Prenatal trisomy syndrome screening test

NIPT (non-invasive prenatal testing) 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 prenatal 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 trepidation. NIPT kits allow for trisomy syndrome testing with negligible risks, offering reassurance to patients who wish to avoid invasive sampling. Healthcare providers now have the option of prescribing non-invasive prenatal trisomy syndrome screening tests, reducing the need for invasive screening.

The simple-to-prescribe prenatal trisomy syndrome test developed by Eurofins Biomnis uses cell-free DNA thanks to a sampling of maternal blood, and presents zero risk to the fetus. Moreover, this non-invasive prenatal screening method has much greater sensitivity and specificity when compared to serum marker screening, yielding unusual accuracy. While the non-invasive prenatal 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.

In many cases, prescribing an NIPT for prenatal trisomy syndrome screening allows patients to entirely forgo invasive sampling, reducing overall risk of complications including procedure-induced miscarriage. Offering detection rates of over 99%, the innovative 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 Patau Syndrome screening as well as detection of other trisomies, results are available within 7 working days. Non-invasive prenatal trisomy syndrome screening has been found to reduce unnecessary invasive sampling by up to 95%, leading to improved maternal and child health outcomes.