Читать книгу Protocols for High-Risk Pregnancies - Группа авторов - Страница 61

When a cardiac anomaly is found, a full detailed fetal scan to detect any other extracardiac anomalies is mandatory. Many fetal syndromes include cardiac anomalies, and accurate counseling requires complete enumeration of associated anomalies. Fetal karyotype testing should be offered to the parents, as chromosome abnormalities are seen in a large segment of fetuses with congenital heart disease. Additional testing for a microdeletion of chromosome 22q11 can be helpful in fetuses with conotruncal malformations (e.g., tetralogy of Fallot, truncus arteriosus). As for all fetal anomalies, microarray testing for microdeletions and microduplications has also become routine. In selected cases specific gene sequencing or even whole exome or genome sequencing is indicated.

Overall survival once a cardiac lesion is found depends on the nature of the cardiac problem, the presence of extracardiac anomalies, the karyotype, and the presence of fetal hydrops. Fetal hydrops in association with structural heart disease is virtually universally fatal. Aneuploid fetuses may have dismal prognoses even in the absence of heart disease; for example, fetal trisomy 18 may make repairing even a straightforward ventricular septal defect inadvisable.

Lesions that can be repaired into a biventricular heart carry a better long‐term prognosis than those that result in a univentricular heart. In general, infants known to have congenital heart disease prenatally do better than those whose cardiac defects are only found after birth.