Array-CGH aimed at detecting gains and losses of genomic and chromosomal regions responsible for up to 124 genetic syndromes associated with intellectual disability and congenital alterations. Its powerful design, specifically aimed at prenatal diagnosis, decreases the diagnostic complexity and improves the resolution of conventional karyotypes up to 50 times in the critical regions of the syndromes studied.
NIMGenetics offers the possibility of QF-PCR(Quantitative Fluorescence Polymerase Chain Reaction) as a complementary test to KaryoNIM Prenatal, to rule out the presence of complete triploidies.
When is it recommended?*
At the very least, in the following situations:
- In cases of nonspecific ultrasound fetal anomaly, such as a high nuchal translucency, in which the presence of chromosomal aneuploidies or complete triploidy has been ruled out.
- In the presence of an echographic finding or a history suggestive of a specific genetic disorder or syndrome, characterized by the presence of deletions or duplications (within the sensitivity range of the technique).
- If there is an echographic suspicion of congenital heart disease, once the presence of chromosomal aneuploidies or complete triploidy has been ruled out.