Our cell-based non-invasive prenatal test (CB-NIPT) allow fetal genomic profiling targeting all pregnancies at early gestational weeks.
The CB-NIPT test has:
- proprietary chemistry and instruments
- automated workflow
- high resolution analysis (0.8MB)
- the ability to analyze twins and discover vanishing twins
- completed validation (PoC) published in Prenatal Diagnostic journal and presented at clinical workshop
- is presently tested in international clinical studies enrolling 2.000 pregnant women
The CB-NIPT testing of pathogenic genomic copy number variants (pCNVs), other than common trisomies, provides a true comprehensive and accurate profiling of the fetal genome for microdeletions and microduplications obtained with a non-invasive procedure.
The advantage of a circulating fetal cell approach is that the DNA from fetal cells is not mixed with the mother’s DNA, it is not fragmentated and is fully preserved. This means that sensitivity/specificity for chromosomes aberrations and pathogenic variants detection is highly enhanced, when compared to cfDNA NIPT test.
To validate the proof of concept, a robust protocol to recover fetal trophoblasts from maternal blood has been used for multicenter clinical validation.
The first clinical validation of the procedure, with the enrollment of 372 high risk pregnant women, has been completed and the data have been presented at the ISUOG, COGEN, and ISPD International Congresses in 2021 and published in Prenatal Diagnosis (LINK ALLA PUBBLICAZIONE).
Single cell analysis done with the CB-NIPT platform provided a full concordance (100%) with the cytogenetic results.
Another clinical evaluation study with a larger patient cohort of 2500 pregnant women enrolled in 11 maternity hospitals in Europe and in Asia, will be available soon.
This unique innovative platform is opening the way to a new chapter in prenatal research diagnosis and prenatal clinical studies.