Progress toward Noninvasive Prenatal Diagnosis
نویسندگان
چکیده
منابع مشابه
Progress toward noninvasive prenatal diagnosis.
For decades, noninvasive analysis of the fetal genotype has been the holy grail of the field of prenatal diagnosis. Noninvasive prenatal diagnosis (NIPD) would use a sample source other than amniocentesis or chorionic villus sampling. The focus has been primarily on the use of maternal blood samples, with less attention given to the possibility of recovering fetal cells from maternal cervical s...
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I became interested in the area of prenatal diagnosis when I was a medical student at Oxford. I had been following the impressive advances occurring in the prenatal diagnosis of the hemoglobinopathies through the pioneering work of Prof. Yuet Wai Kan at the University of California San Francisco (1 ) and Prof. David Weatherall at Oxford (2 ). I also had the good fortune of getting firsthand exp...
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A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administratio...
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Invasive procedures for prenatal diagnosis are associated with increased risk of abortion; thus, development of noninvasive procedures would be beneficial. Based on the observation that embryonic nucleated red blood cell (NRBC) crosses the placenta and enters the circulation of pregnant women, the ability to identify such cell would allow development of such procedures. Identification of NRBCs ...
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Recent reports have indicated that digital PCR may be useful for the noninvasive detection of fetal aneuploidies by the analysis of cell-free DNA and RNA in maternal plasma or serum. In this review we provide an insight into the underlying technology and its previous application in the determination of the allelic frequencies of oncogenic alterations in cancer specimens. We also provide an indi...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2011
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2011.165563