Non-invasive prenatal testing (NIPT) for genetic conditions since its introduction in 2011 has seen widespread adoption and changed the paradigm in prenatal healthcare. However, current technologies limit it to copy number variations (aneuploidies) such as Trisomy 21 causative to Down Syndrome and large structural defects in the DNA of the fetus. Based on proprietary technology in-licensed by InfanDx, we work on applying the NIPT concept also to the early and sensitive detection of micro-deletions and point mutations in the fetal DNA. This opens the way for testing for a wide range of genetic diseases in the first trimester of pregnancy - without the need of invasive and inherently risky sampling procedures.
While the technology is broadly applicable, InfanDx near-term focus lies on developing a non-Invasive prenatal screening (NIPS) panel for the diseases that every newborn gets screened for within the first weeks after birth. This current postnatal newborn screening covers 30-60 predominantly metabolic conditions which benefit from early detection. By taking newborn screening prenatal non-invasively, InfanDx expects to put parents at ease regarding these many but relatively rare diseases. However, in the case of a positive screening test result, timely confirmatory diagnosis will help parents and clinicians to prepare for best possible clinical management of these - sometimes even prenatally - treatable diseases ensuring the best possible outcome for the most vulnerable of all patients: the Child.