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Volumn 72, Issue 11, 2012, Pages 998-1003

Assessment of foetal DNA in maternal blood - A useful tool in the hands of prenatal specialists

Author keywords

first trimester screening; foetal DNA; trisomy; ultrasound

Indexed keywords

ANEUPLOIDY; DNA DETERMINATION; FIRST TRIMESTER PREGNANCY; GESTATIONAL AGE; HUMAN; MATERNAL BLOOD; MEDICAL SPECIALIST; NEWBORN SCREENING; NUCHAL TRANSLUCENCY MEASUREMENT; PHYSICIAN; PREECLAMPSIA; PREMATURE LABOR; PRENATAL PERIOD; REVIEW; SCREENING; TRISOMY 13; TRISOMY 18; TRISOMY 21;

EID: 84870769803     PISSN: 00165751     EISSN: 14388804     Source Type: Journal    
DOI: 10.1055/s-0032-1327960     Document Type: Review
Times cited : (9)

References (39)
  • 1
    • 79954998794 scopus 로고    scopus 로고
    • Turning the pyramid of prenatal care
    • Nicolaides K. H. Turning the pyramid of prenatal care. Fetal Diagn Ther: 2011; 29 183 196
    • (2011) Fetal Diagn Ther , vol.29 , pp. 183-196
    • Nicolaides, K.H.1
  • 2
    • 77955147909 scopus 로고    scopus 로고
    • Prevention of preeclampsia and intrauterine growth restriction with aspirin started in early pregnancy: A meta-analysis
    • Bujold E., Roberge S., Lacasse Y. et al. Prevention of preeclampsia and intrauterine growth restriction with aspirin started in early pregnancy: a meta-analysis. Obstet Gynecol: 2010; 116 2 Pt 1 402 414
    • (2010) Obstet Gynecol , vol.116 , Issue.2 PART 1 , pp. 402-414
    • Bujold, E.1    Roberge, S.2    Lacasse, Y.3
  • 3
    • 84861480719 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms
    • Stumm M., Entezami M., Trunk N. et al. Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms. Prenat Diagn: 2012; 32 569 577
    • (2012) Prenat Diagn , vol.32 , pp. 569-577
    • Stumm, M.1    Entezami, M.2    Trunk, N.3
  • 4
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo Y. M., Corbetta N., Chamberlain P. F. et al. Presence of fetal DNA in maternal plasma and serum. Lancet: 1997; 350 485 487
    • (1997) Lancet , vol.350 , pp. 485-487
    • Lo, Y.M.1    Corbetta, N.2    Chamberlain, P.F.3
  • 5
    • 84859153002 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis empowered by high-throughput sequencing
    • Chiu R. WK, Lo Y. MD. Noninvasive prenatal diagnosis empowered by high-throughput sequencing. Prenat Diagn: 2012; 32 401 406
    • (2012) Prenat Diagn , vol.32 , pp. 401-406
    • Chiu, R.W.1    Lo, Y.M.2
  • 6
    • 84862492435 scopus 로고    scopus 로고
    • Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks gestation: Effect of maternal and fetal factors
    • Ashoor G., Poon L., Syngelaki A. et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks gestation: effect of maternal and fetal factors. Fetal Diagn Ther: 2012; 31 237 243
    • (2012) Fetal Diagn Ther , vol.31 , pp. 237-243
    • Ashoor, G.1    Poon, L.2    Syngelaki, A.3
  • 7
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu R. WK, Chan K. CA, Gao Y. et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A: 2008; 105 20458 20463
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 20458-20463
    • Chiu, R.W.1    Chan, K.C.2    Gao, Y.3
  • 8
    • 84858996474 scopus 로고    scopus 로고
    • Diagnostic accuracy of noninvasive detection of fetal trisomy 21 in maternal blood: A systematic review
    • Verweij E. J., van den Oever J. ME, de Boer M. A. et al. Diagnostic accuracy of noninvasive detection of fetal trisomy 21 in maternal blood: a systematic review. Fetal Diagn Ther: 2012; 31 81 86
    • (2012) Fetal Diagn Ther , vol.31 , pp. 81-86
    • Verweij, E.J.1    Van Den Oever, J.M.2    De Boer, M.A.3
  • 9
    • 84868029481 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
