Fetal and Genetic Aspects of Congenital Heart Disease

Abstract

Fetal cardiology includes the assessment of the fetal heart for congenital heart disease (CHD) and arrhythmias, the management of affected fetuses, including parental counselling for the therapeutic options, the planning of the delivery and the postnatal care. This requires a close collaboration between obstetricians, neonatologists and pediatric cardiologists. Because of restricted financial sources extensive fetal echocardiographic assessment is reserved for pregnancies with increased risk for CHD, which includes a family history of CHD, suspicion of a cardiac or extracardiac fetal abnormalities at obstetric routine ultrasonography, fetal arrhythmias and chromosomal anomalies. Since most CHD occur in pregnancies without increased risk an ultrasound screening of the fetal heart during routine pregnancy ultrasound is recommended. Most forms of CHD can potentially be detected in utero, especially the severe ones with considerable fetal and postnatal morbidity and mortality. The prenatal diagnosis of a major cardiac malformation requires further assessments for extracardiac and chromosomal disorders. The deliveries of patients with major cardiac anomalies in a tertiary obstetric center close to a pediatric cardiac facility allows optimal perinatal and postnatal management. This may be of crucial importance for cardiac malformations which are arterial duct dependent postnatally. Many CHD have genetic causes. Well established is the association of CHD and the trisomies 13, 18 and 21, as well as the monosomy XO (Turner syndrome). During the last years more and more molecular genetic causes for CHD could be demonstrated. The most significant one is the microdeletion 22q11 syndrome (CATCH 22 syndrome), which is associated with different conotruncal anomalies. Also for various other congenital cardiac malformations and syndromes a genetic cause could be demonstrated. The search for genetic cofactors is important as it affects parental counselling and patient care.