The MaterniT21 PLUS test is a non-invasive prenatal screening (NIPS) that analyzes cell-free DNA in maternal blood to assess the risk of certain chromosomal conditions in the fetus. One aspect of this screening often includes fetal sex determination. Typically, results are delivered through a healthcare provider who explains the findings. The report usually clearly indicates the sex chromosomes identified (XX for female, XY for male) and clarifies whether the result is considered high or low confidence based on the analysis. Sometimes, the report may state “sex chromosome aneuploidy detected” which indicates a potential issue with the sex chromosomes and requires further investigation.
Early knowledge of fetal sex can be valuable for several reasons. It allows prospective parents to begin bonding with their child and make informed decisions about their pregnancy journey. Furthermore, identifying sex chromosome aneuploidies like Klinefelter syndrome (XXY) or Turner syndrome (XO) early in pregnancy enables timely consultation with genetic counselors and facilitates access to specialized care and support resources if needed. The development of NIPS, including the MaterniT21 PLUS test, has significantly advanced prenatal care by offering a safe and relatively accurate method for obtaining this information earlier in gestation than traditional methods.