지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 340 - 345 (6page)
이용수
초록· 키워드
오류제보하기
Objective To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, andsex-chromosome abnormalities recently developed in Korea.
Methods This preliminary study formed part of a large prospective cohort study conducted at Asan Medical Center, Seoul, Korea.
Only pregnant women who underwent both NIPT and confirmatory karyotyping were included in this study. NIPTresults were compared with those of karyotype analyses.
Results Among 93 eligible cases, NIPT results could not be obtained in one case due to a low fetal cell-free DNA fraction. Basedon NIPT, eight cases of fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified. For T21 andT18, the sensitivity and specificity of NIPT were both 100%, with a false-positive and false-negative rate of 0% and apositive-predictive value of 100%. One patient classified as having intermediate risk for T13 by NIPT was confirmedto have T13 by karyotyping, and there were no false-negative cases. No cases of sex-chromosome anomalies weredetected by NIPT or karyotyping during the study period.
Conclusion Momguard is a reliable screening tool for detecting T21 and T18. For T13 and sex-chromosome anomalies, furtherprospective studies are necessary to confirm its utility.
목차
등록된 정보가 없습니다.
참고문헌 (18)
참고문헌 신청
Agarwal A. / 2013 / Commercial landscape of noninvasive prenatal testing in the United States / Prenat Diagn 33 : 521 ~ 531
American College of Obstetricians and Gynecologists. / 2007 / ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy / Obstet Gynecol 110 : 14
Benn P. / 2013 / Non-invasive prenatal testing for aneuploidy : current status and future prospects / Ultrasound Obstet Gynecol 42 : 15 ~ 33
Chiu RW. / 2008 / Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma / Proc Natl Acad Sci U S
Daley R. / 2014 / Non-invasive prenatal diagnosis: progress and potential / Arch Dis Child Fetal Neonatal Ed 99 : F426 ~ F430
American College of Obstetricians and Gynecologists. / 2007 / ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy / Obstet Gynecol 110 : 14
Benn P. / 2013 / Non-invasive prenatal testing for aneuploidy : current status and future prospects / Ultrasound Obstet Gynecol 42 : 15 ~ 33
Chiu RW. / 2008 / Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma / Proc Natl Acad Sci U S
Daley R. / 2014 / Non-invasive prenatal diagnosis: progress and potential / Arch Dis Child Fetal Neonatal Ed 99 : F426 ~ F430
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