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Volumn 36, Issue 3, 2016, Pages 237-243

Noninvasive prenatal testing in the general obstetric population: Clinical performance and counseling considerations in over 85000 cases

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; FEMALE; GESTATIONAL AGE; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; NON INVASIVE PROCEDURE; PATIENT COUNSELING; PATIENT INFORMATION; PREDICTIVE VALUE; PREGNANCY; PRENATAL SCREENING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TRISOMY 13; TRISOMY 18; TRISOMY 21; TURNAROUND TIME; ADOLESCENT; COUNSELING; EPIDEMIOLOGY; GENETIC SCREENING; MIDDLE AGED; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PROCEDURES; STANDARDS; STATISTICS AND NUMERICAL DATA; YOUNG ADULT;

EID: 84960081693     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4766     Document Type: Article
Times cited : (60)

References (29)
  • 1
    • 84864408781 scopus 로고    scopus 로고
    • Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
    • 137e1-137e8
    • Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207(2):137.e1-8.
    • (2012) Am J Obstet Gynecol , vol.207 , Issue.2
    • Norton, M.E.1    Brar, H.2    Weiss, J.3
  • 2
    • 84857868297 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
    • Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14(3):296-305.
    • (2012) Genet Med , vol.14 , Issue.3 , pp. 296-305
    • Palomaki, G.E.1    Deciu, C.2    Kloza, E.M.3
  • 3
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
    • Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13(11):913-20.
    • (2011) Genet Med , vol.13 , Issue.11 , pp. 913-920
    • Palomaki, G.E.1    Kloza, E.M.2    Lambert-Messerlian, G.M.3
  • 4
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119(5):890-901.
    • (2012) Obstet Gynecol , vol.119 , Issue.5 , pp. 890-901
    • Bianchi, D.W.1    Platt, L.D.2    Goldberg, J.D.3
  • 5
    • 84877926367 scopus 로고    scopus 로고
    • Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors
    • Devers PL, Cronister A, Ormond KE, et al. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Couns 2013;22(3):291-95.
    • (2013) J Genet Couns , vol.22 , Issue.3 , pp. 291-295
    • Devers, P.L.1    Cronister, A.2    Ormond, K.E.3
  • 6
    • 84877253478 scopus 로고    scopus 로고
    • ACMG statement on noninvasive prenatal screening for fetal aneuploidy
    • Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013;15(5):395-98.
    • (2013) Genet Med , vol.15 , Issue.5 , pp. 395-398
    • Gregg, A.R.1    Gross, S.J.2    Best, R.G.3
  • 7
    • 85001725053 scopus 로고    scopus 로고
    • Scientific Impact Paper No. 15: non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA
    • Soothill PW, Lo YMD. Scientific Impact Paper No. 15: non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA. Royal Coll Obstet Gynaecol 2014;1-14.
    • (2014) Royal Coll Obstet Gynaecol , pp. 1-14
    • Soothill, P.W.1    Lo, Y.M.D.2
  • 8
    • 84939629649 scopus 로고    scopus 로고
    • Cell-free DNA screening for fetal aneuploidy
    • Committee Opinion No. 640
    • Committee Opinion No. 640. Cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015;126(3):e31-e7.
    • (2015) Obstet Gynecol , vol.126 , Issue.3 , pp. e31-e37
  • 9
    • 84938751857 scopus 로고    scopus 로고
    • Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
    • Benn P, Borrell A, Chiu RW, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 2015;35(8):725-34.
    • (2015) Prenat Diagn , vol.35 , Issue.8 , pp. 725-734
    • Benn, P.1    Borrell, A.2    Chiu, R.W.3
  • 10
    • 84878120833 scopus 로고    scopus 로고
    • Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
    • Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013;33(6):569-74.
    • (2013) Prenat Diagn , vol.33 , Issue.6 , pp. 569-574
    • Futch, T.1    Spinosa, J.2    Bhatt, S.3
  • 11
    • 84922478203 scopus 로고    scopus 로고
    • Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology
    • Bianchi DW, Parsa S, Bhatt S, et al. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol 2015;125(2):375-82.
    • (2015) Obstet Gynecol , vol.125 , Issue.2 , pp. 375-382
    • Bianchi, D.W.1    Parsa, S.2    Bhatt, S.3
  • 12
    • 84908296065 scopus 로고    scopus 로고
    • Clinical experience and follow-up with large scale single-nucleotide polymorphism-based non-invasive prenatal aneuploidy testing
    • 527e1-52717
    • Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based non-invasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014;211(5):527.e1-17.
    • (2014) Am J Obstet Gynecol , vol.211 , Issue.5
    • Dar, P.1    Curnow, K.J.2    Gross, S.J.3
  • 13
    • 84907717938 scopus 로고    scopus 로고
    • Non-invasive prenatal chromosomal aneuploidy testing-clinical experience: 100,000 clinical samples
    • McCullough RM, Almasri EA, Guan X, et al. Non-invasive prenatal chromosomal aneuploidy testing-clinical experience: 100, 000 clinical samples. PLoS One 2014;9(10):e109173.
    • (2014) PLoS One , vol.9 , Issue.10 , pp. e109173
    • McCullough, R.M.1    Almasri, E.A.2    Guan, X.3
  • 14
    • 84905091660 scopus 로고    scopus 로고
    • A single center's experience with noninvasive prenatal testing
