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    • Trisomy 13 detection in the first trimester of pregnancy using a chromosome‐selective cell‐free DNA analysis method: Influence Statistics

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      Concepts for whichthey havehas direct influence:Trisomy 13,Dna analysis,Cases trisomy,Free dna,Cases risk,Human pair,Chromosomeselective sequencing,13 risk.

      Key People For Trisomy 13

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      Kypros Nicolaides Nicolaides†
      cervical length gestational age maternal factors
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      John C Carey
      neurofibromatosis type human pair birth defects
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      Jan M Friedman
      neurofibromatosis 1 birth defects united states
      #4
      Sonja A Rasmussen
      birth defects pregnant women united states
      #5
      Quanhe Yang
      united states heart age cardiovascular disease
      #6
      Kristin M May
      parental origin subtelomeric regions sex chromosome

      Trisomy 13 detection in the first trimester of pregnancy using a chromosome‐selective cell‐free DNA analysis method

      Abstract

      OBJECTIVE: To assess the performance of chromosome-selective sequencing of maternal plasma cell-free DNA (cfDNA) in non-invasive prenatal testing for trisomy 13.

      METHODS: Two-phase case-control study on a single plasma sample per case. The first phase was used to optimize the trisomy 13 algorithm, which was then applied to a second dataset to determine the risk score for trisomy 13 by laboratory personnel who were blinded to the fetal karyotype.

      RESULTS: In the first phase, trisomy 13 risk scores were given for 11 cases of trisomy 13 and 145 euploid cases at 11-13 weeks' gestation. The test identified seven (63.6%) cases of trisomy 13 with no false positives. The trisomy 13 algorithm was subsequently modified and the trisomy 13 risk score was > 99% in all 11 cases of trisomy 13 and < 0.01% in all 145 euploid cases. In the second phase, the new algorithm was used to generate trisomy 13 risk scores for 10 cases of trisomy 13 and 1939 euploid cases. The trisomy 13 risk scores were > 99% in eight (80.0% (95% confidence interval (CI), 49.0-94.3%)) cases of trisomy 13. In the 1939 euploid cases the risk score for trisomy 13 was < 0.01% in 1937 (99.9%), 0.79% in one, and > 99% in one. Therefore, at the predefined risk cut-off of 1% for classifying a sample as high or low risk, the false-positive rate (FPR) was 0.05% (95% CI, 0.0-0.3%).

      CONCLUSIONS: Chromosome-selective sequencing of cfDNA can detect the majority of cases of trisomy 13 at an FPR of less than 0.1%.

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