Colony-stimulating factor-1 (CSF-1), the primary regulator of mononuclear phagocyte (Mphi) production, exists as either a circulating or cell surface, membrane-spanning molecule. To establish transplacental transfer of maternal CSF-1, gestational day-17 mothers were injected intravenously with 125I-mouse CSF-1 or human rCSF-1, and the 125I-cpm or human CSF-1 concentrations were measured in feta...

Invasive methods for prenatal diagnosis include chorionic villus sampling (CVS) and amniocentesis that entail the risk of fetal loss and mortality. During pregnancy, fetal cells including fetal DNA crossed the placenta and within maternal peripheral blood those valuable sources of the sex and genetics information fetuses. It is demonstrated fetal DNA in plasma and serum from healthy pregnant wo...

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...

OBJECTIVE To examine the feasibility of fetal RHD genotyping at 11-13 weeks' gestation from analysis of circulating cell-free fetal DNA (ccffDNA) in the plasma of RhD negative pregnant women using a high-throughput robotic technique. METHODS Stored plasma (0.5 ml) from 591 RhD negative women was used for extraction of ccffDNA by a robotic technique. Real-time quantitative polymerase chain rea...

Current prenatal diagnosis uses non-invasive procedures of maternal serum screening and ultrasound exam to evaluate the risk of chromosomal abnormalities and invasive procedures of chorionic villus sampling and amniocentesis for the diagnosis of cytogenomic abnormalities and gene mutations. The discovery of cell free fetal DNA (cffDNA) in maternal blood prompted the application of massive paral...

OBJECTIVE Several non-invasive prenatal testing (NIPT) methods, which analyze circulating fetal cell-free DNA (cfDNA) in maternal plasma, suggest a fetal fraction (FF) ≥ 4% for a reportable result, with the assumption that fetal aneuploidies may not be detectable at lower FF. This study determined the actual limit of detection (LOD) of a massively parallel sequencing-based NIPT method and evalu...

Digital PCR enables the absolute quantitation of nucleic acids in a sample. The lack of scalable and practical technologies for digital PCR implementation has hampered the widespread adoption of this inherently powerful technique. Here we describe a high-throughput droplet digital PCR (ddPCR) system that enables processing of ~2 million PCR reactions using conventional TaqMan assays with a 96-w...

BACKGROUND The development of sequencing-based noninvasive prenatal testing (NIPT) has been largely focused on whole-chromosome aneuploidies (chromosomes 13, 18, 21, X, and Y). Collectively, they account for only 30% of all live births with a chromosome abnormality. Various structural chromosome changes, such as microdeletion/microduplication (MD) syndromes are more common but more challenging ...

Circulating tumor DNA (ctDNA) is released by cancer cells into body fluids. The collection of fluids that contains ctDNA, also known as lliquid biopsy, allows to access through a minimally invasive procedure. ctDNA has been proposed alternative source for genotyping purposes and longitudinal genetic monitoring. Also, radiation-free tool the early identification chemorefractory patients. We will...

Prenatal diagnosis (PD) is recommended in pregnancies after a Preimplantation Genetic Diagnosis (PGD). However, conventional PD entails a risk of fetal loss which makes PGD patients reluctant to undergo obstetric invasive procedures. The presence of circulating fetal DNA in maternal blood allows performing a non-invasive prenatal diagnosis (NIPD) without risk for the pregnancy outcome. This wor...