    • Nicolaides K. H., Syngelaki A., Ashoor G. et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol: 2012; 207 374.e1 374.e6
    • (2012) Am J Obstet Gynecol , vol.207
    • Nicolaides, K.H.1    Syngelaki, A.2    Ashoor, G.3
  • 10
    • 77952749847 scopus 로고    scopus 로고
    • Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes
    • Grati F. R., Barlocco A., Grimi B. et al. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. Am J Med Genet: 2010; 152 1434 1442
    • (2010) Am J Med Genet , vol.152 , pp. 1434-1442
    • Grati, F.R.1    Barlocco, A.2    Grimi, B.3
  • 11
    • 49849095828 scopus 로고    scopus 로고
    • A mixture model of nuchal translucency thickness in screening for chromosomal defects
    • Wright D., Kagan K. O., Molina F. S. et al. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol: 2008; 31 376 383
    • (2008) Ultrasound Obstet Gynecol , vol.31 , pp. 376-383
    • Wright, D.1    Kagan, K.O.2    Molina, F.S.3
  • 12
    • 77951821475 scopus 로고    scopus 로고
    • Effect of deviation from the mid-sagittal plane on the measurement of fetal nuchal translucency
    • Abele H., Wagner N., Hoopmann M. et al. Effect of deviation from the mid-sagittal plane on the measurement of fetal nuchal translucency. Ultrasound Obstet Gynecol: 2010; 35 525 529
    • (2010) Ultrasound Obstet Gynecol , vol.35 , pp. 525-529
    • Abele, H.1    Wagner, N.2    Hoopmann, M.3
  • 13
    • 78650822014 scopus 로고    scopus 로고
    • Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks
    • Syngelaki A., Chelemen T., Dagklis T. et al. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks. Prenat Diagn: 2011; 31 90 102
    • (2011) Prenat Diagn , vol.31 , pp. 90-102
    • Syngelaki, A.1    Chelemen, T.2    Dagklis, T.3
  • 14
    • 78649605773 scopus 로고    scopus 로고
    • Enlarged nuchal translucency in chromosomally normal fetuses: Strong association with orofacial clefts
    • Timmerman E., Pajkrt E., Maas S. M. et al. Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts. Ultrasound Obstet Gynecol: 2010; 36 427 432
    • (2010) Ultrasound Obstet Gynecol , vol.36 , pp. 427-432
    • Timmerman, E.1    Pajkrt, E.2    Maas, S.M.3
  • 15
    • 84866547691 scopus 로고    scopus 로고
    • Zukünftige Entwicklung der Geburtsmedizin
    • 10.1007/s00129-012-2964-2
    • Kagan K. O., Hoopmann M., Abele H. et al. Zukünftige Entwicklung der Geburtsmedizin. Gynäkologe: 2012; 10.1007/s00129-012-2964-2
    • (2012) Gynäkologe
    • Kagan, K.O.1    Hoopmann, M.2    Abele, H.3
  • 16
    • 79955025795 scopus 로고    scopus 로고
    • Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects
    • Pereira S., Ganapathy R., Syngelaki A. et al. Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects. Obstet Gynecol: 2011; 117 1384 1391
    • (2011) Obstet Gynecol , vol.117 , pp. 1384-1391
    • Pereira, S.1    Ganapathy, R.2    Syngelaki, A.3
  • 17
    • 78650845186 scopus 로고    scopus 로고
    • Prediction of early, intermediate and late pre-eclampsia from maternal factors, biophysical and biochemical markers at 11-13 weeks
    • Akolekar R., Syngelaki A., Sarquis R. et al. Prediction of early, intermediate and late pre-eclampsia from maternal factors, biophysical and biochemical markers at 11-13 weeks. Prenat Diagn: 2011; 31 66 74
    • (2011) Prenat Diagn , vol.31 , pp. 66-74
    • Akolekar, R.1    Syngelaki, A.2    Sarquis, R.3
  • 18
    • 84860337957 scopus 로고    scopus 로고
    • First-trimester screening for spontaneous preterm delivery with maternal characteristics and cervical length
    • Greco E., Gupta R., Syngelaki A. et al. First-trimester screening for spontaneous preterm delivery with maternal characteristics and cervical length. Fetal Diagn Ther: 2012; 31 154 161
    • (2012) Fetal Diagn Ther , vol.31 , pp. 154-161
