Prenatal genetic counseling: a comprehensive evaluation system centered on fetal phenotype
10.3760/cma.j.cn113903-20250114-00023
- VernacularTitle:产前遗传咨询需要基于以胎儿表型为核心的综合评价体系
- Author:
Jingmei MA
1
;
Huixia YANG
1
Author Information
1. 北京大学第一医院妇产生殖医学中心，北京 100034
- Publication Type:Journal Article
- Keywords:
Fetal phenotype;
Genetic counseling;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2025;28(2):102-104
- CountryChina
- Language:Chinese
-
Abstract:
A clinical diagnosis and treatment strategy centered on "fetal phenotype" is the most fundamental aspect of prenatal genetic counseling. This article discusses how typical phenotypes help in determining genetic testing strategies, familiar phenotypes aid in assessing prognosis risks, atypical phenotypes require careful selection of genetic testing platforms, and the interpretation of dynamically changing phenotypes necessitates integrating genetic reports of phenotypes. It emphasizes that clinicians should integrate fetal imaging phenotypes, the degree and changes in phenotypes, medical history, and family history to determine optimal genetic counseling.
