메뉴 건너뛰기




Volumn 2, Issue 6, 2002, Pages 605-615

Prenatal genetic diagnosis of Down's syndrome

Author keywords

Amniocentesis; Chorionic villus sampling; Comparative genomic hybridization; Cytogenitics; Down's syndrome; Fetal ultrasound; Fluorescence in situ hybridization; Maternal serum screening; PCR; Prenatal diagnosis

Indexed keywords

AMNIOCENTESIS; BIRTH DEFECT; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; DOWN SYNDROME; FETUS ECHOGRAPHY; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; MATERNAL AGE; MENTAL DEFICIENCY; MOLECULAR GENETICS; PRENATAL DIAGNOSIS; PRENATAL SCREENING; REVIEW; CHROMOSOME 21; DIAGNOSTIC PROCEDURE; ECHOGRAPHY; FEMALE; FETUS DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; GENETICS; METHODOLOGY; NUCLEIC ACID HYBRIDIZATION; PREGNANCY; PRENATAL DEVELOPMENT; TRISOMY;

EID: 0036855209     PISSN: 14737159     EISSN: None     Source Type: Journal    
DOI: 10.1586/14737159.2.6.605     Document Type: Review
Times cited : (7)

References (78)
  • 1
    • 0033740930 scopus 로고    scopus 로고
    • Efficacy of screening for fetal Down's syndrome in the United States from 1974 to 1997
    • Egan JF, Benn P, Borgida AF, Rodis JF, Campbell WA, Vintzileos AM. Efficacy of screening for fetal Down's syndrome in the United States from 1974 to 1997. Obst. Gynecol. 96(6), 979-985 (2000). Documents the substantial changes in childbearing ages and the significance for Down's syndrome (DS) screening.
    • (2000) Obst. Gynecol. , vol.96 , Issue.6 , pp. 979-985
    • Egan, J.F.1    Benn, P.2    Borgida, A.F.3    Rodis, J.F.4    Campbell, W.A.5    Vintzileos, A.M.6
  • 2
    • 0002713457 scopus 로고    scopus 로고
    • Amniocentesis and fetal blood sampling
    • Milunsky A (Ed.). Johns Hopkins University Press, Baltimore, USA
    • Elias S, Simpson JL, Bombard AT. Amniocentesis and fetal blood sampling. In: Genetic Disorders and the Fetus. Milunsky A (Ed.). Johns Hopkins University Press, Baltimore, USA, 53-82 (1998).
    • (1998) Genetic Disorders and the Fetus , pp. 53-82
    • Elias, S.1    Simpson, J.L.2    Bombard, A.T.3
  • 3
    • 0001789081 scopus 로고    scopus 로고
    • Tului L Prenatal genetic diagnosis through chorionic villus sampling
    • Milunsky A (Ed.) Johns Hopkins University Press, Baltimore, USA
    • Brambati B, Tului L Prenatal genetic diagnosis through chorionic villus sampling. In: Genetic Disorders and the Fetus. Milunsky A (Ed.) Johns Hopkins University Press, Baltimore, USA, 150-178 (1998).
    • (1998) Genetic Disorders and the Fetus , pp. 150-178
    • Brambati, B.1
  • 4
    • 0023197081 scopus 로고
    • Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum α-fetoprotein level
    • Cuckle HS, Wald NJ, Thompson SG. Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum α-fetoprotein level. Br. J. Obstet. Gynaecol. 94(5), 387-402 (1987). Provides the maternal age-specific prevalence of DS used in many screening programs.
    • (1987) Br. J. Obstet. Gynaecol. , vol.94 , Issue.5 , pp. 387-402
    • Cuckle, H.S.1    Wald, N.J.2    Thompson, S.G.3
  • 5
    • 0032730221 scopus 로고    scopus 로고
    • Down's syndrome fetal loss rate in early pregnancy
    • Cuckle H. Down's syndrome fetal loss rate in early pregnancy. Prenat. Diagn. 19(12), 1177-1179 (1999).
    • (1999) Prenat. Diagn. , vol.19 , Issue.12 , pp. 1177-1179
    • Cuckle, H.1
  • 6
    • 0034102123 scopus 로고    scopus 로고
    • Survival of Down's syndrome in utero
    • Benn PA, Egan JF. Survival of Down's syndrome in utero. Prenat. Diagn. 20(5), 432-433 (2000).
