Trisomy syndrome screening test

Non-invasive prenatal testing (NIPT) is an innovative genetic screening test 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 trisomy syndrome screening tests are among the most-prescribed diagnostic screening procedures for expectant mothers, the risks associated with traditional procedures including amniocentesis are frequently a source of patient concern. Healthcare providers now have the option of prescribing non-invasive trisomy syndrome screening tests, including Edwards' Syndrome tests,
with negligible risks. In many cases, these allow patients to avoid invasive sampling altogether, leading to improved maternal and child health outcomes.

The simple-to-prescribe trisomy syndrome test developed byEurofins Biomnis uses cell-free DNA thanks to a sampling of maternal blood, and presents no risk to the fetus. Moreover, this non-invasive prenatal genetic syndrome screening test has much greater sensitivity and specificity when compared to serum marker screening, yielding unusual accuracy. While the non-invasive trisomy syndrome test is remarkably sensitive and specific, it is classified as an approved screening option for pregnant 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 trisomy syndrome screening offers reliable initial assessment of risk for common fetal abnormalities. Offering detection rates of over 99%, the screening test can be carried out through a simple maternal blood sample by a primary healthcare provider or a Eurofins Biomnis partner laboratory. Available from 10 weeks of pregnancy, and allowing for accurate prenatal diagnosis of Down Syndrome as well as detection of other trisomies, results are available within 7 working days. Non-invasive trisomy 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).