Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Area of Science:

• Genetics
• Bioinformatics

Background:

• Chromosomal aneuploidy is a major cause of genetic disorders.
• Current diagnostic methods like karyotyping and CMA are costly and time-consuming.
• Exome sequencing (ES) bioinformatics advancements allow aneuploidy detection alongside variant analysis.

Purpose of the Study:

• To evaluate the effectiveness of clinical exome sequencing for detecting chromosomal aneuploidies.
• To compare ES-based aneuploidy detection with established clinical testing methods.

Main Methods:

• Analysis of exome sequencing data from a clinical cohort (n=10,000) between 2023-2024.
• Inclusion of samples with known aneuploidies: Trisomy 21 (n=27), Trisomy 18 (n=4), Turner syndrome (n=3), and Klinefelter syndrome (n=2).

Main Results:

• Exome sequencing detected chromosomal aneuploidies with results concordant to clinical testing.
• Identified copy number variants (CNVs) aligned with results from standard clinical diagnostics.

Conclusions:

• Exome sequencing is a viable and rapid method for detecting chromosomal aneuploidies.
• ES has the potential to decrease diagnostic turnaround times and reduce healthcare costs for genetic disorder testing.