    • (2000) Prenat. Diagn. , vol.20 , Issue.5 , pp. 432-433
    • Benn, P.A.1    Egan, J.F.2
  • 7
    • 0033023149 scopus 로고    scopus 로고
    • Fetal loss in Down's syndrome pregnancies
    • Morris JK, Wald NJ, Watt HC. Fetal loss in Down's syndrome pregnancies. Prenat. Diagn. 19(2), 142-145 (1999).
    • (1999) Prenat. Diagn. , vol.19 , Issue.2 , pp. 142-145
    • Morris, J.K.1    Wald, N.J.2    Watt, H.C.3
  • 8
    • 0006278032 scopus 로고
    • ACOG Committee opinion no 141. Washington DC, USA
    • American College of Obstetricians and Gynecologists. Down's Syndrome Screening. ACOG Committee opinion no 141. Washington DC, USA (1994).
    • (1994) Down's Syndrome Screening
  • 9
    • 0033034846 scopus 로고    scopus 로고
    • Predictive value of the triple screening test for the phenotype of Down's syndrome
    • Tanski S, Rosengren SS, Benn PA. Predictive value of the triple screening test for the phenotype of Down's syndrome. Am. J. Med. Genet. 85(2), 123-126 (1999).
    • (1999) Am. J. Med. Genet. , vol.85 , Issue.2 , pp. 123-126
    • Tanski, S.1    Rosengren, S.S.2    Benn, P.A.3
  • 10
    • 0035175413 scopus 로고    scopus 로고
    • Evaluation of effect of analytical imprecision in maternal serum screening for Down's syndrome
    • Benn PA, Collins R. Evaluation of effect of analytical imprecision in maternal serum screening for Down's syndrome. Ann. Clin. Biochem. 38(1), 28-36 (2001).
    • (2001) Ann. Clin. Biochem. , vol.38 , Issue.1 , pp. 28-36
    • Benn, P.A.1    Collins, R.2
  • 11
    • 0036067450 scopus 로고    scopus 로고
    • Advances in prenatal screening for Down's syndrome: I General principles and second trimester testing
    • Benn PA. Advances in prenatal screening for Down's syndrome: I General principles and second trimester testing. Clin. Chim. Acta 323(1-2), 1-16 (2002). Recent review article.
    • (2002) Clin. Chim. Acta , vol.323 , Issue.1-2 , pp. 1-16
    • Benn, P.A.1
  • 13
    • 0035142764 scopus 로고    scopus 로고
    • Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down's syndrome and trisomy 18 with adjustment for cross-identification and double-positive results
    • Benn PA, Ying J, Beazoglou T, Egan JF. Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down's syndrome and trisomy 18 with adjustment for cross-identification and double-positive results. Prenat. Diagn. 21(1), 46-51 (2001).
    • (2001) Prenat. Diagn. , vol.21 , Issue.1 , pp. 46-51
    • Benn, P.A.1    Ying, J.2    Beazoglou, T.3    Egan, J.F.4
  • 15
    • 0031089384 scopus 로고    scopus 로고
    • Inhibin-A in Down's syndrome pregnancies: Revised estimate of standard deviation
    • Wald NJ, Densem JW, George L et al. Inhibin-A in Down's syndrome pregnancies: Revised estimate of standard deviation. Prenat Diagn. 17(3), 285-290 (1997).
    • (1997) Prenat Diagn. , vol.17 , Issue.3 , pp. 285-290
    • Wald, N.J.1    Densem, J.W.2    George, L.3
  • 16
    • 0036257753 scopus 로고    scopus 로고
    • Second trimester ultrasound screening for chromosomal abnormalities
    • Shipp TD, Benacerraf BR. Second trimester ultrasound screening for chromosomal abnormalities. Prenat. Diagn. 22(4), 296-307 (2002). Comprehensive review of ultrasound criteria used for the identification of DS-affected pregnancies.
