BACKGROUND The precise measurement of cell-free fetal DNA in maternal plasma facilitates noninvasive prenatal diagnosis of fetal chromosomal aneuploidies and other applications. We tested the hypothesis that microfluidics digital PCR, in which individual fetal-DNA molecules are counted, could enhance the precision of measuring circulating fetal DNA. METHODS We first determined whether microfl...

BACKGROUND Efforts have been undertaken recently to assess the fetal genome through analysis of circulating cell-free (ccf) fetal DNA obtained from maternal plasma. Sequencing analysis of such ccf DNA has been shown to enable accurate prenatal detection of fetal aneuploidies, including trisomies of chromosomes 21, 18, and 13. We sought to extend these analyses to examine subchromosomal copy num...

objective: 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...

sperm dna is known to contribute one half of the genomic material to the offspring. the integrity of sperm dna is important in fertilization, embryonic and fetal development, and postnatal child well being. the nature has created multiple barriers that allow only the fittest sperm to reach and fertilize an oocyte. however, assisted reproductive techniques (art), like ivf and icsi, may allow spe...

BACKGROUND Detection of fetal DNA in maternal plasma is achievable at 5 weeks of gestation, but few large-scale studies have reported circulating fetal and maternal DNA across all trimesters. METHODS Blood samples were collected from 201 women between 5 and 41 weeks of pregnancy. Quantitative PCR was used to assess total and fetal DNA concentrations, and allelic discrimination analysis was in...

Toxoplasmosis is an important zoonotic diseases in human and animals. The disease caused by the protozoan Toxoplasma gondii. To determine the infection rate of toxoplasmosis in sheep and goats in east Azarbaijan province of Iran a total of 186 sera, 13 fetal brains, 13 cotyledons and 34 whole blood samples were collected from sheep and goats in Tabriz abattoir during the year 2010. Serum sample...

BACKGROUND The current methods for distinguishing the zygosities of twins include ultrasound scanning, which is nondefinitive, and amniocentesis, which is invasive. We explored the use of massively parallel sequencing of maternal plasma DNA for the noninvasive prenatal assessment of the zygosities of twin pregnancies. METHODS Plasma DNA was extracted from blood collected from 8 women pregnant...

Currently in the UK, prenatal diagnosis of genetic conditions and Down’s syndrome requires invasive diagnostic tests such as amniocentesis and chorionic villus sampling (CVS). Procedural related miscarriage rates of about 1% have been quoted for these tests which are not usually done before 11 weeks’ gestation. Annually in the UK, 32 000 women have an invasive diagnostic test as a result of oth...

OBJECTIVE To examine the possible effects of maternal and fetal characteristics on the fetal fraction in maternal plasma cell-free (cf) DNA at 11-13 weeks' gestation and estimate the proportion of pregnancies at high risk of non-invasive prenatal testing (NIPT) failure because the fetal fraction is less than 4%. METHODS In 1949 singleton pregnancies at 11-13 weeks' gestation cf-DNA was extrac...