Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection...

Area of Science:

• Genomics
• Prenatal Diagnostics
• Medical Genetics

Background:

• Genomic technologies are advancing, necessitating understanding of prenatal testing.
• Chromosomal microarray analysis (CMA) and exome sequencing (ES) are crucial complementary tools.

Purpose of the Study:

• To review the technical principles of CMA and ES.
• To compare their diagnostic capabilities and limitations in prenatal testing.

Main Methods:

• Narrative literature review.
• Manual screening of reference lists from key publications.

Main Results:

• CMA is increasingly standard for fetal structural anomalies; ES is used for selected cases.
• Interpretation of variants of uncertain significance and incidental findings poses challenges.
• Agnostic gene selection in ES shows higher diagnostic yield than phenotype-driven approaches.

Conclusions:

• Refining clinical indications, bioinformatics, and variant classification is critical for accurate prenatal genomic results.
• Improvements in technology, interpretation, and clinical integration can enhance prenatal genomics.
• Ongoing advancements aim for more precise, informed, and ethically responsible prenatal genetic testing.