Dexeus Mujer has changed the way it screens for chromosomal abnormalities in the first trimester. All patients are now offered the option of a non-invasive test that analyses foetal DNA. This is one of the most accurate and reliable non-invasive prenatal screening tests (NIPT) on the market.

The screening programme is carried out around the 12th week of pregnancy and can detect the most common chromosomal abnormalities, such as trisomy 21 and trisomies 13 and 18, with a detection rate of between 98% and 99%.

For patients who wish to do so, other genetic abnormalities can be studied, such as abnormalities in the sex chromosomes, microdeletions/microduplications, or dominant monogenic variants, as it allows the study of CNVs from 3 Mb, it can detect more than 130 microdeletion/microduplication syndromes, including DiGeorge syndrome, which is the most common genetic disorder after Down syndrome (1/2000 births).

Finally, in addition to all the alterations mentioned above and the syndromes associated with microdeletion and microduplication, it also detects point mutations—up to 6,243 pathogenic variants—associated with more than 200 serious dominant monogenic pathologies and diseases, for which there is currently no other type of prenatal study.