Liquid biopsies have recently been introduced as a diagnostic method from blood samples for detection of molecular biomarkers or very rare cells without the need of invasive procedures. Circulating tumor cells (CTC) or pieces of DNA from tumor cells that are circulating in the blood (circulating free DNA) can be found in cancer patients and have provided independent information on prognosis in early and advanced stages of cancer.
In addition to CTC, liquid biopsies are now being developed for detection of fetal circulating free DNA for prenatal screening of fetal aneuploidies (e.g. trisomies of chromosomes 21, 18, and 13).
However, fetal circulating free DNA is highly fragmented and compounded by a huge background of maternal DNA, limiting its utility for detection of genetic abnormalities, such as microdeletions and duplications with a small size. This could be overcome by the selection, in the maternal blood, of rare fetal cells, such as trophoblasts and erythroblasts.
For many years the challenge in circulating fetal cells research CTC was their isolation in a high throughput and automated way for clinical applications.
MBS has developed automated and high throughput methods that allow their detection, isolation and recovery as single cells from maternal blood. The availability of unfragmented genome from the isolated single fetal cells can provid unique information to detect alteration such as microdeletions and microduplications as small as 1.5Mb, often responsible of clinically relevant genetic diseases.
This work was presented at the COGEN and ISPD International Congresses in 2021.