Journal of Genetic Medicine

  • 제12권2호
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  • Pages.96-99
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  • 2015
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Evaluating the results of the Momguard noninvasive prenatal test

  • Hu, Hae-Jin (LabGenomics Clinical Research Institute, LabGenomics) ;
  • Kwon, Young-Jun (LabGenomics Clinical Research Institute, LabGenomics) ;
  • Oh, Mijin (LabGenomics Clinical Research Institute, LabGenomics) ;
  • Kim, Jihun (LabGenomics Clinical Research Institute, LabGenomics) ;
  • Cho, Dae-Yeon (LabGenomics Clinical Research Institute, LabGenomics) ;
  • Seo, Dong-Hee (LabGenomics Clinical Research Institute, LabGenomics)
  • 투고 : 2015.12.02
  • 심사 : 2015.12.14
  • 발행 : 2015.12.31
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초록

Purpose: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. Materials and Methods: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. Results: Among the 38 cases with 'screen positive' results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. Conclusion: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples.

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참고문헌

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