Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912304781> ?p ?o ?g. }
- W2912304781 endingPage "299" @default.
- W2912304781 startingPage "291" @default.
- W2912304781 abstract "Non-invasive prenatal diagnosis (NIPD) is based on fetal DNA analysis starting from a simple peripheral blood sample, thus avoiding risks associated with conventional invasive techniques. During pregnancy, the fetal DNA increases to approximately 3–13% of the total circulating free DNA in maternal plasma. The very low amount of circulating cell-free fetal DNA (ccffDNA) in maternal plasma is a crucial issue, and requires specific and optimized techniques for ccffDNA purification from maternal plasma. In addition, highly sensitive detection approaches are required. In recent years, advanced ccffDNA investigation approaches have allowed the application of non-invasive prenatal testing (NIPT) to determine fetal sex, fetal rhesus D (RhD) genotyping, aneuploidies, micro-deletions and the detection of paternally inherited monogenic disorders. Finally, complex and innovative technologies such as digital polymerase chain reaction (dPCR) and next-generation sequencing (NGS) (exhibiting higher sensitivity and/or the capability to read the entire fetal genome from maternal plasma DNA) are expected to allow the detection, in the near future, of maternally inherited mutations that cause genetic diseases. The aim of this review is to introduce the principal ccffDNA characteristics and their applications as the basis of current and novel NIPT." @default.
- W2912304781 created "2019-02-21" @default.
- W2912304781 creator A5030568464 @default.
- W2912304781 creator A5045022292 @default.
- W2912304781 creator A5057667251 @default.
- W2912304781 creator A5089026052 @default.
- W2912304781 date "2019-02-02" @default.
- W2912304781 modified "2023-10-16" @default.
- W2912304781 title "Non-invasive Prenatal Testing Using Fetal DNA" @default.
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