中的短暂异常髓系造血(TAM)就是这样一种特定于21三体综合征的情况。其相关性尤其体现在胎儿不存在唐氏综合征的表型特征或细胞遗传学报告为阴性的病例中,这表明存在局限于胎盘的嵌合体或低表达的全身性嵌合体。这对于向父母提供咨询以及决定进一步的患者管理至关重要,因为尽管TAM是一种短暂现象,但它可能会复发或进展为急性白血病。

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本文引用的文献

1
Early human trophoblast development: from morphology to function.早期人类滋养层的发育:从形态到功能。
Cell Mol Life Sci. 2022 Jun 5;79(6):345. doi: 10.1007/s00018-022-04377-0.
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Transient Abnormal Myelopoeisis and Mosaic Down Syndrome in a Phenotypically Normal Newborn.一名表型正常新生儿的短暂异常骨髓造血和嵌合型唐氏综合征
Children (Basel). 2020 May 28;7(6):52. doi: 10.3390/children7060052.
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Placental Pathology in Down Syndrome-Associated Transient Abnormal Myelopoiesis.唐氏综合征相关短暂性髓系造血异常的胎盘病理学。
Arch Pathol Lab Med. 2020 Mar;144(3):388-393. doi: 10.5858/arpa.2018-0248-RS. Epub 2019 Apr 10.