OBJECTIVE Cell-free fetal DNA is a source of fetal genetic material that can be used for non-invasive prenatal diagnosis. Usually constituting less than 10% of the total cell free DNA in maternal plasma, the majority is maternal in origin. Optimizing conditions for maximizing yield of cell-free fetal DNA will be crucial for effective implementation of testing. We explore factors influencing yie...

İnsan vücudunda bir veya birden çok sistemin geri dönüşümsüz fonksiyon kaybı sonucunda ortaya çıkan ve yaşam boyu tedavi gerektiren kronik hastalıkların prevalansı dünyada giderek artmaktadır. İntrauterin ortamdaki fetüs sürekli gelişim halindedir. Fetüsün deoksiribonükleik asit (DNA) diziliminin fetal dö-nemde maruz kalınan maternal faktörlere çeşitli çevresel stresörlere bağlı olarak yeniden ...

OBJECTIVE This study aimed to provide an individualized assessment of fetal trisomy 21 and trisomy 18 status for twin pregnancies by maternal plasma DNA sequencing. METHOD Massively parallel sequencing was performed on the plasma/serum DNA libraries of eight twin pregnancies and 11 singleton pregnancies. The apparent fractional fetal DNA concentrations between genomic regions were assessed to...

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 sam...

Although cell-free nucleic acids were first described in the 1940s (1 ), it was not until tumor-specific DNA sequences were detected in the plasma of cancer patients (2 ) that they started to attract the interest of the wider scientific community. Because the placenta shares numerous features with malignant tissues, such as a high rate of cell turnover and the expression of certain protooncogen...

Epigenetic processes play a key role in orchestrating transcriptional regulation during development. The importance of DNA methylation in fetal brain development is highlighted by the dynamic expression of de novo DNA methyltransferases during the perinatal period and neurodevelopmental deficits associated with mutations in the methyl-CpG binding protein 2 (MECP2) gene. However, our knowledge a...

OBJECTIVE While large fetal copy number aberrations can generally be detected through sequencing of DNA in maternal blood, the reliability of tests depends on the fraction of DNA that originates from the fetus. Existing methods to determine this fetal fraction require additional work or are limited to male fetuses. We aimed to create a sex-independent approach without additional work. METHODS...

OBJECTIVE In contrast to the traditional teaching that the placenta forms an impermeable barrier, multiple studies show that both intact fetal cells and cell-free nucleic acids circulate freely in maternal blood. Complications of pregnancy, such as pre-eclampsia, or fetal cytogenetic abnormalities, such as trisomy 21, increase transfusion of both intact fetal cells and cell-free fetal nucleic a...

485–7. 3. Lo YMD, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768–75. 4. Zhong XY, Laivuori H, Livingston JC, Ylikorkala O, Sibai BM, Holzgreve W, et al. Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrati...

BACKGROUND Noninvasive prenatal diagnosis of fetal aneuploidy by maternal plasma analysis is challenging owing to the low fractional and absolute concentrations of fetal DNA in maternal plasma. Previously, we demonstrated for the first time that fetal DNA in maternal plasma could be specifically targeted by epigenetic (DNA methylation) signatures in the placenta. By comparing one such methylate...