    • (2002) Prenat. Diagn. , vol.22 , Issue.4 , pp. 296-307
    • Shipp, T.D.1    Benacerraf, B.R.2
  • 17
    • 0035961570 scopus 로고    scopus 로고
    • Second-trimester ultrasound to detect fetuses with Down's syndrome: A meta-analysis
    • Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second-trimester ultrasound to detect fetuses with Down's syndrome: A meta-analysis. JAMA 285(8), 1044-1055 (2001). Meta-analysis of 56 articles spanning almost 20 years that recorded second trimester ultrasound findings, karyotype and outcomes.
    • (2001) JAMA , vol.285 , Issue.8 , pp. 1044-1055
    • Smith-Bindman, R.1    Hosmer, W.2    Feldstein, V.A.3    Deeks, J.J.4    Goldberg, J.D.5
  • 18
    • 0034986530 scopus 로고    scopus 로고
    • Sonographic markers for fetal trisomies: Second trimester
    • Nyberg DA, Souter VL. Sonographic markers for fetal trisomies: Second trimester. J. Ultrasound Med. 20(6), 655-674 (2001).
    • (2001) J. Ultrasound Med. , vol.20 , Issue.6 , pp. 655-674
    • Nyberg, D.A.1    Souter, V.L.2
  • 19
    • 0034789740 scopus 로고    scopus 로고
    • Isolated sonographic markers for detection of fetal Down's syndrome in the second trimester of pregnancy
    • Nyberg DA, Souter VL, El-Bastawissi A, Young S, Luthhardt F, Luthy DA. Isolated sonographic markers for detection of fetal Down's syndrome in the second trimester of pregnancy. J. Ultrasound Med. 20(10), 1053-1063 (2001).
    • (2001) J. Ultrasound Med. , vol.20 , Issue.10 , pp. 1053-1063
    • Nyberg, D.A.1    Souter, V.L.2    El-Bastawissi, A.3    Young, S.4    Luthhardt, F.5    Luthy, D.A.6
  • 20
    • 0036127663 scopus 로고    scopus 로고
    • Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21
    • Souter VL, Nyberg DA, El-Bastawissi A, Zebelman A, Luthhardt F, Luthy DA. Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21. Prenat. Diagn. 22(3), 175-182 (2002).
    • (2002) Prenat. Diagn. , vol.22 , Issue.3 , pp. 175-182
    • Souter, V.L.1    Nyberg, D.A.2    El-Bastawissi, A.3    Zebelman, A.4    Luthhardt, F.5    Luthy, D.A.6
  • 21
    • 0036897740 scopus 로고    scopus 로고
    • Combined second trimester biochemical and ultrasound screening for Down's syndrome
    • In Press
    • Benn PA, Kaminsky LM, Ying J, Borgida AF, Egan JF. Combined second trimester biochemical and ultrasound screening for Down's syndrome. Obstet Gynecol. 100(5), (2002) (In Press). Use of a screening strategy that integrates ultrasound findings with serum screening to produce a combined risk is presented.
    • (2002) Obstet Gynecol. , vol.100 , Issue.5
    • Benn, P.A.1    Kaminsky, L.M.2    Ying, J.3    Borgida, A.F.4    Egan, J.F.5
  • 22
    • 0033755648 scopus 로고    scopus 로고
    • Utilization of amniocentesis by women screening positive for Down's syndrome on the second-trimester triple test
    • Chen J, Heffley D, Beazoglou T, Benn P. Utilization of amniocentesis by women screening positive for Down's syndrome on the second-trimester triple test. Commun. Genet. 3(1), 24-30 (2000).
    • (2000) Commun. Genet. , vol.3 , Issue.1 , pp. 24-30
    • Chen, J.1    Heffley, D.2    Beazoglou, T.3    Benn, P.4
  • 24
    • 0025165471 scopus 로고
    • Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester
    • Szabó J, Gellén J. Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester. Lancet 336(8723), 1133 (1990).
    • (1990) Lancet , vol.336 , Issue.8723 , pp. 1133
    • Szabó, J.1    Gellén, J.2
  • 25
    • 0032146382 scopus 로고    scopus 로고
    • UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation
    • Fetal Medicine Foundation First Trimester Screening Group
    • Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 352(9125), 343-346 (1998). Substantial demonstration of first trimester screening using nuchal translucency.
