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News - DNA sequencing versus standard prenatal aneuploidy screening
Chromosome- trisomy.jpg
"In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. ...In a general obstetrical population, prenatal testing with the use of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than standard screening. (Funded by Illumina; ClinicalTrials.gov number, NCT01663350.)."

(More? Trisomy 21 | Trisomy 18 | Prenatal Diagnosis)

<pubmed>24571752</pubmed>| N Engl J Med.

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