Chromosome mosaicism

Chromosome mosaicism is a rare genetic condition that involves imbalanced chromosomes within the body, with some cells displaying different chromosomal numbers and characteristics than others. It can lead to autosomal abnormalities and fetal pathologies including Trisomy 18 (Edwards’ syndrome), Turner syndrome, and Mosaic Down syndrome. Ninalia Non-Invasive Prenatal Screening (NIPT) from Eurofins Biomnis is an innovative way to screen for possible chromosome mosaicism, as well as common fetal genetic disorders such as Patau syndrome (trisomy 13), and Down syndrome (trisomy 21). Expectant mothers whose pregnancies pose particular risks for these and other pathologies may be prescribed the NIPT from the tenth week of pregnancy, following the first-trimester ultrasound. Unlike invasive screening techniques, it poses no threat to the fetus.

Mosaicism Down syndrome, a rare form of Down syndrome that involves fewer affected cells than a typical trisomy 21 is difficult to detect. The world-leading NIPT from Eurofins Biomnis may, however, detect such chromosomal imbalances that suggest the presence of mosaicism Down syndrome in the fetus. The NIPT also effectively detects other chromosomal pathologies in pregnant women, including autosomal aneuploidies, chromosome deletions, and duplications greater than 7 megabases (karyotype-equivalent resolution). Depending on local regulations, the test also provides the option to test for fetal gender and sex chromosome aneuploidies. In the case of screening for more common fetal pathologies such as trisomy 13, 18, and 21, a single maternal blood sample yields a detection rate of up to 99%. This effectively minimizing unnecessary invasive screening procedures by as much as 95%, and results are available within 5 business days.

Boasting greater sensitivity and specificity than serum marker screening tests, Ninalia NIPT is one of the most accurate ways to rule out or offer early detection of common fetal pathologies. Eurofins Biomnis follows the International recommendations of the American Congress of Obstetricians and Gynecologists (ACOG) and the Society for Maternal–Fetal Medicine (SMFM). A France-based laboratory and European leader in specialized medical pathology testing, the group has long led the field in next-generation DNA sequencing techniques.