➕ Sex chromosome abnormalities
This screening makes it possible to identify certain sex chromosome aneuploidies, including Turner syndrome (XO), the Klinefelter syndrome (XXY) or other chromosomal variations.
These conditions are not associated with major intellectual disability or severe physical malformations (except for an increased risk of cardiac abnormalities in the case of Turner syndrome). However, they can lead to:
- Infertility
- Physical characteristics (such as being bigger or smaller than average)
- Learning, language, social, or behavioral difficulties
[See the explanatory table for sex chromosome abnormalities]
➕ Microdeletions
Microdeletions are losses of small DNA fragments on a chromosome, which can lead to developmental disorders, learning delays, or certain other malformations.
Unlike trisomies, these conditions present a great deal of clinical variability: some people may live with a mild and low-symptomatic form, while others may have more significant manifestations.
Among the microdeletions that can be detected, we find in particular:
- DiGeorge syndrome (22q11.2)
- Prader-Willi syndrome
- Cat cry syndrome, etc.
➕ Aneuploidies on all 23 pairs of chromosomes
Some packages include expanded screening to include all of the chromosomes. This would make it possible to detect possible rarer trisomies or monosomies.