Rapidly developing next-generation sequencing (NGS) technologies produce a large amount of data across the whole human genome and allow a large number of DNA samples to be analyzed simultaneously. Screening cell-free fetal DNA (cffDNA) obtained from maternal blood using NGS technologies has provided new opportunities for non-invasive prenatal diagnosis (NIPD) of fetal aneuploidies. One of the m...

Background: Current prenatal diagnosis requires invasive testing which carries a 1-4% procedure-related-risk of miscarriage; hence, non-invasive techniques are desired. The recent demonstration of cell-free-fetal-DNA enriched from maternal plasma has opened new possibilities for non-invasive-prenatal-diagnosis of not only genetic-disorders such as β-thalassaemia and haemophilia but also chromos...

Background: Current prenatal diagnosis requires invasive testing which carries a 1-4% procedure-related-risk of miscarriage; hence, non-invasive techniques are desired. The recent demonstration of cell-free-fetal-DNA enriched from maternal plasma has opened new possibilities for non-invasive-prenatal-diagnosis of not only genetic-disorders such as β-thalassaemia and haemophilia but also chromos...

BACKGROUND Since its introduction in the 1960s Anti-D immunoglobulin (Anti-D Ig) has been highly successful in reducing the incidence of haemolytic disease of the fetus and newborn (HDFN) and achieving improvements to maternal and fetal health. It has protected women from other invasive interventions during pregnancy and prevented deaths and damage amongst newborns and is a technology which has...

Basically, diagnosis inherited diseases in gestation is very important. But amplication of the progress in early stage of pregnance is the serious and great aim for rapid application of risk assesment for both and fetus. Fetal genetic tissues collected through techniques such as amniocentesis and chorionic villus sampling (CVS) for prenatal diagnosis of fetal genetic diseases. These procedures ...

BACKGROUND Maternal-fetal RhD antigen incompatibility causes approximately 50% of clinically significant alloimmunization cases. The routine use of prophylactic anti-D immunoglobulin has dramatically reduced hemolytic disease of the fetus and newborn. Recently, fetal RHD genotyping in RhD negative pregnant women has been suggested for appropriate use of anti-D immunoglobulin antenatal prophylax...

Non-invasive prenatal testing (NIPT) of fetal aneuploidy using cell-free fetal (cffDNA) from mother’s blood sample has shown to be an accurate and reliable screening tool. The current NIPT protocols are based on targeted or whole genome sequencing, which demand resourceintensive bioinformatical capacity. The complexity of current NIPT technology is trustworthy but the comprehensive adaption of ...

Background: It is well documented that fetal DNA can cross the placenta and is present in peripheral maternal blood during pregnancy in human. This fetal DNA also named circulating cell free fetal DNA, has emerged as a valuable source for genetic evaluation. Compared with humans, ovine species have a different structure of placental (synepitheliochorial) with no direct contact between the troph...

BACKGROUND Cell-free fetal DNA and cell-free total DNA in maternal circulation have been proposed as potential markers for noninvasive monitoring of the placental condition during the pregnancy. However, the correlation of and change in cell-free fetal DNA and cell-free total DNA in spontaneous abortion (SA) with fetal chromosomal aneuploidy have not yet been reported. Therefore, we investigate...