Analyses of cell-free fetal DNA (cff-DNA) from maternal plasma using massively parallel sequencing enable the noninvasive detection of feto-placental chromosome aneuploidy; this technique has been widely used in clinics worldwide. Noninvasive prenatal tests (NIPT) based on cff-DNA have achieved very high accuracy; however, they suffer from maternal copy-number variations (CNV) that may cause fa...

Abstract In this study we wanted to determine the performance of a paired-end sequencing-based noninvasive prenatal testing (NIPT) assay in detection common fetal trisomies twin pregnancy samples. Samples from patients with were collected at least 10 weeks gestation and analyzed single center Germany. Results Anomaly Detected (i.e., high risk) or No low for trisomy 21, 18, 13 reported. Follow-u...

Background: With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method rather newly introduced, experiences with false positive results are few. Even rare cases of discordant may cause psychological stress.
 Aim Study: The aim this study was to examine NIPT tests in high-risk pregnancies. literat...

Key content Fetal placental mosaicism, of which confined mosaicism is a subtype, occurs in 2–3% pregnancies. Confined may lead to false positive result on non-invasive prenatal testing (NIPT) for common aneuploidies. The risk chorionic villus sample (CVS) following NIPT 2, 4, 22 and 59% trisomy 21, 18, 13 45, X respectively. Following the absence significant fetal structural anomaly (FSA), care...

The revolutionary finding of cell free DNA (cfDNA) circulating in the bloodstream had a huge impact on development non-invasive prenatal testing (NIPT) (obstetrics) and liquid biopsies (oncology). latter, combined with sequencing tumor DNA-containing cfDNA, have been widely applied cancer research, demonstrating potential these techniques to improve prognostication guide individualized treatmen...

The objective — To assess the effectiveness of including NIPT in structure prenatal diagnostics Moscow. Material and Methods Totally 5,181 pregnancies undergoing screening for fetal trisomy using during period from 01.04.2020 to 30.09.2020 Russia. According results biochemical blood test, patients were divided into two groups: group high risk (cut-off ≥1:100) (n=208) intermediate 1:101 – 1:2500...

Background/Aims: Screening for gestational diabetes mellitus (GDM) are currently done at 24 - 28 weeks of conception, missing out on the most vulnerable period organogenesis and thus preventing clinicians from starting treatments until late second or third trimester. MicroRNAs (miR) small non-coding RNA molecules that could aid in detecting predicting GDM through establishing a novel non-invasi...

We developed a protocol of noninvasive prenatal testing (NIPT), employing a higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal plasma DNA (mpDNA) caused by cell-free fetal DNA (cffDNA). In the present study, this approach was applied to four families with autosomal recessive (AR) congenital sensorineural hearing loss. First, a fraction of the fetal DNA in mpDNA w...

The current standard for prenatal screening is mostly based on biochemical marker tests and the use of ultrasonography. There is no secure stand-alone screening marker for congenital heart defects (CHDs). MicroRNAs (miRNAs) that are associated with cardiogenesis enter the maternal peripheral bloodstream during pregnancy and allow non-invasive prenatal testing (NIPT). The present study investiga...