학술논문
Evaluating the results of the Momguard noninvasive prenatal test
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- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Hae-Jin Hu Young-Jun Kwon Mijin Oh Jihun Kim Dae-Yeon Cho Dong-Hee Seo
- 간행물 정보
- 『대한의학유전학회지』제12권 제2호, 96~99쪽, 전체 4쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2015.12.31
4,000원
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국문 초록
영문 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
목차
해당간행물 수록 논문
- Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination
- Application of digital polymerase chain reaction technology for noninvasive prenatal test
- Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX
- Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery
- Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication
- Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAtargeted next-generation sequencing
- Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cellfree fetal DNA in maternal plasma
- Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea
- Advantages of the single nucleotide polymorphismbased noninvasive prenatal test
- Evaluating the results of the Momguard noninvasive prenatal test
- Whole genome sequencing based noninvasive prenatal test
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