Chromosome Deletions

Ninalia Non-invasive Prenatal Screening (NIPT) from Biomnis is a ground-breaking genetic screening test that effectively detects autosomal abnormalities, chromosomal imbalances, chromosome deletions or duplications and other common fetal pathologies. Using circulating cell-free DNA (cfDNA) from a maternal blood sample, the screening method poses no risk to the fetus, unlike invasive methods such as amniocentesis. Offering results within 5 working days, the test detects fetal pathologies including Patau syndrome (trisomy 13), Edwards’ syndrome (trisomy 18) and Down syndrome (trisomy 21) in women with high-risk pregnancies. It uses next-generation sequencing (NGS) and can be performed starting after the 10th week of gestation, after the first-trimester ultrasound. Boasting greater sensitivity and specificity than serum marker screening tests, Ninalia NIPT is one of the most accurate and reliable ways to rule out chromosome deletions / duplications and other pathologies.

Numerous screening options are available to healthcare providers and patients starting in the first trimester, including for trisomy 13, 18, and 21. Moreover, the innovative NIPT from Biomnis can now be extended to screen for other, less common chromosomal pathologies in pregnant women. These include the detection of chromosome deletion or duplications greater than 7 megabases (karyotype-equivalent resolution) and other autosomal aneuploidies. Depending on local regulations, the test also provides the option to test for fetal gender and sex chromosome aneuploidies. This NIPT is designated as a screening option for women at increased risk of her fetus carrying chromosome duplications or deletions or for developing other common genetic fetal pathologies. In the event of a positive result, an invasive diagnostic procedure such as amniocentesis may confirm the diagnosis.

However, since a single maternal blood sample yields a detection rate of up to 99.9%, the NIPT minimizes unnecessary screening procedures by as much as 95%. Chromosomal imbalances and other fetal disorders can therefore be effectively ruled out in the first trimester. A European leader in the sector of specialized medical pathology, Eurofins Biomnis carries out more than 32,000 analyses every day from a range of over 2,500 tests, including specialized screening procedures for the potential detection of chromosomal imbalances and mosaicism syndrome.