Fetal heart defects are among the most common congenital anomalies, but advancements in genetic testing are improving early detection and understanding of these conditions. Chromosomal microarray (CMA) and exome sequencing are two pivotal tests that can identify genetic abnormalities contributing to heart defects. CMA detects microdeletions and duplications in chromosomes, offering a broad overview of chromosomal health, while exome sequencing hones in on the coding regions of genes to identify specific mutations.
These genetic tests enable early detection, which is crucial for better prenatal care and planning. By identifying potential genetic causes of heart defects, healthcare providers can offer targeted care, prepare for necessary interventions at birth, and provide families with essential information about the prognosis and management options. Early intervention can significantly improve outcomes, giving parents a clearer understanding of their child’s condition and potential needs.
If you have concerns about fetal heart health, consult with our specialists about genetic testing options to ensure early detection and comprehensive care.