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publicationDate 2017-05-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2017074094-A1
titleOfInvention A method for prenatal diagnosis using digital pcr.
abstract The present invention relates to a method for prenatal diagnosis using digital PCR, and more particularly to a method for providing information for diagnosis of chromosomal aneuploidy in a fetus, comprising: (a) extracting DNAs from pregnant woman's blood; (b) classifying the DNAs according to size to obtain DNAs having a size of 1,000 bp or less; (c) performing digital PCR using the obtained DNAs of step (b), for a control gene located on a chromosome not associated with chromosomal aneuploidy and a target gene located on a chromosome associated with chromosomal aneuploidy; (d) calculating a ratio of a quantitative digital PCR value of the target gene to a quantitative digital PCR value of the control gene; and (e) determining that when the ratio calculated in step (d) is 0.70-1.14, a chromosome number of the fetus is normal.
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