    • Greco, E.1    Gupta, R.2    Syngelaki, A.3
  • 19
    • 43949110285 scopus 로고    scopus 로고
    • Individual risk of fetal loss following routine second trimester amniocentesis: A controlled study of 20,460 cases
    • Kozlowski P., Knippel A., Stressig R. Individual risk of fetal loss following routine second trimester amniocentesis: a controlled study of 20,460 cases. Ultraschall Med: 2008; 29 165 172
    • (2008) Ultraschall Med , vol.29 , pp. 165-172
    • Kozlowski, P.1    Knippel, A.2    Stressig, R.3
  • 20
    • 76449093190 scopus 로고    scopus 로고
    • Update on procedure-related risks for prenatal diagnosis techniques
    • Tabor A., Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther: 2010; 27 1 7
    • (2010) Fetal Diagn Ther , vol.27 , pp. 1-7
    • Tabor, A.1    Alfirevic, Z.2
  • 21
    • 51949091028 scopus 로고    scopus 로고
    • Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A
    • Kagan K. O., Wright D., Baker A. et al. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol: 2008; 31 618 624
    • (2008) Ultrasound Obstet Gynecol , vol.31 , pp. 618-624
    • Kagan, K.O.1    Wright, D.2    Baker, A.3
  • 22
    • 58149523129 scopus 로고    scopus 로고
    • Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation
    • Kagan K. O., Valencia C., Livanos P. et al. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. Ultrasound Obstet Gynecol: 2009; 33 18 22
    • (2009) Ultrasound Obstet Gynecol , vol.33 , pp. 18-22
    • Kagan, K.O.1    Valencia, C.2    Livanos, P.3
  • 23
    • 66249094907 scopus 로고    scopus 로고
    • Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation
    • Maiz N., Valencia C., Kagan K. O. et al. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol: 2009; 33 512 517
    • (2009) Ultrasound Obstet Gynecol , vol.33 , pp. 512-517
    • Maiz, N.1    Valencia, C.2    Kagan, K.O.3
  • 24
    • 61849147473 scopus 로고    scopus 로고
    • Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation
    • Kagan K. O., Cicero S., Staboulidou I. et al. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol: 2009; 33 259 264
    • (2009) Ultrasound Obstet Gynecol , vol.33 , pp. 259-264
    • Kagan, K.O.1    Cicero, S.2    Staboulidou, I.3
  • 25
    • 67650222423 scopus 로고    scopus 로고
    • Prospective validation of first-trimester combined screening for trisomy 21
    • Kagan K. O., Etchegaray A., Zhou Y. et al. Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol: 2009; 34 14 18
    • (2009) Ultrasound Obstet Gynecol , vol.34 , pp. 14-18
    • Kagan, K.O.1    Etchegaray, A.2    Zhou, Y.3
  • 26
    • 54149092040 scopus 로고    scopus 로고
    • Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free-hCG and pregnancy-associated plasma protein-A
    • Kagan K. O., Wright D., Valencia C. et al. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free-hCG and pregnancy-associated plasma protein-A. Hum Reprod: 2008; 23 1968 1975
    • (2008) Hum Reprod , vol.23 , pp. 1968-1975
    • Kagan, K.O.1    Wright, D.2    Valencia, C.3
  • 27
    • 0037541122 scopus 로고    scopus 로고
    • Screening for chromosomal defects
    • Nicolaides K. H. Screening for chromosomal defects. Ultrasound Obstet Gynecol: 2003; 21 313 321
    • (2003) Ultrasound Obstet Gynecol , vol.21 , pp. 313-321
    • Nicolaides, K.H.1
  • 28
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • Fan H. C., Blumenfeld Y. J., Chitkara U. et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A: 2008; 105 16266 16271
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3
  • 29
    • 79959759113 scopus 로고    scopus 로고
    • Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
    • Sehnert A. J., Rhees B., Comstock D. et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem: 2011; 57 1042 1049
