胎儿结构畸形中遗传学病因的产前诊断

Prenatal diagnosis of genetic etiology in fetal structural malformations

我国的出生缺陷中超过一半是结构畸形,遗传学异常是造成一些畸形的重要原因。胎儿超声筛查是目前产前筛查/诊断胎儿结构畸形的主要手段,高质量的遗传学诊断为正确的产前咨询和后续处理提供了依据。目前产前诊断的主要模式是超声形态学诊断结合遗传学病因诊断,这就要求相关从业人员应该加强学习,准确把握包括胎儿超声筛查和遗传学诊断的技术规范性,合理地综合应用这些技术,从而提高产前诊断率。

Genetic variation is an important cause of fetal structural abnormalities,which account for more than half of birth defects in China.Prenatal ultrasound examination is the main method to detect/diagnose fetal structural malformations,and accurate genetic diagnosis provides the basis for prenatal counseling and subsequent management for fetuses with ultrasound abnormalities.At present,ultrasound morphological diagnosis combined with genetic analysis is the main prenatal diagnostic strategy.Practitioners should strengthen the theoretical knowledge and accurately grasp the technical standards for fetal ultrasound screening and genetic diagnosis,which are critical to improve the efficiency of prenatal diagnosis in clinical practice.