染色体嵌合体的产前诊断与遗传咨询共识  

A consensus on prenatal diagnosis and genetic counseling for chromosomal mosaicism

作　　者：林少宾[1] 刘维强 郭莉[3] 章钧[4] 卢建[3] 陈汉彪[3] 王游声[3] 陈样宜 沈均涛 魏晓明 朱慧慧 尹爱华[3] Lin Shaobin;Liu Weiqiang;Guo Li;Zhang Jun;Lu Jian;Chen Hanbiao;Wang Yousheng;Chen Yangyi;Shen Juntao;Wei Xiaoming;Zhu Huihui;Yin Aihua(The First Affiliated Hospital of Sun Yat-sen University,Guangzhou,Guangdong 510080,China;Longgang District Maternity&Child Healthcare Hospital of Shenzhen City,Shenzhen,Guangdong 518172,China;Guangdong Provincial Women and Children’s Health Care Hospital,Guangzhou,Guangdong 511400,China;The Third Affiliated Hospital of Sun Yat-sen University,Guangzhou,Guangdong 510630,China;CapitalBio Genomics Co.,Ltd.,Dongguan,Guangdong 523808,China;Thermo Fisher Scientific Inc.,Shanghai 201206,China;BGI Genomics,BGI-Shenzhen,Shenzhen,Guangdong 518083,China;Berry Genomics Corporation,Beijing 100015,China)

机构地区：[1]中山大学附属第一医院,广州510080 [2]深圳市龙岗区妇幼保健院,广东518172 [3]广东省妇幼保健院,广州511400 [4]中山大学附属第三医院,广州510630 [5]东莞博奥木华基因科技有限公司,广东523808 [6]赛默飞世尔科技(中国)有限公司,上海201206 [7]深圳华大基因股份有限公司,广东518083 [8]北京贝瑞和康生物技术有限公司,北京100015

出　　处：《中华医学遗传学杂志》2022年第8期797-802,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金 (82001564)。

摘　　要：随着高敏感性遗传学检测技术在产前诊断领域的广泛应用,产前染色体嵌合体的检出越来越普遍,其诊断标准、遗传咨询原则和临床处理方案在不同单位之间可能存在不同程度的差异。这不仅给实验室、产前咨询医师或胎儿医学医师的诊疗工作带来了挑战,而且也给孕妇及其亲属造成了焦虑与困扰。鉴于此,本组专家就染色体嵌合体的产前遗传学诊断与遗传咨询达成共识,以期建立标准化的诊疗规范,从而更好地指导临床诊疗工作。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.

关 键 词：染色体 嵌合体 产前诊断 遗传学诊断 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学]