Prenatal genetic syndrome screening test

Non-invasive prenatal testing (NIPT) is an innovative form of genetic screening allowing for early detection of the most common fetal aneuploidies in at-risk pregnant women, including Patau Syndrome (trisomy 13), Edwards' Syndrome (trisomy 18), and Down Syndrome (trisomy 21). Although prenatal genetic syndrome screening tests are among the most-prescribed diagnostic procedures for expectant mothers, the risks associated with traditional techniques including amniocentesis are frequently a source of patient concern. Healthcare providers now have the option of prescribing non-invasive prenatal genetic syndrome screening tests, including Edwards' Syndrome screening, while minimizing risks. In many cases, these allow patients to avoid invasive sampling altogether, leading to improved maternal and child health outcomes.

The prenatal genetic syndrome test developed by Eurofins Biomnis uses cell-free DNA thanks to a sampling of maternal blood, and presents no risk to the fetus. Moreover, the test, which performs prenatal screening through fetal DNA, has much greater sensitivity and specificity when compared to serum marker screening, yielding unusual accuracy. While the non-invasive prenatal genetic syndrome test is remarkably sensitive and specific, it is classified as a screening option for women at heightened risk of trisomy 13 (Patau Syndrome), as well as trisomies 18 and 21. In the case of a positive result for one or more pathologies, an invasive procedure such as amniocentesis is administered to confirm the diagnosis.

Prescribing an NIPT for prenatal genetic screening and fetal syndrome screening offers reliable initial risk assessment for common abnormalities. With detection rates exceeding 99%, the test is administered through a simple maternal blood sample by a primary healthcare provider or a Eurofins Biomnis partner laboratory. Available from 10 weeks of pregnancy, results for the fetal DNA test are available within 7 working days. Non-invasive prenatal genetic screening and fetal syndrome screening may reduce unnecessary invasive sampling by up to 95%.Eurofins Biomnis follows the international recommendations of the American Congress of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM).