The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease

被引：0

作者：

Bucholz, Emily M. ^{[1
]}

Morton, Sarah U. ^{[2
]}

Madriago, Erin ^{[3
]}

Roberts, Amy E. ^{[4
]}

Ronai, Christina ^{[4
]}

机构：

[1] Univ Colorado, Dept Pediat, Sect Cardiol, Denver, CO 80204 USA

[2] Harvard Med Sch, Boston Childrens Hosp, Dept Pediat, Div Newborn Med, Boston, MA 02115 USA

[3] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97239 USA

[4] Harvard Med Sch, Boston Childrens Hosp, Dept Cardiol, Dept Pediat, Boston, MA 02115 USA

来源：

JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE | 2024年 / 11卷 / 06期

关键词：

genetic testing; prenatal diagnosis; perinatal counseling; congenital heart disease; STATEMENT; DEFECTS; ASSOCIATIONS; MICROARRAY; ANOMALIES; KNOWLEDGE; CHILDREN; INFANTS; PARENTS; UTILITY;

D O I：

10.3390/jcdd11060170

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：11

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