The use of chromosomal microarray for prenatal diagnosis

Area of Science:

• Genetics
• Genomics
• Cytogenetics

Background:

• Chromosomal microarray analysis (CMA) is a high-resolution genomic technique.
• It identifies submicroscopic deletions and duplications (copy number variants) beyond conventional karyotyping.
• CMA offers enhanced resolution, detecting abnormalities down to 50-100 kb.

Purpose of the Study:

• To discuss the technique, advantages, and disadvantages of CMA.
• To outline the indications and limitations of CMA in genetic analysis.
• To provide recommendations for the use of CMA in clinical practice.

Main Methods:

• Review of chromosomal microarray analysis technique.
• Discussion of comparative resolution with conventional karyotyping.
• Analysis of indications, limitations, and recommendations for CMA use.

Main Results:

• CMA detects smaller deletions/duplications than karyotyping.
• Recommendations support CMA for fetal anomalies and stillbirths, replacing karyotyping.
• Guidelines emphasize pre/post-test genetic counseling and patient education on CMA limitations.

Conclusions:

• CMA is a valuable tool for identifying chromosomal abnormalities with high resolution.
• Informed patient choice and expert genetic counseling are essential for CMA implementation.
• CMA does not detect all genetic disorders, such as single-gene mutations, but can reveal consanguinity and nonpaternity.