메뉴 건너뛰기




Volumn 292, Issue 3, 2015, Pages 543-548

Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center

Author keywords

Cell free fetal DNA; Fetal aneuploidies; NIPD; NIPT; Non invasive prenatal testing; Prenatal counseling; Trisomy 21

Indexed keywords

ADULT; ALGORITHM; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; FEMALE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; HIGH RISK PATIENT; HIGH RISK POPULATION; HIGH RISK PREGNANCY; HUMAN; INTERMEDIATE RISK POPULATION; INVASIVE PROCEDURE; LOW RISK POPULATION; MAJOR CLINICAL STUDY; NON INVASIVE PRENATAL TESTING; PREGNANCY TEST; PRENATAL SCREENING; REASSURANCE; RETROSPECTIVE STUDY; TERTIARY CARE CENTER; DNA SEQUENCE; DOWN SYNDROME; MATERNAL AGE; MATERNAL SERUM SCREENING TEST; PREGNANCY; PRENATAL CARE; PRENATAL DIAGNOSIS; PROCEDURES; RISK FACTOR;

EID: 84938747364     PISSN: 09320067     EISSN: 14320711     Source Type: Journal    
DOI: 10.1007/s00404-015-3674-5     Document Type: Article
Times cited : (22)

References (36)
  • 1
    • 84891814405 scopus 로고    scopus 로고
    • Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?
    • COI: 1:CAS:528:DC%2BC2cXpslemsA%3D%3D, PID: 24255077
    • Bianchi DW, Wilkins-Haug L (2014) Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem 60(1):78–87
    • (2014) Clin Chem , vol.60 , Issue.1 , pp. 78-87
    • Bianchi, D.W.1    Wilkins-Haug, L.2
  • 2
    • 84872943055 scopus 로고    scopus 로고
    • Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research
    • COI: 1:CAS:528:DC%2BC3sXjsFGqu7g%3D, PID: 23072857
    • Chiu RWK, Lo YMD (2013) Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research. Clin Chem Lab Med 51(1):197–204
    • (2013) Clin Chem Lab Med , vol.51 , Issue.1 , pp. 197-204
    • Chiu, R.W.K.1    Lo, Y.M.D.2
  • 3
    • 84925559144 scopus 로고    scopus 로고
    • A new era in noninvasive prenatal testing
    • PID: 24283244
    • Sehnert AJ, Rava RP, Bianchi DW (2013) A new era in noninvasive prenatal testing. N Engl J Med 369(22):2164–2165
    • (2013) N Engl J Med , vol.369 , Issue.22 , pp. 2164-2165
    • Sehnert, A.J.1    Rava, R.P.2    Bianchi, D.W.3
  • 4
    • 84891558177 scopus 로고    scopus 로고
    • Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women?
    • COI: 1:CAS:528:DC%2BC2cXjtVClsw%3D%3D, PID: 24002925
    • Bianchi DW, Oepkes D, Ghidini A (2014) Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women? Prenat Diagn 34(1):6–11
    • (2014) Prenat Diagn , vol.34 , Issue.1 , pp. 6-11
    • Bianchi, D.W.1    Oepkes, D.2    Ghidini, A.3
  • 5
    • 84901851768 scopus 로고    scopus 로고
    • Kombiniertes Ersttrimesterscreening und zellfreie fetale DNA: “Next Generation Screening
    • COI: 1:STN:280:DC%2BC2cnmsFalug%3D%3D, PID: 24764214
    • Kagan KO, Eiben B, Kozlowski P (2014) Kombiniertes Ersttrimesterscreening und zellfreie fetale DNA: “Next Generation Screening”. Ultraschall Med 35(3):229–236
    • (2014) Ultraschall Med , vol.35 , Issue.3 , pp. 229-236
    • Kagan, K.O.1    Eiben, B.2    Kozlowski, P.3
  • 6
    • 84908885359 scopus 로고    scopus 로고
    • Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities
    • PID: 24525399
    • Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH (2014) Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther 35(3):174–184
    • (2014) Fetal Diagn Ther , vol.35 , Issue.3 , pp. 174-184
    • Syngelaki, A.1    Pergament, E.2    Homfray, T.3    Akolekar, R.4    Nicolaides, K.H.5
  • 7
    • 84879498978 scopus 로고    scopus 로고
    • First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing
    • COI: 1:STN:280:DC%2BC3sjgs1Ortg%3D%3D, PID: 23744626
    • Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM (2013) First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 42(1):41–50
    • (2013) Ultrasound Obstet Gynecol , vol.42 , Issue.1 , pp. 41-50
