Autosomal aneuploidies

Non-invasive Prenatal Screening (NIPT) is an innovative and safe method for detecting autosomal aneuploidies, chromosomal imbalances and other fetal pathologies. The Ninalia NIPT screening test from Eurofins Biomnis is an effective and reliable way to detect common fetal abnormalities including Patau syndrome (trisomy 13), Edwards’ syndrome (trisomy 18) and Down syndrome (trisomy 21) in expectant mothers whose pregnancies pose particular risks. The non-invasive test uses cell-free DNA by extracting a sampling of maternal blood. Unlike amniocentesis and other invasive screening options, it poses no risk to the fetus. Additionally, it has both greater sensitivity and specificity than serum marker tests, making it one of the most accurate autosomal aneuploidies screening tests currently available on the market.

Several test options are available to healthcare providers and patients starting in the tenth week of pregnancy, including for trisomy 13, 18, and 21. And today, the ground-breaking NIPT from Biomnis can be extended to screen for other, less common chromosomal pathologies in pregnant women. These include the effective detection of autosomal abnormalities, 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. While NIPT is quite sensitive and specific, it is classified as a screening option for women at increased risk of autosomal abnormalities and an increased risk of her fetus developing trisomy 13, 18 or 21. In the event of a positive result for one of these pathologies, an invasive diagnostic procedure such as amniocentesis is generally prescribed to confirm the diagnosis.

A single maternal blood sample yields a detection rate of up to 99% minimizing unnecessary invasive screening procedures by as much as 95%. Results are available within 5 business days.
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.