    • Beamon CJ, Hardisty EE, Harris SC, et al. A single center's experience with noninvasive prenatal testing. Genet Med 2014;16(9):681-87.
    • (2014) Genet Med , vol.16 , Issue.9 , pp. 681-687
    • Beamon, C.J.1    Hardisty, E.E.2    Harris, S.C.3
  • 15
    • 84878150323 scopus 로고    scopus 로고
    • Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population
    • Fairbrother G, Johnson S, Musci TJ, et al. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn 2013;33(6):580-83.
    • (2013) Prenat Diagn , vol.33 , Issue.6 , pp. 580-583
    • Fairbrother, G.1    Johnson, S.2    Musci, T.J.3
  • 16
    • 84928470965 scopus 로고    scopus 로고
    • Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases
    • Wang JC, Sahoo T, Schonberg S, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med 2014;17(3):234-36.
    • (2014) Genet Med , vol.17 , Issue.3 , pp. 234-236
    • Wang, J.C.1    Sahoo, T.2    Schonberg, S.3
  • 17
    • 84927950867 scopus 로고    scopus 로고
    • The first 3,000 non-invasive prenatal tests (NIPT) with the harmony test in Belgium and the Netherlands
    • Willems PJ, Dierickx H, Vandenakker E, et al. The first 3, 000 non-invasive prenatal tests (NIPT) with the harmony test in Belgium and the Netherlands. Facts Views Vis Obgyn 2014;6(1):7-12.
    • (2014) Facts Views Vis Obgyn , vol.6 , Issue.1 , pp. 7-12
    • Willems, P.J.1    Dierickx, H.2    Vandenakker, E.3
  • 18
    • 84914813271 scopus 로고    scopus 로고
    • Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection
    • Wax JR, Cartin A, Chard R, et al. Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection. J Clin Ultrasound 2015;43(1):1-6.
    • (2015) J Clin Ultrasound , vol.43 , Issue.1 , pp. 1-6
    • Wax, J.R.1    Cartin, A.2    Chard, R.3
  • 19
    • 85026981620 scopus 로고    scopus 로고
    • Abnormal non-invasive prenatal testing results: what do they mean?
    • [accessed on 25 February 2015]
    • National Society of Genetic Counselors. Abnormal non-invasive prenatal testing results: what do they mean? 2015. Available at: http://nsgc.org/page/abnormal-non-invasive-prenatal-testing-results [accessed on 25 February 2015].
    • (2015)
  • 21
    • 84919424427 scopus 로고    scopus 로고
    • Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test
    • 79e1-79e9
    • Curnow KJ, Wilkins-Haug L, Ryan A, et al. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. Am J Obstet Gynecol 2015;212(1):79 e1-9.
    • (2015) Am J Obstet Gynecol , vol.212 , Issue.1
    • Curnow, K.J.1    Wilkins-Haug, L.2    Ryan, A.3
  • 22
    • 84870156368 scopus 로고    scopus 로고
    • Committee Opinion No. 545: noninvasive prenatal testing for fetal aneuploidy
    • American College of Obstetricians and Gynecologists. Committee Opinion No. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012;120(6):1532-34.
    • (2012) Obstet Gynecol , vol.120 , Issue.6 , pp. 1532-1534
  • 23
    • 84905093469 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort
    • Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014;124(2 Pt 1):210-18.
    • (2014) Obstet Gynecol , vol.124 , Issue.2 , pp. 210-218
    • Pergament, E.1    Cuckle, H.2    Zimmermann, B.3
  • 24
    • 84926492837 scopus 로고    scopus 로고
    • Cell-free DNA analysis for noninvasive examination of trisomy
    • Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015. DOI:10.1056/NEJMoa1407349.
    • (2015) N Engl J Med
    • Norton, M.E.1    Jacobsson, B.2    Swamy, G.K.3
  • 25
    • 84896691791 scopus 로고    scopus 로고
    • DNA sequencing versus standard prenatal aneuploidy screening
    • Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370(9):799-808.
    • (2014) N Engl J Med , vol.370 , Issue.9 , pp. 799-808
    • Bianchi, D.W.1    Parker, R.L.2    Wentworth, J.3
  • 26
    • 84905571246 scopus 로고    scopus 로고
    • Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results
    • Grati FR, Malvestiti F, Ferreira JC, et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med 2014;16(8):620-24.
    • (2014) Genet Med , vol.16 , Issue.8 , pp. 620-624
    • Grati, F.R.1    Malvestiti, F.2    Ferreira, J.C.3
  • 27
    • 85026980433 scopus 로고    scopus 로고
    • Cell free DNA screening is not a simple blood test 2014
    • [accessed on 25 February 2015].
    • Society for Maternal Fetal Medicine. Cell free DNA screening is not a simple blood test 2014. Available at: https://www.smfm.org/publications/183-cell-free-dna-screening-is-not-a-simple-blood-test [accessed on 25 February 2015].
  • 28
    • 84880045096 scopus 로고    scopus 로고
    • Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
    • Benn P, Borell A, Chiu R, et al. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 2013;33(7):622-29.
    • (2013) Prenat Diagn , vol.33 , Issue.7 , pp. 622-629
    • Benn, P.1    Borell, A.2    Chiu, R.3
  • 29
    • 84862776853 scopus 로고    scopus 로고
    • Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011
    • Benn P, Borrell A, Cuckle H, et al. Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn 2012;32(1):1-2.
    • (2012) Prenat Diagn , vol.32 , Issue.1 , pp. 1-2
    • Benn, P.1    Borrell, A.2    Cuckle, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.