Evaluating the results of the Momguard noninvasive prenatal test

Hu, Hae-Jin; Kwon, Young-Jun; Oh, Mijin; Kim, Jihun; Cho, Dae-Yeon; Seo, Dong-Hee

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자료유형: 학술저널

저자정보: 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)

저널정보: 대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제12권 제2호

발행연도: 2015.1

수록면: 96 - 99 (4page)

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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.

#Aneuploidy #Down syndrome #Trisomy 18 #Trisomy 13 syndrome #Prenatal screening

참고문헌 (18)

참고문헌 신청

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김솔잎 / 2007 / 국내 생화학적 표지자 산전선별검사 기초조사 보고 / Annals of Laboratory Medicine 27(1):28~33

이대영 / 2011 / 한국인 산모에서 다운증후군 산전선별검사로서의 통합선별검사의 유용성 평가 / Laboratory Medicine Online 1(1):10~18

Ghaffari SR / 2012 / First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β-hCG and PAPP-A: a 5-year prospective study / Ultrasound Obstet Gynecol 39:528~534

Lau TK / 2014 / Noninvasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA : review of 1982 consecutive cases in a single center / Ultrasound Obstet Gynecol 43:254~264

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