    • (1998) Lancet , vol.352 , Issue.9125 , pp. 343-346
    • Snijders, R.J.1    Noble, P.2    Sebire, N.3    Souka, A.4    Nicolaides, K.H.5
  • 27
    • 0344326251 scopus 로고    scopus 로고
    • Appropriate biochemical parameters in first-trimester screening for Down's syndrome
    • Cuckle HS, Van Lith JM. Appropriate biochemical parameters in first-trimester screening for Down's syndrome. Prenat. Diagn. 19(6), 505-512 (1999). This meta-analysis determined the theoretical efficacy of a first trimester screening approach.
    • (1999) Prenat. Diagn. , vol.19 , Issue.6 , pp. 505-512
    • Cuckle, H.S.1    Van Lith, J.M.2
  • 28
    • 0036775261 scopus 로고    scopus 로고
    • Advances in prenatal screening for Down's syndrome: II First trimester testing and future directions
    • Benn PA. Advances in prenatal screening for Down's syndrome: II First trimester testing and future directions. Clin. Chim. Acta 324(1-2), 1-11 (2002). Recent review article.
    • (2002) Clin. Chim. Acta , vol.324 , Issue.1-2 , pp. 1-11
    • Benn, P.A.1
  • 29
    • 0032145555 scopus 로고    scopus 로고
    • Antenatal screening for Down's syndrome: Where are we and where next?
    • Haddow JE. Antenatal screening for Down's syndrome: Where are we and where next? Lancet 352(9125), 336-337 (1998).
    • (1998) Lancet , vol.352 , Issue.9125 , pp. 336-337
    • Haddow, J.E.1
  • 30
    • 0036796075 scopus 로고    scopus 로고
    • Increased nuchal translucency in fetuses with a normal karyotype
    • Hyett JA. Increased nuchal translucency in fetuses with a normal karyotype. Prenat. Diagn. 22(4), 864-868 (2002).
    • (2002) Prenat. Diagn. , vol.22 , Issue.4 , pp. 864-868
    • Hyett, J.A.1
  • 31
    • 0033795008 scopus 로고    scopus 로고
    • One stop clinic for assessment of risk for fetal anomalies: A report of the first year of prospective screening for chromosomal anomalies in the first trimester
    • Spencer K, Spencer CE, Power M, Moakes A, Nicolaides KH. One stop clinic for assessment of risk for fetal anomalies: A report of the first year of prospective screening for chromosomal anomalies in the first trimester. Br. J. Obstret. Gynaecol. 107(10), 1271-1275 (2000). Documents the success of a first trimester screening protocol.
    • (2000) Br. J. Obstret. Gynaecol. , vol.107 , Issue.10 , pp. 1271-1275
    • Spencer, K.1    Spencer, C.E.2    Power, M.3    Moakes, A.4    Nicolaides, K.H.5
  • 32
    • 0032406152 scopus 로고    scopus 로고
    • Economic evaluation of prenatal screening for Down's syndrome in the USA
    • Beazoglou T, Heffley D, Kyriopoulos J, Vintzileos A, Benn P. Economic evaluation of prenatal screening for Down's syndrome in the USA. Prenat. Diagn. 18(12), 1241-1252 (1998),
    • (1998) Prenat. Diagn. , vol.18 , Issue.12 , pp. 1241-1252
    • Beazoglou, T.1    Heffley, D.2    Kyriopoulos, J.3    Vintzileos, A.4    Benn, P.5
  • 33
    • 0033549839 scopus 로고    scopus 로고
    • Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters
    • Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N. Engl. J. Med. 341(7), 461-467 (1999).
    • (1999) N. Engl. J. Med. , vol.341 , Issue.7 , pp. 461-467
    • Wald, N.J.1    Watt, H.C.2    Hackshaw, A.K.3
  • 34
    • 0033549746 scopus 로고    scopus 로고
    • Prenatal screening for Down's syndrome - A search for the family's values
    • Copel JA, Bahado-Singh RO. Prenatal screening for Down's syndrome - A search for the family's values. N. Engl. J. Med. 341(7), 521-522 (1999).
