Challenge in prenatal diagnosis of monogenic and microdeletion/microduplication disorders
10.3760/cma.j.cn113903-20210128-00087
- VernacularTitle:产前诊断胎儿单基因病及微缺失/微重复综合征的挑战
- Author:
Jingmei MA
;
Huixia YANG
- From:
Chinese Journal of Perinatal Medicine
2021;24(6):406-409
- CountryChina
- Language:Chinese
-
Abstract:
Along with the development of screening, diagnostic and therapeutic technologies, the spectrum of fetal abnormalities has been constantly expanded. This brings increasing challenges to the clinical diagnosis and treatment, including but not limited to optimizing multidisciplinary cooperation, options of prenatal genetic testing methods, the uncertainty in the transition period of new technology implementation, and the comprehensiveness of genetic counseling before and after testing. We discuss the above issues aiming to meet the dilemma and achieve the leap of fetal medicine to the advanced level through multidisciplinary collaboration resulting in the improvement of diagnosis and treatment efficiency.
