Abstract Study question Is cffDNA in maternal blood applicable for fetal ploidy evaluation early pregnancy loss, and what are the strengths limitations of method. Summary answer With a sensitivity ∼85% aneuploidies ∼93% specificity, cffDNA-based testing is robust method status PL. What known already Pregnancy loss (PL) an under investigated condition without precise prognostic models or evident...

BACKGROUND Quantification of cell-free fetal DNA by methylation-based DNA discrimination has been used in non-invasive prenatal testing of fetal chromosomal aneuploidy. The maspin (Serpin peptidase inhibitor, clade B (ovalbumin), member 5; SERPINB5) gene, located on chromosome 18q21.33, is hypomethylated in the placenta and completely methylated in maternal blood cells. The objective of this st...

Embryo DNA fingerprinting represents an important tool for tracking embryo-specific outcomes after multiple embryo transfer during IVF. The situation in which two embryos are transferred and only one implants represents a unique opportunity for the most well-controlled validation of markers capable of identifying competent and incompetent embryos. Specifically, this design eliminates all patien...

Our laboratory continues to be actively involved in the development of new biomarkers for prenatal diagnosis using maternal blood and amniotic fluid. We have also developed a mouse model that demonstrates that cell-free fetal (cff) DNA is detectable in the pregnant maternal mouse. In human maternal plasma and serum we have analyzed factors that are important in the clinical interpretation of cf...

Recently published international guidelines recommend the clinical use of noninvasive prenatal test (NIPT) for aneuploidy screening only among pregnant women whose fetuses are deemed at high risk. The applicability of NIPT to aneuploidy screening among average risk pregnancies requires additional supportive evidence. A key determinant of the reliability of aneuploidy NIPT is the fetal DNA fract...

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...

cell free dnas (cfdnas) are small fragments of genomic or mitochondrial dna releasing from cells into the blood stream. the presence of cfdna in the human circulatory system has been shown for the first time in 1948 however, the potential clinical applications of cfdna remained unknown until recent progress in detection and quantification of these molecules by sensitive methods. in this paper, ...

Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does...

BACKGROUND Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis, particularly for the analysis of fetal genetic traits, which are absent from the maternal genome, e.g., RHD or Y-chromosome-specific sequences. To date, the analysis of other fetal genetic traits has been more problematic because of the overwhelming presence of ma...