先天性心脏缺陷与遗传和形态学异常之间的关联。产前筛查的重要性。

Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening.

作者信息

Pavlicek Jan, Gruszka Tomas, Kapralova Sabina, Prochazka Martin, Silhanova Eva, Kaniova Romana, Polanska Slavka, Cernickova Renata, Klaskova Eva

机构信息

Department of Pediatrics and Prenatal Cardiology, University Hospital Ostrava, Czech Republic.

Department of Pediatrics, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic.

出版信息

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019 Feb;163(1):67-74. doi: 10.5507/bp.2018.049. Epub 2018 Sep 6.

DOI:10.5507/bp.2018.049

PMID:30198518

Abstract

AIM

To study congenital heart defects (CHDs), evaluate their relation to extra-cardiac pathologies, and assess the significance of prenatal diagnostics for heart diseases.

METHODS

Data from 1999-2017 were analyzed for the incidence of significant CHDs in fetuses (prenatal ultrasound/echocardiography) and children, including, where applicable, autopsy data and genetic evaluation.

RESULTS

Among 220,400 fetuses, 819 (3.7 cases per 1000) significant CHDs were observed. Of the total, 53% (435/819) of CHDs were diagnosed prenatally. The heart defect was an isolated impairment in 78% (640/819), associated with a genetic impairment in 16% (128/819), and with extra-cardiac malformations without genetic pathology in 6% (51/819). Chromosomal aberrations were diagnosed prenatally in 70% (90/128) of those affected and extra-cardiac conditions in 86% (44/51). The CHD and genetic pathology association was more frequent prenatally [21% (90/435) vs. postnatally: 10% (38/384; P<0.0001)], as was the association between CHD with other extra-cardiac pathology and a normal karyotype [prenatally: 10% (44/435) vs. postnatally: 2% (7/384; P<0.0001)].

CONCLUSION

Heart defects are most frequently isolated, with genetic and other extra-cardiac anomalies in about one third of cases, significantly linked to prenatal diagnostics.

摘要

目的

研究先天性心脏病（CHD），评估其与心脏外病变的关系，并评估产前诊断对心脏病的意义。

方法

分析1999年至2017年胎儿（产前超声/超声心动图）和儿童中重大CHD的发病率，包括适用时的尸检数据和基因评估。

结果

在220,400例胎儿中，观察到819例（每1000例中有3.7例）重大CHD。其中，53%（435/819）的CHD在产前被诊断出。心脏缺陷为孤立性损害的占78%（640/819），与基因损害相关的占16%（128/819），与无基因病变的心脏外畸形相关的占6%（51/819）。在受影响的病例中，70%（90/128）在产前被诊断出染色体畸变，86%（44/51）被诊断出心脏外疾病。CHD与基因病理的关联在产前更常见[21%（90/435）对产后：10%（38/384；P<0.0001）]，CHD与其他心脏外病理及正常核型之间的关联也是如此[产前：10%（44/435）对产后：2%（7/384；P<0.0001）]。