Guideline and Consensus
A consensus on prenatal diagnosis and genetic counseling for chromosomal mosaicism
Lin Shaobin, Liu Weiqiang, Guo Li, Zhang Jun, Lu Jian, Chen Hanbiao, Wang Yousheng, Chen Yangyi, Shen Juntao, Wei Xiaoming, Zhu Huihui, Yin Aihua
Published 2022-08-10
Cite as Chin J Med Genet, 2022, 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.
Key words:
Chromosome; Mosaicism; Prenatal diagnosis; Genetic diagnosis; Genetic counseling
Contributor Information
Lin Shaobin
The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China
Liu Weiqiang
Longgang District Maternity &
Child Healthcare Hospital of Shenzhen City, Shenzhen, Guangdong 518172, China
Guo Li
Guangdong Provincial Women and Children’s Health Care Hospital, Guangzhou, Guangdong 511400, China
Zhang Jun
The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510630, China
Lu Jian
Guangdong Provincial Women and Children’s Health Care Hospital, Guangzhou, Guangdong 511400, China
Chen Hanbiao
Guangdong Provincial Women and Children’s Health Care Hospital, Guangzhou, Guangdong 511400, China
Wang Yousheng
Guangdong Provincial Women and Children’s Health Care Hospital, Guangzhou, Guangdong 511400, China
Chen Yangyi
CapitalBio Genomics Co., Ltd., Dongguan, Guangdong 523808, China
Shen Juntao
Thermo Fisher Scientific Inc., Shanghai 201206, China
Wei Xiaoming
BGI Genomics, BGI-Shenzhen, Shenzhen, Guangdong 518083, China
Zhu Huihui
Berry Genomics Corporation, Beijing 100015, China
Yin Aihua
Guangdong Provincial Women and Children’s Health Care Hospital, Guangzhou, Guangdong 511400, China
