http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
한성희,유재송,강명수,김영진,이경률,양영호 대한산부인과학회 2014 대한산부인과학회 학술대회 Vol.100 No.-
목적: To report the initial performance of massively parallel sequencing (MPS) based noninvasive prenatal fetal aneuploidy test based on cell-free DNA sequencing from maternal plasma in clinical setting in Korea. 방법: A total of 918 pregnant women were recurited, MPS-based NIPT was performed on remaining 910 cases. 5ml of blood samples were collected, sequenced in Shenzhen BGI genomic laboratory to identify the aneuploidy. The risk of fetal aneuploidy was determined by L-score and T-score, classified test positive and test negative. NIPT results were compared against advanced maternal age(≥35), and conventional serum screening results. The results were validated by karyotyping for the Positive cases and Negative cases were follow-up. 결과: The mean maternal age was 35.2 years, 562 (61.4%) case were 35 years or above. The mean gestational age at blood sampling was 16 weeks. Resampling was 24(3%) cases, median reporting time was 12.7 days. 532 (41.7%) cases were received conventional serum screening test, in which 492 (92.4%) were screening positive, 11 (2%) cases were NIPT-positive. Sixteen (1.8%) cases were classified as test positive, including 8 cases of trisomy 21, 2 cases of trisomy 18, 1 case of trisomy 13, 2 case of 47,XXY, 1 case of 47,XYY, 1 case of 47,XXX, and 1 case of 45,X. With the karyotyping results and feedback of fetal outcome data, we observed no false positive and no false negative cases, indicating 100% sensitivity and 100% specificity for detection of fetal chromosomal aneuploidy. 결론: This study proved that MPS-based NIPT has high sensitivity and specificity in detection of fetal chromosomal aneuploidy. The introducion of this prenatal screening test into a clinical setting could reduce about 98% of unnecessary invasive diagnostic procedures.