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[关于染色体嵌合体产前诊断与遗传咨询的共识]

[A consensus on prenatal diagnosis and genetic counseling for chromosomal mosaicism].

作者信息

Lin Shaobin, Liu Weiqiang, Guo Li, Zhang Jun, Lu Jian, Chen Hanbiao, Wang Yousheng, Chen Yangyi, Shen Juntao, Wei Xiaoming, Zhu Huihui, Yin Aihua

机构信息

The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):797-802. doi: 10.3760/cma.j.cn511374-20210930-00794.

Abstract

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.

摘要

随着高灵敏度基因技术在产前诊断领域的广泛应用,临床中经常发现包括真正的胎儿嵌合体和局限性胎盘嵌合体在内的产前染色体嵌合体,而全国各地医疗中心对此类病例的诊断标准以及遗传咨询和临床管理原则可能存在显著差异。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,也会导致孕妇及其家庭成员的困惑和焦虑。对此,我们就染色体嵌合体的产前诊断和遗传咨询达成了一项共识,旨在促进产前诊所对胎儿染色体嵌合体进行更准确、合理的评估。

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