Aneuploidy Analysis (NGS)

Aneuploidy Analysis by Next-Generation Sequencing (NGS) in prenatal diagnosis is a highly accurate method to detect chromosomal abnormalities in a developing fetus. The test involves extracting DNA from prenatal samples such as amniotic fluid, chorionic villus sampling (CVS), or maternal blood (for non-invasive testing). NGS sequences millions of DNA fragments, allowing precise determination of the number of copies for each chromosome.
Provide early genetic information to support clinical decisions, pregnancy management, and family planning.

Advantages:

High sensitivity and accuracy compared to traditional karyotyping.

Can detect both whole-chromosome and partial-chromosome abnormalities.

Requires only a small DNA sample, with faster results than conventional methods.
Limitations:
Cannot identify balanced chromosomal rearrangements.
Low-level mosaicism may not always be detected.