[Genetic testing in the fetus and child]

Area of Science:

• Genomic Medicine
• Clinical Genetics
• Diagnostic Technologies

Context:

• Array-based molecular karyotyping and high-throughput sequencing are increasingly used in prenatal and postnatal diagnostics.
• Conventional microscopic karyotyping is being replaced by advanced genomic approaches.
• Non-invasive prenatal testing significantly reduces the need for invasive procedures.

Purpose:

• To review the impact of new genomic technologies on diagnostic strategies.
• To highlight advancements in diagnosing congenital malformations and intellectual disability.
• To discuss the role of next-generation sequencing in genetic disorder diagnosis.

Summary:

• Molecular karyotyping (e.g., Array-CGH) increases diagnostic yield for congenital anomalies and intellectual disability by 15-20%.
• Next-generation sequencing, including gene panels and whole-exome/genome sequencing, enhances diagnostic capabilities for genetically heterogeneous and novel disorders.
• Interpretation of copy number variants and genotype-phenotype correlations remain key challenges.

Impact:

• Improved diagnostic accuracy and earlier identification of genetic disorders.
• Enhanced clinical management and genetic counseling for affected families.
• Potential for identifying novel genetic disorders and refining existing ones.