    • Nicolaides, K.H.1    Wright, D.2    Poon, L.C.3    Syngelaki, A.4    Gil, M.M.5
  • 8
    • 84877926367 scopus 로고    scopus 로고
    • Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the national society of genetic counselors
    • PID: 23334531
    • Devers P, Cronister A, Ormond K, Facio F, Brasington C, Flodman P (2013) Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the national society of genetic counselors. J Genet Couns. 22(3):291–295
    • (2013) J Genet Couns. , vol.22 , Issue.3 , pp. 291-295
    • Devers, P.1    Cronister, A.2    Ormond, K.3    Facio, F.4    Brasington, C.5    Flodman, P.6
  • 9
    • 84880045096 scopus 로고    scopus 로고
    • Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
    • PID: 23616385
    • Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B et al (2013) Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 33(7):622–629
    • (2013) Prenat Diagn , vol.33 , Issue.7 , pp. 622-629
    • Benn, P.1    Borell, A.2    Chiu, R.3    Cuckle, H.4    Dugoff, L.5    Faas, B.6
  • 10
    • 84870156368 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal aneuploidy
    • Committee Opinion No. 545 (2012) Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 120(6):1532–1534
    • (2012) Obstet Gynecol , vol.120 , Issue.6 , pp. 1532-1534
  • 11
    • 67650222423 scopus 로고    scopus 로고
    • Prospective validation of first-trimester combined screening for trisomy 21
    • COI: 1:STN:280:DC%2BD1Mvmt1ygtg%3D%3D, PID: 19526452
    • Kagan KO, Etchegaray A, Zhou Y, Wright D, Nicolaides KH (2009) Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 34(1):14–18
    • (2009) Ultrasound Obstet Gynecol , vol.34 , Issue.1 , pp. 14-18
    • Kagan, K.O.1    Etchegaray, A.2    Zhou, Y.3    Wright, D.4    Nicolaides, K.H.5
  • 12
    • 58149347849 scopus 로고    scopus 로고
    • Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study
    • PID: 19039015
    • Ekelund CK, Jørgensen FS, Petersen OB, Sundberg K, Tabor A (2008) Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study. BMJ 337:a2547
    • (2008) BMJ , vol.337 , pp. 2547
    • Ekelund, C.K.1    Jørgensen, F.S.2    Petersen, O.B.3    Sundberg, K.4    Tabor, A.5
  • 13
    • 0141863495 scopus 로고    scopus 로고
    • First-trimester screening for trisomies 21 and 18
    • COI: 1:CAS:528:DC%2BD3sXotVGhs7c%3D, PID: 14534333
    • Wapner R, Thom E, Simpson JL, Pergament E, Silver R, Filkins K et al (2003) First-trimester screening for trisomies 21 and 18. N Engl J Med 349(15):1405–1413
    • (2003) N Engl J Med , vol.349 , Issue.15 , pp. 1405-1413
    • Wapner, R.1    Thom, E.2    Simpson, J.L.3    Pergament, E.4    Silver, R.5    Filkins, K.6
  • 14
    • 84860225854 scopus 로고    scopus 로고
    • The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age
    • COI: 1:STN:280:DC%2BC3Mjit1Sgug%3D%3D, PID: 20972947
    • Hagen A, Entezami M, Gasiorek-Wiens A, Albig M, Becker R, Knoll U et al (2011) The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age. Ultraschall Med 32(3):302–306
    • (2011) Ultraschall Med , vol.32 , Issue.3 , pp. 302-306
    • Hagen, A.1    Entezami, M.2    Gasiorek-Wiens, A.3    Albig, M.4    Becker, R.5    Knoll, U.6
  • 15
    • 0028216064 scopus 로고
    • Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening
    • COI: 1:STN:280:DyaK2c7otV2lsQ%3D%3D, PID: 7510852
    • Haddow JE, Palomaki GE, Knight GJ, Cunningham GC, Lustig LS, Boyd PA (1994) Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. N Engl J Med 330(16):1114–1118
    • (1994) N Engl J Med , vol.330 , Issue.16 , pp. 1114-1118
    • Haddow, J.E.1    Palomaki, G.E.2    Knight, G.J.3    Cunningham, G.C.4    Lustig, L.S.5    Boyd, P.A.6
  • 16
    • 20444493456 scopus 로고    scopus 로고
    • The impact of first-trimester screening on AMA patients’ uptake of invasive testing
    • PID: 15906421
    • Wray AM, Ghidini A, Alvis C, Hodor J, Landy HJ, Poggi SH (2005) The impact of first-trimester screening on AMA patients’ uptake of invasive testing. Prenat Diagn 25(5):350–353
    • (2005) Prenat Diagn , vol.25 , Issue.5 , pp. 350-353
    • Wray, A.M.1    Ghidini, A.2    Alvis, C.3    Hodor, J.4    Landy, H.J.5    Poggi, S.H.6
  • 17
    • 34247197666 scopus 로고    scopus 로고
    • Changing attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care center
    • COI: 1:STN:280:DC%2BD2s7os1ehsg%3D%3D, PID: 16596512
    • Geipel A, Daiss T, Katalinic A, Germer U, Kohl T, Krapp M et al (2007) Changing attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care center. Ultraschall Med 28(1):67–70
    • (2007) Ultraschall Med , vol.28 , Issue.1 , pp. 67-70
    • Geipel, A.1    Daiss, T.2    Katalinic, A.3    Germer, U.4    Kohl, T.5    Krapp, M.6
  • 18
    • 84876144522 scopus 로고    scopus 로고
    • Comparison of three first trimester screening algorithms for trisomy 21 with and without adjustment for maternal characteristics
    • PID: 22886467
    • Lüthgens K, Merz E, Hackelöer BJ, Thode C, Eiben B, Kagan KO (2013) Comparison of three first trimester screening algorithms for trisomy 21 with and without adjustment for maternal characteristics. Ultraschall Med 34(2):151–156
    • (2013) Ultraschall Med , vol.34 , Issue.2 , pp. 151-156
    • Lüthgens, K.1    Merz, E.2    Hackelöer, B.J.3    Thode, C.4    Eiben, B.5    Kagan, K.O.6
  • 19
    • 78650803485 scopus 로고    scopus 로고
    • Screening for fetal aneuploidies at 11 to 13 weeks
    • PID: 21210475
    • Nicolaides KH (2011) Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 31(1):7–15
    • (2011) Prenat Diagn , vol.31 , Issue.1 , pp. 7-15
    • Nicolaides, K.H.1
  • 20
    • 51949118174 scopus 로고    scopus 로고
    • First-trimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics
    • COI: 1:STN:280:DC%2BD1c3otVWqtA%3D%3D, PID: 18432600
    • Kagan KO, Wright D, Spencer K, Molina FS, Nicolaides KH (2008) First-trimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet Gynecol 31(5):493–502
    • (2008) Ultrasound Obstet Gynecol , vol.31 , Issue.5 , pp. 493-502
    • Kagan, K.O.1    Wright, D.2    Spencer, K.3    Molina, F.S.4    Nicolaides, K.H.5
  • 21
    • 84871192643 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
    • Chiu R, Akolekar R, Zheng YWL, Leung T, Sun H, Chan K et al (2011) Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 432:c7401
    • (2011) BMJ , vol.432 , pp. 7401
    • Chiu, R.1    Akolekar, R.2    Zheng, Y.W.L.3    Leung, T.4    Sun, H.5    Chan, K.6
  • 22
    • 79952302397 scopus 로고    scopus 로고
    • Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
    • Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R et al (2011) Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 204(205):e1–e11
    • (2011) Am J Obstet Gynecol , vol.204 , Issue.205 , pp. 1-11
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3    Tynan, J.A.4    Cagasan, L.5    Tim, R.6
  • 23
    • 84859361254 scopus 로고    scopus 로고
    • Non-invasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
    • PID: 22464072
    • Sparks AB, Struble CA, Wang ET, Song K, Oliphant A (2012) Non-invasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 206(322):e1–e5
    • (2012) Am J Obstet Gynecol , vol.206 , Issue.322 , pp. 1-5
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3    Song, K.4    Oliphant, A.5
  • 25
    • 79959937504 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    • COI: 1:CAS:528:DC%2BC3MXpsVamsb4%3D, PID: 21755002
    • Chen E, Chiu RWK, Sun H, Akolekar R, Chan K, Leung T et al (2011) Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 6(7):e21791
    • (2011) PLoS ONE , vol.6 , Issue.7 , pp. 21791
    • Chen, E.1    Chiu, R.W.K.2    Sun, H.3    Akolekar, R.4    Chan, K.5    Leung, T.6
  • 27
    • 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
    • Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB et al (2012) 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 207:1–8
    • (2012) Am J Obstet Gynecol , vol.207 , pp. 1-8
    • Norton, M.E.1    Brar, H.2    Weiss, J.3    Karimi, A.4    Laurent, L.C.5    Caughey, A.B.6
  • 28
    • 84880039886 scopus 로고    scopus 로고
    • A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood
    • COI: 1:CAS:528:DC%2BC3sXhtVKrs7zJ, PID: 23592076
    • Guex N, Iseli C, Syngelaki A, Deluen C, Pescia G, Nicolaides KH et al (2013) A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn 33(7):707–710
    • (2013) Prenat Diagn , vol.33 , Issue.7 , pp. 707-710
    • Guex, N.1    Iseli, C.2    Syngelaki, A.3    Deluen, C.4    Pescia, G.5    Nicolaides, K.H.6
  • 29
    • 84908870735 scopus 로고    scopus 로고
    • Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis
    • COI: 1:STN:280:DC%2BC2cvjslGkuw%3D%3D, PID: 24513694
    • Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH (2014) Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 35(3):156–173
    • (2014) Fetal Diagn Ther , vol.35 , Issue.3 , pp. 156-173
    • Gil, M.M.1    Akolekar, R.2    Quezada, M.S.3    Bregant, B.4    Nicolaides, K.H.5
  • 30
    • 84859894558 scopus 로고    scopus 로고
    • Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
    • COI: 1:CAS:528:DC%2BC38XlvV2kurY%3D, PID: 22234154
    • Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V et al (2012) Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 20(5):521–526
    • (2012) Eur J Hum Genet , vol.20 , Issue.5 , pp. 521-526
    • Wellesley, D.1    Dolk, H.2    Boyd, P.A.3    Greenlees, R.4    Haeusler, M.5    Nelen, V.6
  • 31
    • 84878125815 scopus 로고    scopus 로고
    • Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening
    • PID: 23592525
    • Chetty S, Garabedian MJ, Norton ME (2013) Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 33(6):542–546
    • (2013) Prenat Diagn , vol.33 , Issue.6 , pp. 542-546
    • Chetty, S.1    Garabedian, M.J.2    Norton, M.E.3
  • 32
    • 84906792092 scopus 로고    scopus 로고
    • The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine
    • PID: 24338115
    • Friel LA, Czerwinski JL, Singletary CN (2014) The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine. Am J Perinatol 31(9):759–764
    • (2014) Am J Perinatol , vol.31 , Issue.9 , pp. 759-764
    • Friel, L.A.1    Czerwinski, J.L.2    Singletary, C.N.3
  • 33
    • 33644856913 scopus 로고    scopus 로고
    • Relation between increased fetal nuchal translucency thickness and chromosomal defects
    • PID: 16394033
    • Kagan KO, Avgidou K, Molina FS, Gajewska K, Nicolaides KH (2006) Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol 107(1):6–10
    • (2006) Obstet Gynecol , vol.107 , Issue.1 , pp. 6-10
    • Kagan, K.O.1    Avgidou, K.2    Molina, F.S.3    Gajewska, K.4    Nicolaides, K.H.5
  • 35
    • 84907687890 scopus 로고    scopus 로고
    • Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States
    • Platt LD, Janicki MB, Prosen T, Goldberg JD, Adashek J, Figueroa R et al (2014) Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States. Am J Obstet Gynecol 211(4):368.e1–368.e7
    • (2014) Am J Obstet Gynecol , vol.211 , Issue.4
    • Platt, L.D.1    Janicki, M.B.2    Prosen, T.3    Goldberg, J.D.4    Adashek, J.5    Figueroa, R.6
  • 36
    • 84879498242 scopus 로고    scopus 로고
    • Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies
    • COI: 1:STN:280:DC%2BC3sjgt1amsg%3D%3D, PID: 23744609
    • Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH (2013) Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 42(1):34–40
    • (2013) Ultrasound Obstet Gynecol , vol.42 , Issue.1 , pp. 34-40
    • Gil, M.M.1    Quezada, M.S.2    Bregant, B.3    Ferraro, M.4    Nicolaides, K.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.