    • (2011) Clin Chem , vol.57 , pp. 1042-1049
    • Sehnert, A.J.1    Rhees, B.2    Comstock, D.3
  • 30
    • 78751683468 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study
    • Chiu R. WK, Akolekar R., Zheng Y. WL et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ: 2011; 342 c7401
    • (2011) BMJ , vol.342
    • Chiu, R.W.1    Akolekar, R.2    Zheng, Y.W.3
  • 31
    • 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. et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol: 2011; 204 205.e1 205.e11
    • (2011) Am J Obstet Gynecol , vol.204
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3
  • 32
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
    • Palomaki G. E., Kloza E. M., Lambert-Messerlian G. M. et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med: 2011; 13 913 920
    • (2011) Genet Med , vol.13 , pp. 913-920
    • Palomaki, G.E.1    Kloza, E.M.2    Lambert-Messerlian, G.M.3
  • 33
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    • Sparks A. B., Wang E. T., Struble C. A. et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn: 2012; 32 3 9
    • (2012) Prenat Diagn , vol.32 , pp. 3-9
    • Sparks, A.B.1    Wang, E.T.2    Struble, C.A.3
  • 34
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • Bianchi D. W., Platt L. D., Goldberg J. D. et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol: 2012; 119 890 901
    • (2012) Obstet Gynecol , vol.119 , pp. 890-901
    • Bianchi, D.W.1    Platt, L.D.2    Goldberg, J.D.3
  • 35
    • 84859361254 scopus 로고    scopus 로고
    • Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: Evaluation for trisomy 21 and trisomy 18
    • Sparks A. B., Struble C. A., Wang E. T. et al. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol: 2012; 206 319.e1 319.e9
    • (2012) Am J Obstet Gynecol , vol.206
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3
  • 36
    • 78649586753 scopus 로고    scopus 로고
    • First-trimester combined screening for trisomy 21 at 7-14 weeks gestation
    • Wright D., Spencer K., Kagan K. K. et al. First-trimester combined screening for trisomy 21 at 7-14 weeks gestation. Ultrasound Obstet Gynecol: 2010; 36 404 411
    • (2010) Ultrasound Obstet Gynecol , vol.36 , pp. 404-411
    • Wright, D.1    Spencer, K.2    Kagan, K.K.3
  • 37
    • 23644443542 scopus 로고    scopus 로고
    • Down syndrome screening in the first and/or second trimester: Model predicted performance using meta-analysis parameters
    • Cuckle H. H., Benn P. P., Wright D. D. Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters. Semin Perinatol: 2005; 29 252 257
    • (2005) Semin Perinatol , vol.29 , pp. 252-257
    • Cuckle, H.H.1    Benn, P.P.2    Wright, D.D.3
  • 38
    • 79951956909 scopus 로고    scopus 로고
    • Pränatale Diagnostik des Smith-Lemli-Opitz-Syndroms
    • Hoopmann M., Abele H., Dufke A. et al. Pränatale Diagnostik des Smith-Lemli-Opitz-Syndroms. Geburtshilfe Frauenheilkd: 2011; 71 128 131
    • (2011) Geburtshilfe Frauenheilkd , vol.71 , pp. 128-131
    • Hoopmann, M.1    Abele, H.2    Dufke, A.3
  • 39
    • 80053172245 scopus 로고    scopus 로고
    • Predictive value of plasma total carnitine, arginine, asymmetric dimethylarginine and ischemia-modified albumin levels and their combined use in the early detection of preeclampsia
    • Osmanaǧaoǧlu M. A., Caner Karahan S., Aran T. et al. Predictive value of plasma total carnitine, arginine, asymmetric dimethylarginine and ischemia-modified albumin levels and their combined use in the early detection of preeclampsia. Geburtsh Frauenheilk: 2011; 71 773 778
    • (2011) Geburtsh Frauenheilk , vol.71 , pp. 773-778
    • Osmanaǧaoǧlu, M.A.1    Caner Karahan, S.2    Aran, T.3


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