Chromosomopathy is a change in the structure or number of chromosomes that can cause various clinical consequences. Numerical chromosomal abnormalities can be polyploidies or aneuploidies, involving the loss or gain of a single chromosome. Identifying these abnormalities is crucial for preventive strategies, genetic counselling, and appropriate treatment. The most common test offered is the combined first trimester screening. It includes detailed ultrasound to measure the crown-rump length and nuchal translucency of the fetus between the 11th and 13th weeks of gestation, combined with serum screening of free beta-human chorionic gonadotropin (βhCG) and pregnancy-associated plasma protein A (PAPP-A) between the 8th and 13th weeks of gestation. Although early combined screening has a detection rate of 90 %, the main issue is the relatively high rate of false positive results, where 1 out of 20 (5 %) patients would be unnecessarily concerned. With the emergence of non-invasive prenatal testing (NIPT), it is very likely that it will replace traditional early screening, and some countries have already incorporated it into their national screening programs. This technique analyses cell-free DNA fragments across the whole genome to identify chromosomal abnormalities such as Patau (T13), Edwards (T18), and Down syndrome (T21). Thanks to the advancement of massive parallel sequencing, NIPT has significantly reduced the use of invasive methods such as amniocentesis and chorionic villus sampling and will probably become a key screening test due to its simplicity, non-invasiveness, and low risk. However, these tests are often performed without adequate genetic counselling and are sometimes wrongly interpreted as diagnostic tests, when in fact they are screening tests. Nonetheless, the introduction of non-invasive prenatal testing represents a significant advancement in the identification of chromosomal abnormalities, enabling more precise diagnosis and improving care for pregnant women and their unborn children.