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• W2894908603 abstract "Abstract Background Prenatal diagnosis is an important part of prenatal care for many patients. Traditional methods of sampling fetal genetic material for a definitive diagnosis, such as chorionic villus sampling and amniocentesis, are invasive and expose the fetus to the risk of spontaneous miscarriage. The discovery of the presence of fetal cell–free DNA in the circulation of pregnant women led to the possibility of noninvasive genetic and chromosomal assessment of the fetus through the sampling of maternal peripheral blood. The clinical introduction of cell-free fetal DNA (cffDNA) tests has led to a substantial reduction in the number of invasive procedures performed worldwide. Content This chapter describes the biological properties of circulating cffDNA, the applications that have been developed, and their clinical uses, and it highlights some analytical features that require careful consideration. Circulating cffDNA is derived from cell turnover of the placenta. This DNA is highly fragmented, with the majority of fragments less than 200 bp in length. Circulating cffDNA exists with a substantial background of maternal DNA. Circulating cffDNA can be detected from early pregnancy onward, and it rapidly disappears from maternal circulation following delivery of the newborn. The analysis of cffDNA is now clinically used for the assessment of sex-linked diseases, fetal blood group incompatibility, fetal chromosomal aneuploidies, and some single-gene diseases. Analytical protocols are designed to maximize the yield of fetal DNA by minimizing maternal DNA contamination and by preserving the abundance of short DNA molecules. The inclusion of internal positive controls for the presence of fetal DNA or the measurement of fetal DNA fraction is an important quality control parameter." @default.
• W2894908603 created "2018-10-12" @default.
• W2894908603 creator A5005665172 @default.
• W2894908603 creator A5060867614 @default.
• W2894908603 date "2018-01-01" @default.
• W2894908603 modified "2023-09-26" @default.
• W2894908603 title "Circulating Nucleic Acids for Prenatal Diagnostics" @default.
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• W2894908603 doi "https://doi.org/10.1016/b978-0-12-816061-9.00010-2" @default.
• W2894908603 hasPublicationYear "2018" @default.
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