The possibility to isolate circulating fetal cells from pregnant women for direct analysis of fetal chromosomes and unfragmented DNA offers an exciting alternative to the conventional invasive procedures and to the cfDNA NIPT. For many years the challenge in circulating fetal cells research was their isolation in a high throughput and automated way for clinical applications. In the prenatal fetal health testing space, there is a significant morbidity burden beyond the common trisomies screened and tested for today. These conditions, called pathogenic CNVs (pCNVs), are more common than the genomic conditions currently tested and mostly go unrecognized until after birth.
To unlock the power of single cell biology, Menarini Biomarkers has developed a proprietary technology that enables automated enrichment, isolation and recovery of very rare cells from a simple maternal blood draw, followed by single cell-based genomic analysis.
Our single-cell isolation platform for automated isolation and analysis of fetal trophoblasts supports the scalability of a cell-based non-invasive prenatal test for fetal genomic profiling targeting all pregnancies.
The CB-NIPT test provides fetal genetic confirmation of each unfragmented individual cell with a resolution of genomic copy number variants (CNVs) down to 800Kb. This resolution allows to detect pathogenic alteration such as microdeletions and microduplications that are responsible of clinically relevant genetic diseases. This resolution can not be achieved with the use of fetal circulating free DNA (cfDNA) because it is highly fragmented and mixed to a huge background of maternal DNA, limiting its utility for accurate detection of genetic abnormalities with a small size.
The CB-NIPT testing of pathogenic genomic copy number variants (pCNVs), other than common trisomies, respond to a clear medical need: to get a true comprehensive and accurate profiling of the fetal genome for microdeletions and microduplications obtained with a non-invasive pocedure.