A consensus on prenatal diagnosis and genetic counseling for chromosomal mosaicism.
10.3760/cma.j.cn511374-20210930-00794
- Author:
Shaobin LIN
1
;
Weiqiang LIU
;
Li GUO
;
Jun ZHANG
;
Jian LU
;
Hanbiao CHEN
;
Yousheng WANG
;
Yangyi CHEN
;
Juntao SHEN
;
Xiaoming WEI
;
Huihui ZHU
;
Aihua YIN
Author Information
1. The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China. yinaiwa@vip.126.com.
- Publication Type:Journal Article
- MeSH:
Consensus;
Female;
Genetic Counseling;
Humans;
Mosaicism;
Placenta;
Pregnancy;
Prenatal Diagnosis/methods*
- From:
Chinese Journal of Medical Genetics
2022;39(8):797-802
- CountryChina
- Language:Chinese
-
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.