최소 단어 이상 선택하여야 합니다.
최대 10 단어까지만 선택 가능합니다.
다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기Journal of genetic medicine, v.12 no.2, 2015년, pp.72 - 78
Lee, Seung Yong (Bio-Core Co. Ltd.) , Hwang, Seung Yong (Bio-Core Co. Ltd.)
Recently, noninvasive prenatal test (NIPT) has been adopted as a primary screening tool for fetal chromosomal aneuploidy. The principle of NIPT lies in isolating the fetal fraction of cell-free DNA in maternal plasma and analyzing it with bioinformatic tools to measure the amount of gene from the ta...
* AI 자동 식별 결과로 적합하지 않은 문장이 있을 수 있으니, 이용에 유의하시기 바랍니다.
Bili C, Divane A, Apessos A, Konstantinos T, Apostolos A, Ioannis B, et al. Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR. Prenat Diagn 2002;22:360-5.
Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 2001;21:293-301.
Cuckle HS, van Lith JM. Appropriate biochemical parameters in firsttrimester screening for Down syndrome. Prenat Diagn 1999;19:505-12.
Hayes A, Batshaw ML. Down syndrome. Pediatr Clin North Am 1993;40:523-35.
Bianchi D, Larrabee P, Johnson K; assignees. Prenatal diagnosis using cell-free fetal DNA in amniotic fluid. US 10/577,341. 2004, Oct 29.
Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Populationbased analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003;111:777-84.
Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004;5:725-38.
Desai SS. Down syndrome: a review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997;84:279-85.
Green RF, Devine O, Crider KS, Olney RS, Archer N, Olshan AF, et al; National Birth Defects Prevention Study. Association of paternal age and risk for major congenital anomalies from the National Birth Defects Prevention Study, 1997 to 2004. Ann Epidemiol 2010;20:241-9.
Goldberg JD, Golbus MS. Chorionic villus sampling. Adv Hum Genet 1988;17:1-25.
Wapner RJ, Jackson L. Chorionic villus sampling. Clin Obstet Gynecol 1988;31:328-44.
Wegner RD, Toennies H. Chorionic villi sampling. In: Wegner RD, ed. Diagnostic cytogenetics. Berlin: Springer, 1999:231-47.
Alfirevic Z, Mujezinovic F, Sundberg K. Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review). Cochrane Database Syst Rev 2009;1:1-142.
Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007;110:687-94.
Tongsong T, Wanapirak C, Kunavikatikul C, Sirirchotiyakul S, Piyamongkol W, Chanprapaph P. Cordocentesis at 16-24 weeks of gestation: experience of 1,320 cases. Prenat Diagn 2000;20:224-8.
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7.
Pinheiro LB, Coleman VA, Hindson CM, Herrmann J, Hindson BJ, Bhat S, et al. Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification. Anal Chem 2012;84:1003-11.
Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.
Kubista M, Andrade JM, Bengtsson M, Forootan A, Jonak J, Lind K, et al. The real-time polymerase chain reaction. Mol Aspects Med 2006;27:95-125.
Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768-75.
Eisenstein BI. The polymerase chain reaction. A new method of using molecular genetics for medical diagnosis. N Engl J Med 1990;322:178-83.
Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci U S A 1999;96:9236-41.
Dube S, Qin J, Ramakrishnan R. Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device. PLoS One 2008;3:e2876.
Day E, Dear PH, McCaughan F. Digital PCR strategies in the development and analysis of molecular biomarkers for personalized medicine. Methods 2013;59:101-7.
Chiu RW, Lo YM. Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age. Semin Fetal Neonatal Med 2011;16:88-93.
Kotsopoulou I, Tsoplou P, Mavrommatis K, Kroupis C. Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis. Diagnosis 2015;2:141-58.
Twiss P, Hill M, Daley R, Chitty LS. Non-invasive prenatal testing for Down syndrome. Semin Fetal Neonatal Med 2014;19:9-14.
Vaiopoulos AG, Athanasoula KC, Papantoniou N, Kolialexi A. Review: advances in non-invasive prenatal diagnosis. In Vivo 2013;27:165-70.
Evans MI, Kilpatrick M. Noninvasive prenatal diagnosis: 2010. Clin Lab Med 2010;30:655-65.
Lo YM, Lun FM, Chan KC, Tsui NB, Chong KC, Lau TK, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A 2007;104:13116-21.
Fan HC, Blumenfeld YJ, El-Sayed YY, Chueh J, Quake SR. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. Am J Obstet Gynecol 2009;200:543.e1-7.
Evans MI, Wright DA, Pergament E, Cuckle HS, Nicolaides KH. Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility. Fetal Diagn Ther 2012;31:244-7.
Svobodova I, Pazourkova E, Horinek A, Novotna M, Calda P, Korabecna M. Performance of droplet digital PCR in non-invasive fetal RHD genotyping - Comparison with a routine real-time PCR based approach. PLoS One 2015;10:e0142572.
Debrand E, Lykoudi A, Bradshaw E, Allen SK. A non-invasive droplet digital PCR (ddPCR) assay to detect paternal CFTR mutations in the cell-free fetal DNA (cffDNA) of three pregnancies at risk of cystic fibrosis via compound heterozygosity. PLoS One 2015;10:e0142729.
Tsui NB, Hyland CA, Gardener GJ, Danon D, Fisk NM, Millard G, et al. Noninvasive fetal RHD genotyping by microfluidics digital PCR using maternal plasma from two alloimmunized women with the variant RHD(IVS3+1G>A) allele. Prenat Diagn 2013;33:1214-6.
Tsui NB, Kadir RA, Chan KC, Chi C, Mellars G, Tuddenham EG, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011;117:3684-91.
Sillence KA, Roberts LA, Hollands HJ, Thompson HP, Kiernan M, Madgett TE, et al. Fetal sex and RHD genotyping with digital PCR demonstrates greater sensitivity than real-time PCR. Clin Chem 2015;61:1399-407.
Ma J, Li N, Guarnera M, Jiang F. Quantification of plasma miRNAs by digital PCR for cancer diagnosis. Biomark Insights 2013;8:127-36.
Li M, Chen WD, Papadopoulos N, Goodman SN, Bjerregaard NC, Laurberg S, et al. Sensitive digital quantification of DNA methylation in clinical samples. Nat Biotechnol 2009;27:858-63.
Hindson BJ, Ness KD, Masquelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem 2011;83:8604-10.
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
오픈액세스 학술지에 출판된 논문
※ AI-Helper는 부적절한 답변을 할 수 있습니다.