Epigenetic mechanisms including DNA methylation are supposed to play a key role in fetal development. Here we have investigated fetal DNA-methylation levels of 27,578 CpG loci in 47 chorionic villi (CVS) and 16 amniotic cell (AC) samples. Methylation levels differed significantly between karyotypically normal AC and CVS for 2,014 genes. AC showed more extreme DNA-methylation levels of these gen...

We applied a noninvasive prenatal test for the determination of fetal gender in multiple pregnancies by using free fetal DNA circulating in maternal blood in order to evaluate whether the quantification of male DNA could distinguish the fetal gender and the number of male and female fetuses in multiple pregnancies. We enrolled consecutively 44 women with twin pregnancies between 11-14 weeks of ...

  Background: Infection with parvovirus B19 may cause fetal losses including spontaneous abortion, intrauterine fetal death and non-immune hydropsfetalis. The aim of this study is to determine the frequency of parvovirus B19 in formalin fixed placental tissues in lost fetuses using real-time PCR method.   Methods : In this cross-sectional study, 100 formalin fixed placental tissues with unknown...

Since the discovery of cell-free fetal DNA (cffDNA) in maternal plasma in 19971 there has been rapid progress in harnessing this as a source of fetal genetic material for prenatal diagnosis. The majority of cell-free DNA (cfDNA) is maternal in origin2, with the fetal proportion emanating from the placenta3, detectable in the maternal circulation from around 5 weeks’ gestation2 and constituting ...

Recent developments in molecular genetics improved our knowledge on fetal genome and physiology. Novel scientific innovations in prenatal diagnosis have accelerated in the last decade changing our vision immensely. Data obtained from fetal genomic studies brought new insights to fetal medicine and by the advances in fetal DNA and RNA sequencing technology novel treatment strategies has evolved....

Dennis Lo, also called Yuk Ming Dennis Lo, is a professor at the Chinese University of Hong Kong [5] in Hong Kong, China. In 1997, Lo discovered fetal DNA in maternal plasma, which is the liquid component of a pregnant woman's blood. By 2002, Lo distinguished the DNA differences between pregnant women and their fetuses, enabling scientists to identify fetal DNA in pregnant women's blood. Lo use...

We recently demonstrated noninvasive detection of fetal aneuploidy by shotgun sequencing cell-free DNA in maternal plasma using next-generation high throughput sequencer. However, GC bias introduced by the sequencer placed a practical limit on the sensitivity of aneuploidy detection. In this study, we describe a method to computationally remove GC bias in short read sequencing data by applying ...

SNR separates meaningful information (signal) from background information (noise). In statistical applications of SNR, signal is equivalent to a random variable expectation, and noise is equivalent to its variance. Here, cell-free DNA material (containing both maternal and fetal DNA) from pregnant plasma is tested for detection of genomic events in fetal DNA. The fractional fetal DNA in a sampl...