PDF(Pubmed)
Abstract：
Congenital heart disease (CHD) is increasingly diagnosed prenatally and the ability to screen and diagnose the genetic factors involved in CHD have greatly improved. The presence of a genetic abnormality in the setting of prenatally diagnosed CHD impacts prenatal counseling and ensures that families and providers have as much information as possible surrounding perinatal management and what to expect in the future. This review will discuss the genetic evaluation that can occur prior to birth, what different genetic testing methods are available, and what to think about in the setting of various CHD diagnoses.
摘要：
先天性心脏病（CHD）在产前诊断越来越多，筛查和诊断与CHD有关的遗传因素的能力大大提高。产前诊断的CHD环境中遗传异常的存在会影响产前咨询，并确保家庭和提供者拥有尽可能多的围产期管理信息以及未来的期望。这篇综述将讨论出生前可能发生的遗传评估，有哪些不同的基因检测方法，以及在各种冠心病诊断的背景下应该考虑什么。
