The current fetal cell-free DNA in the blood of pregnancies without complications and with gestational and diabetes 2 type mellitus
Abstract. Non-invasive prenatal testing (NIPT) has another name for non-invasive prenatal screening (NIPS) - this area of prenatal diagnosis is rapidly developing and using the latest technologies. New generation sequencing for detection of fetal extracellular DNA in maternal plasma or other methods for evaluating extracellular DNA is the basis of NIPT and is used in 80% of cases to detect the main aneuploidies - trisomy 13, 18, 21.
This study was aimed at comparing two simplified methods for isolating fetal DNA from peripheral blood, and then comparing the results in pregnant women without complications and pregnancies with one type of complication.
Results. We tested peripheral blood samples from 64 normal and 29 abnormal pregnancies fetuses. The gestational age had a mean of 21 weeks. Maternal age has a median of 29 years. From 10 mL of maternal blood, we isolated a mean of 10.3 ± 1.15 × 106 mononuclear cells. The median number of isolated fetal nucleated red blood cells, corrected for 10 mL blood, was 31.2 × 104 cells in group II 72.4 × 104 – group I after magnetic‐activated sorting and 11.7 × 104 cells in group abnormal pregnancy, 29.5 × 104 – normal after hemoglobin enrichment. There is a significant statistical difference between the numbers of total NRBC isolated by the two techniques and research groups (P < 0.001).
Conclusion. Using a modified single-cell–based droplet digital PCR (sc-ddPCR) NIPT, researchers conducted a proof-of-concept study that successfully assessed the genetic information of extremely rare fetal cells in patients with uncomplicated pregnancy and women with gestational diabetes mellitus, as well as in pregnant women with type 2 diabetes complicated by hypertension.