    • (1999) N. Engl. J. Med. , vol.341 , Issue.7 , pp. 521-522
    • Copel, J.A.1    Bahado-Singh, R.O.2
  • 35
    • 0034925646 scopus 로고    scopus 로고
    • Integrating antenatal Down's syndrome screening
    • Cuckle H. Integrating antenatal Down's syndrome screening. Curr. Opin. Obst. Gynecol. 13(2), 175-181 (2001).
    • (2001) Curr. Opin. Obst. Gynecol. , vol.13 , Issue.2 , pp. 175-181
    • Cuckle, H.1
  • 36
    • 0032542797 scopus 로고    scopus 로고
    • Early amniocentesis for biochemical genetic prenatal diagnosis
    • Toone JR, Applegarth DA, Vallance HD, Wilson RD. Early amniocentesis for biochemical genetic prenatal diagnosis. Lancet 351(9110), 1207-1208 (1998).
    • (1998) Lancet , vol.351 , Issue.9110 , pp. 1207-1208
    • Toone, J.R.1    Applegarth, D.A.2    Vallance, H.D.3    Wilson, R.D.4
  • 38
    • 0033776886 scopus 로고    scopus 로고
    • Neonatal outcome of preimplantation genetic diagnosis by polar body removal: The first 109 infants
    • Strom CM, Levin R, Strom S, Masciangelo C, Kuliev A, Verlinsky Y. Neonatal outcome of preimplantation genetic diagnosis by polar body removal: The first 109 infants. Pediatr. 106(4), 650-653 (2000). This follow-up report demonstrates the clinical utility of preimplantation genetic diagnosis (PGD).
    • (2000) Pediatr. , vol.106 , Issue.4 , pp. 650-653
    • Strom, C.M.1    Levin, R.2    Strom, S.3    Masciangelo, C.4    Kuliev, A.5    Verlinsky, Y.6
  • 39
    • 0035936005 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis by comparative genomic hybridization
    • Elias S. Preimplantation genetic diagnosis by comparative genomic hybridization. N. Engl. J. Med. 345(21), 1569-1571 (2001).
    • (2001) N. Engl. J. Med. , vol.345 , Issue.21 , pp. 1569-1571
    • Elias, S.1
  • 40
    • 0033113762 scopus 로고    scopus 로고
    • Papers from the 8th annual meeting of the International Working Group on Preimplantation Genetics, in association with the 9th International Conference on Prenatal Diagnosis and Therapy
    • CA, USA
    • Papers from the 8th annual meeting of the International Working Group on Preimplantation Genetics, in association with the 9th International Conference on Prenatal Diagnosis and Therapy. CA, USA, J. Assist. Reprod. Genet. 16(4), 161-220 (1999).
    • (1999) J. Assist. Reprod. Genet. , vol.16 , Issue.4 , pp. 161-220
  • 41
    • 0034809705 scopus 로고    scopus 로고
    • Aspects of biopsy procedures prior to preimplantation genetic diagnosis
    • De Vos A, Van Steirteghem A. Aspects of biopsy procedures prior to preimplantation genetic diagnosis. Prenat. Diagn. 21(9), 767-780 (2001).
    • (2001) Prenat. Diagn. , vol.21 , Issue.9 , pp. 767-780
    • De Vos, A.1    Van Steirteghem, A.2
  • 42
    • 0011720930 scopus 로고    scopus 로고
    • Fluorescence in situ hybridization
    • Gersen SL, Keagle MB (Eds), NJ, USA
    • Blancato JK. Fluorescence in situ hybridization. In: The Principles of Clinical Cytogenetics. Gersen SL, Keagle MB (Eds), NJ, USA, 449-453 (1999).
    • (1999) The Principles of Clinical Cytogenetics , pp. 449-453
    • Blancato, J.K.1
  • 43
    • 0036173354 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)
    • Witters I, Devriendt K, Legius E et al. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat. Diagn. 22(1), 29-33 (2002).
    • (2002) Prenat. Diagn. , vol.22 , Issue.1 , pp. 29-33
    • Witters, I.1    Devriendt, K.2    Legius, E.3
  • 44
    • 0035016839 scopus 로고    scopus 로고
    • Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-Year multi-center retrospective study and review of the literature
    • Tepperberg J, Pettenati MJ, Rao PN et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-Year multi-center retrospective study and review of the literature. Prenat. Diagn. 21(4), 293-301 (2001).
