Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

Area of Science:

• Genetics
• Genomic Medicine

Background:

• Standard chromosome analysis has limitations in detecting smaller genomic alterations.
• Array comparative genomic hybridization (CGH microarray) provides a more comprehensive examination of the genome.
• The Medical Genetics Laboratory at Baylor College of Medicine introduced CGH microarray for postnatal diagnosis in 2004.

Observation:

• A prospective study evaluated the feasibility of prenatal CGH microarray by comparing it with standard karyotyping in 98 pregnancies.
• Prenatal CGH microarray testing became clinically available in 2005.
• Over 8000 clinical cases, including approximately 300 prenatal cases, have been analyzed since its introduction.

Findings:

• CGH microarray detects aneuploidies, microdeletion and microduplication disorders, and telomere rearrangements.
• The study demonstrated the clinical utility and feasibility of CGH microarray for both prenatal and postnatal genetic evaluations.
• Extensive clinical experience has been gained through analyzing over 8000 cases.

Implications:

• Implementing new genetic testing strategies requires careful consideration of patient education, result interpretation, and genetic counseling.
• Optimized strategies are crucial for maximizing benefits and minimizing risks associated with advanced genetic diagnostics.
• The experience highlights the importance of robust support systems for integrating novel genomic technologies into clinical practice.