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METHODS TO DETECT FALSE-POSITIVE DIAGNOSIS OF CHROMOSOMIC ANEUPLOIDIA IN A FETUS AND TO DETECT FALSE-POSITIVE ANEUPLOIDIAGNOSTIC ANEUPLOIDIA DIAGNOSIS IN A FETUS.
METHODS TO DETECT FALSE-POSITIVE DIAGNOSIS OF CHROMOSOMIC ANEUPLOIDIA IN A FETUS AND TO DETECT FALSE-POSITIVE ANEUPLOIDIAGNOSTIC ANEUPLOIDIA DIAGNOSIS IN A FETUS.
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机译：检测直肠中的染色体阳性假性假性假阳性并检测胎儿假性肛门假性淋巴结假性的方法。
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摘要
the present disclosure provides methods for non-invasive prenatal screening (nips) of fetal aneuploidies. the present methods are based on the analysis of cell-free fetal dna (dna cff) found in the circulation of a pregnant woman through next generation sequencing technology (ngs). in particular, the present methods analyze the relative abundance of different fetal genomic fragments present in the maternal sample, where the fragments can be aligned with particular chromosomal locations in the fetal genome. relative abundance information is indicative of whether a particular chromosome is overrepresented or underrepresented in a fetal genome when compared to normal individuals, and thus can be used to detect fetal aneuploidy. in addition, methods for increasing the positive predictive values (ppv) of nips by excluding false positive detections are also provided.
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