遗传评估在先天性心脏病产前诊断和管理中不断发展的作用。

IF 2.4 4区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Journal of Cardiovascular Development and Disease Pub Date : 2024-05-30 DOI:10.3390/jcdd11060170
Emily M Bucholz, Sarah U Morton, Erin Madriago, Amy E Roberts, Christina Ronai
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引用次数: 0

摘要

产前诊断先天性心脏病(CHD)的情况越来越多,筛查和诊断先天性心脏病遗传因素的能力也大大提高。在产前诊断出先天性心脏病的情况下,遗传异常的存在会影响产前咨询,并确保家属和医疗服务提供者尽可能多地了解围产期管理和未来预期。本综述将讨论出生前可进行的遗传评估、有哪些不同的遗传检测方法,以及在诊断出各种 CHD 时应考虑的问题。
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The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease.

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.

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来源期刊
Journal of Cardiovascular Development and Disease
Journal of Cardiovascular Development and Disease CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
2.60
自引率
12.50%
发文量
381
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