Fetal cardiac abnormalities: Genetic etiologies to be considered

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Cardiology

Background:

• Congenital heart diseases (CHDs) are frequent prenatal findings.
• Associated genetic syndromes and extracardiac anomalies are often identified alongside CHDs.
• These findings significantly impact diagnosis, prognosis, management, and recurrence risk assessment.

Purpose of the Study:

• To review common genetic diagnoses associated with prenatal CHDs.
• To outline a diagnostic process for these cases.
• To aid clinicians in understanding and managing complex prenatal cardiac findings.

Main Methods:

• This is a review article.
• It synthesizes information on genetic diagnoses linked to CHDs.
• It proposes a diagnostic pathway.

Main Results:

• Common genetic syndromes and extracardiac anomalies associated with CHDs are detailed.
• A structured diagnostic approach is suggested.
• The importance of genetic evaluation in CHD cases is highlighted.

Conclusions:

• Prenatal identification of CHD necessitates a comprehensive evaluation for genetic and extracardiac abnormalities.
• Such evaluations are crucial for accurate diagnosis, prognosis, and informed parental decision-making.
• A systematic diagnostic process improves patient care and familial risk assessment.