The Materniti21 test is a non-invasive prenatal screening (NIPS) test that analyzes cell-free DNA in a pregnant woman’s blood to identify the risk of certain chromosomal abnormalities in the fetus. Specifically, it primarily screens for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). In some cases, it can also detect sex chromosome aneuploidies such as Turner syndrome (monosomy X), Klinefelter syndrome (XXY), and triple X syndrome (XXX). It might also be used to determine the fetal sex.
The importance of this type of screening lies in its ability to provide expectant parents with early information about the likelihood of these conditions. Compared to traditional screening methods, it offers higher detection rates and lower false-positive rates, leading to fewer unnecessary invasive procedures like amniocentesis or chorionic villus sampling. This reduces the risk of complications associated with invasive testing. Historically, these tests have evolved significantly, offering more comprehensive screening options with improvements in technology.