    • (2001) Prenat. Diagn. , vol.21 , Issue.4 , pp. 293-301
    • Tepperberg, J.1    Pettenati, M.J.2    Rao, P.N.3
  • 45
    • 0034520328 scopus 로고    scopus 로고
    • Technical and clinical assessment of fluorescence in situ hybridization: An ACMG/ASHG position statement. I. Technical considerations
    • Test and Technology Transfer Committee
    • Technical and clinical assessment of fluorescence in situ hybridization: An ACMG/ASHG position statement. I. Technical considerations. Test and Technology Transfer Committee. Genet. Med. 2(6), 356-361 (2000).
    • (2000) Genet. Med. , vol.2 , Issue.6 , pp. 356-361
  • 46
    • 0036295563 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: A review
    • Wilton L. Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review. Prenat. Diagn. 22(6), 512-518 (2002).
    • (2002) Prenat. Diagn. , vol.22 , Issue.6 , pp. 512-518
    • Wilton, L.1
  • 47
    • 0031980021 scopus 로고    scopus 로고
    • Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction
    • Toth T, Findlay I, Papp C et al. Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. J. Med. Genet. 35(2), 126-129 (1998).
    • (1998) J. Med. Genet. , vol.35 , Issue.2 , pp. 126-129
    • Toth, T.1    Findlay, I.2    Papp, C.3
  • 48
    • 0032904353 scopus 로고    scopus 로고
    • Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: First application on 247 chorionic villus samples
    • Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: First application on 247 chorionic villus samples. J. Med. Genet. 36(4), 300-303 (1999).
    • (1999) J. Med. Genet. , vol.36 , Issue.4 , pp. 300-303
    • Pertl, B.1    Kopp, S.2    Kroisel, P.M.3    Tului, L.4    Brambati, B.5    Adinolfi, M.6
  • 49
    • 0036211581 scopus 로고    scopus 로고
    • Developments in laboratory techniques for prenatal diagnosis
    • Miny P, Tercanli S, Holzgreve W. Developments in laboratory techniques for prenatal diagnosis. Curr. Opin. Obstet. Gynecol. 14(2), 161-168 (2002).
    • (2002) Curr. Opin. Obstet. Gynecol. , vol.14 , Issue.2 , pp. 161-168
    • Miny, P.1    Tercanli, S.2    Holzgreve, W.3
  • 50
    • 0036107146 scopus 로고    scopus 로고
    • Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR
    • Bili C, Divane A, Apessos A et al. Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR. Prenat. Diagn. 22(5), 360-365 (2002).
    • (2002) Prenat. Diagn. , vol.22 , Issue.5 , pp. 360-365
    • Bili, C.1    Divane, A.2    Apessos, A.3
  • 52
    • 0003228151 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization (FISH) - Evaluation of > 3000 cases
    • Eiben B, Trawicki W, Hammans W. Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization (FISH) - Evaluation of >3000 cases. Fetal Diagn. 18, 901-916 (1999).
    • (1999) Fetal Diagn. , vol.18 , pp. 901-916
    • Eiben, B.1    Trawicki, W.2    Hammans, W.3
  • 53
    • 0033841101 scopus 로고    scopus 로고
    • Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk
    • Schmidt W, Jenderny J, Hecher K et al. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol. Hum. Reprod. 6(9), 855-860 (2000).
    • (2000) Mol. Hum. Reprod. , vol.6 , Issue.9 , pp. 855-860
    • Schmidt, W.1    Jenderny, J.2    Hecher, K.3
  • 54
    • 0035936010 scopus 로고    scopus 로고
    • Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization
    • Wilton L, Williamson R, McBain J, Edgar D, Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N. Engl. J. Med. 345(21), 1537-1541 (2001). Successful PGD by analyzing a single cell by Comparative genomic hybridization (CGH).
