Cell-free DNA has emerged as the most reliable, non-invasive prenatal screening tool for fetal aneuploidies. It come to replace previously widely used quadruple screen offered in second trimester of pregnancy. This change comes with improved detection aneuploidy but also presents potential gaps diagnosis including open defects and emerging data on prediction adverse pregnancy outcomes. review a...

BACKGROUND Noninvasive prenatal diagnosis with cell-free DNA in maternal plasma is challenging because only a small portion of the DNA sample is derived from the fetus. A few previous studies provided size-range estimates of maternal and fetal DNA, but direct measurement of the size distributions is difficult because of the small quantity of cell-free DNA. METHODS We used high-throughput pair...

OBJECTIVE Among the pitfalls of using cell-free fetal DNA in plasma for prenatal diagnosis is quality of the recovered DNA fragments and concomitant presence of maternal DNA (>95%). Our objective is to provide alternative methods for achieving enrichment and high-quality fetal DNA from plasma. METHODS Cell-free DNA from 31 pregnant women and 18 controls (10 males and 8 females) were size sepa...

Since the identification of fetal lymphocytes in maternal blood in 1969, investigators have endeavored to develop genetics-based noninvasive prenatal diagnostics (NIPD) (1 ). A robust noninvasive approach would augment or potentially supplant amniocentesis and chorionic villus sampling, which, although gold standards, carry a risk of fetal loss. Despite considerable efforts, the use of fetal ce...

in previous years, identification of fetal cells in maternal blood circulation has caused a new revolution in non-invasive method of prenatal diagnosis. low number of fetal cells in maternal blood and long-term survival after pregnancy limited the use of fetal cells in diagnostic and clinical applications. with the discovery of cell-free fetal dna (cffdna) in plasma of pregnant women, access to...