[A consensus on prenatal diagnosis and genetic counseling for chromosomal mosaicism].
[A consensus on prenatal diagnosis and genetic counseling for chromosomal mosaicism].
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DOI：
10.3760/cma.j.cn511374-20210930-00794
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发表时间：
2022-08-10
期刊：
影响因子：
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通讯作者：
Yin, Aihua
中科院分区：
文献类型：
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作者：
Lin, Shaobin;Liu, Weiqiang;Yin, Aihua
随着高度敏感的基因技术在产前诊断领域的广泛应用，包括真胎儿马赛克和限制性胎盘马赛克在内的产前染色体马赛克在临床环境中经常被发现，而针对这类病例的遗传咨询和临床处理的诊断标准和原则可能在全国各地的医疗保健中心之间存在很大差异。这不仅给实验室技术人员、遗传咨询师和胎儿医学医生带来了挑战，也会给孕妇及其家人带来困惑和焦虑。在这方面，我们就染色体嵌合体的产前诊断和遗传咨询达成了共识，旨在促进产前临床对胎儿染色体嵌合体的更准确、更合理的评估。
With the extensive application of highly sensitive genetic techniques in the field of prenatal diagnosis, prenatal chromosomal mosaicisms including true fetal mosaicisms and confined placental mosaicisms are frequently identified in clinical settings, and the diagnostic criteria and principle of genetic counseling and clinical management for such cases may vary significantly among healthcare centers across the country. This not only has brought challenges to laboratory technician, genetic counselor and fetal medicine doctor, but can also cause confusion and anxiety of the pregnant woman and their family members. In this regard, we have formulated a consensus over the prenatal diagnosis and genetic counseling for chromosomal mosaicisms with the aim to promote more accurate and rational evaluation for fetal chromosomal mosaicisms in prenatal clinics.