    • (2001) N. Engl. J. Med. , vol.345 , Issue.21 , pp. 1537-1541
    • Wilton, L.1    Williamson, R.2    McBain, J.3    Edgar, D.4    Voullaire, L.5
  • 55
    • 0033926516 scopus 로고    scopus 로고
    • Comparative genomic hybridization with flow cytometry improves results of cytogenetic analysis of spontaneous abortions
    • Lomax B, Tang S, Separovic E et al. Comparative genomic hybridization with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am. J. Hum. Genet. 66(5), 1516-1521 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , Issue.5 , pp. 1516-1521
    • Lomax, B.1    Tang, S.2    Separovic, E.3
  • 56
    • 0033974777 scopus 로고    scopus 로고
    • Analysis of uncultured amniocytes by comparative genomic hybridization: A prospective prenatal study
    • Lapierre JM, Cacheux V, Luton D et al. Analysis of uncultured amniocytes by comparative genomic hybridization: A prospective prenatal study. Prenat. Diagn. 20(2), 123-131 (2000).
    • (2000) Prenat. Diagn. , vol.20 , Issue.2 , pp. 123-131
    • Lapierre, J.M.1    Cacheux, V.2    Luton, D.3
  • 57
    • 0036143687 scopus 로고    scopus 로고
    • Automated screening for genomic imbalances using matrix-based comparative genomic hybridization
    • Wessendorf S, Fritz B, Wrobel G et al. Automated screening for genomic imbalances using matrix-based comparative genomic hybridization. Lab. Invest. 82(1), 47-60 (2002). Describes innovations necessary for microarray technologies to emerge into clinical practice.
    • (2002) Lab. Invest. , vol.82 , Issue.1 , pp. 47-60
    • Wessendorf, S.1    Fritz, B.2    Wrobel, G.3
  • 58
    • 0032836396 scopus 로고    scopus 로고
    • Detection of aneuploidy in single cells using comparative genomic hybridization
    • Voullaire L, Wilton L, Slater H, Williamson R. Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat. Diagn. 19(9), 846-851 (1999).
    • (1999) Prenat. Diagn. , vol.19 , Issue.9 , pp. 846-851
    • Voullaire, L.1    Wilton, L.2    Slater, H.3    Williamson, R.4
  • 59
    • 0033557235 scopus 로고    scopus 로고
    • Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation
    • Wells D, Sherlock JK, Handyside AH, Delhanty JD. Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res. 27(4), 1214-1218 (1999). Noninvasive prenatal diagnostic strategies may require this type of technology.
    • (1999) Nucleic Acids Res. , vol.27 , Issue.4 , pp. 1214-1218
    • Wells, D.1    Sherlock, J.K.2    Handyside, A.H.3    Delhanty, J.D.4
  • 60
    • 0030701970 scopus 로고    scopus 로고
    • Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
    • Solinas-Toldo S, Lampel S, Stilgenbauer S et al. Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances. Genes Chromos. Cancer 20(4), 399-407 (1997).
    • (1997) Genes Chromos. Cancer , vol.20 , Issue.4 , pp. 399-407
    • Solinas-Toldo, S.1    Lampel, S.2    Stilgenbauer, S.3
  • 61
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nature Genet. 20(2), 207-211 (1998).
    • (1998) Nature Genet. , vol.20 , Issue.2 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3
  • 63
    • 0030915041 scopus 로고    scopus 로고
    • Prenatal diagnosis using fetal cells from the maternal circulation
    • Lamvu G, Kuller JA. Prenatal diagnosis using fetal cells from the maternal circulation. Obstet. Gynecol. Surv. 52(7), 433-437 (1997). Review article.
    • (1997) Obstet. Gynecol. Surv. , vol.52 , Issue.7 , pp. 433-437
    • Lamvu, G.1    Kuller, J.A.2
  • 64
    • 0029589896 scopus 로고
    • Prenatal diagnosis by analysis of fetal cells in maternal blood
    • Bianchi DW. Prenatal diagnosis by analysis of fetal cells in maternal blood. J. Pediatr. 127(6), 847-856 (1995).
    • (1995) J. Pediatr. , vol.127 , Issue.6 , pp. 847-856
    • Bianchi, D.W.1
  • 65
    • 0036635237 scopus 로고    scopus 로고
    • Fetal gender and aneuploidy detection using fetal cells in maternal blood: Analysis of NIFTY I data
    • Bianchi DW, Simpson JL, Jackson LG et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: Analysis of NIFTY I data. Prenat. Diagn. 22(7), 609-615 (2002). Results of the first attempts at noninvasive prenatal diagnosis.
    • (2002) Prenat. Diagn. , vol.22 , Issue.7 , pp. 609-615
    • Bianchi, D.W.1    Simpson, J.L.2    Jackson, L.G.3
  • 66
  • 67
    • 0032999273 scopus 로고    scopus 로고
    • Fetal cells in the maternal circulation: Feasibility for prenatal diagnosis
    • Bianchi DW. Fetal cells in the maternal circulation: Feasibility for prenatal diagnosis. Br. J. Haematol. 105(3), 574-583 (1999).
    • (1999) Br. J. Haematol. , vol.105 , Issue.3 , pp. 574-583
    • Bianchi, D.W.1
  • 68
    • 0033830434 scopus 로고    scopus 로고
    • Transcervical sampling as a means of detection of fetal cells during the first trimester of pregnancy
    • Daryani YP, Barker GH, Penna LK, Patton MA. Transcervical sampling as a means of detection of fetal cells during the first trimester of pregnancy. Am. J. Obstet. Gynecol. 183(3), 752-754 (2000).
    • (2000) Am. J. Obstet. Gynecol. , vol.183 , Issue.3 , pp. 752-754
    • Daryani, Y.P.1    Barker, G.H.2    Penna, L.K.3    Patton, M.A.4
  • 69
    • 0028841662 scopus 로고
    • Uterine cavity lavage: Adding FISH to conventional cytogenetics for embryonic sexing and diagnosing common chromosomal aberrations
    • Ishai D, Amiel A, Diukman R et al. Uterine cavity lavage: Adding FISH to conventional cytogenetics for embryonic sexing and diagnosing common chromosomal aberrations. Prenat. Diagn. 15(10), 961-965 (1995).
    • (1995) Prenat. Diagn. , vol.15 , Issue.10 , pp. 961-965
    • Ishai, D.1    Amiel, A.2    Diukman, R.3
  • 70
    • 0034850288 scopus 로고    scopus 로고
    • Fetal cells in the uterine cervix: A source for early non-invasive prenatal diagnosis
    • Fejgin MD, Diukman R, Cotton Y, Weinstein G, Amiel A, Fetal cells in the uterine cervix: A source for early non-invasive prenatal diagnosis. Prenat. Diagn. 21(8), 619-621 (2001).
    • (2001) Prenat. Diagn. , vol.21 , Issue.8 , pp. 619-621
    • Fejgin, M.D.1    Diukman, R.2    Cotton, Y.3    Weinstein, G.4    Amiel, A.5
  • 71
    • 0030700884 scopus 로고    scopus 로고
    • Minimally-invasive early prenatal diagnosis using fluorescence in situ hybridization on samples from uterine lavage
    • Chang SD, Lin SL, Chu KK, Hsi BL. Minimally-invasive early prenatal diagnosis using fluorescence in situ hybridization on samples from uterine lavage. Prenat. Diagn. 17(11), 1019-1025 (1997).
    • (1997) Prenat. Diagn. , vol.17 , Issue.11 , pp. 1019-1025
    • Chang, S.D.1    Lin, S.L.2    Chu, K.K.3    Hsi, B.L.4
  • 74
    • 0036467131 scopus 로고    scopus 로고
    • The end of the beginning of chromosome ends
    • Biesecker LG. The end of the beginning of chromosome ends. Am. J. Med. Genet. 107(4), 263-266 (2002). Reviews chromosome imbalances involving chromosome telomeres.
    • (2002) Am. J. Med. Genet. , vol.107 , Issue.4 , pp. 263-266
    • Biesecker, L.G.1
  • 75
    • 0034820287 scopus 로고    scopus 로고
    • Molecular cytogenetics
    • Carpenter NJ. Molecular cytogenetics. Semin. Pediatr. Neurol. 8(3), 135-146 (2001). Review article.
    • (2001) Semin. Pediatr. Neurol. , vol.8 , Issue.3 , pp. 135-146
    • Carpenter, N.J.1
  • 76
    • 0011775011 scopus 로고    scopus 로고
    • American College of Medical Genetics. http://www.acmg.net/Pages/ACMG_Activities/policy_statements_ pages/current/Multiple_Marker_Screening_in_Women_35_and_Older_ Position_Statement_on.asp


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.