메뉴 건너뛰기




Volumn 32, Issue 2, 2012, Pages 231-248

Down Syndrome in India-Diagnosis, Screening, and Prenatal Diagnosis

Author keywords

Cytogenetic studies; Down syndrome; Folate metabolism; Future therapies; Noninvasive prenatal diagnosis; Screening and prenatal diagnosis

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN; FOLIC ACID; MEMANTINE; PENTETRAZOLE; PICROTOXIN; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

EID: 84862688523     PISSN: 02722712     EISSN: 15579832     Source Type: Journal    
DOI: 10.1016/j.cll.2012.04.010     Document Type: Review
Times cited : (9)

References (80)
  • 1
    • 70349660072 scopus 로고    scopus 로고
    • The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome
    • Megarbane A., Ravel A., Mircher C., et al. The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome. Genet Med 2009, 11(9):611-616.
    • (2009) Genet Med , vol.11 , Issue.9 , pp. 611-616
    • Megarbane, A.1    Ravel, A.2    Mircher, C.3
  • 2
    • 0034682403 scopus 로고    scopus 로고
    • Chromosome 21 mapping and sequencing consortium
    • Hattori M., Fujiyama A., Taylor T.D., et al. Chromosome 21 mapping and sequencing consortium. Nature 2000, 405:311-319.
    • (2000) Nature , vol.405 , pp. 311-319
    • Hattori, M.1    Fujiyama, A.2    Taylor, T.D.3
  • 3
    • 78149486803 scopus 로고    scopus 로고
    • Down syndrome: from understanding the neurobiology to therapy
    • Gardiner K., Herault Y., Lott I.T., et al. Down syndrome: from understanding the neurobiology to therapy. J Neuroscience 2010, 30(45):14943-14945.
    • (2010) J Neuroscience , vol.30 , Issue.45 , pp. 14943-14945
    • Gardiner, K.1    Herault, Y.2    Lott, I.T.3
  • 4
    • 5044234361 scopus 로고    scopus 로고
    • Chromosome 21 and Down syndrome: from genomics to pathophysiology
    • Antonarakis S.E., Lyle R., Dermitzakis E.T., et al. Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004, 5:725-738.
    • (2004) Nat Rev Genet , vol.5 , pp. 725-738
    • Antonarakis, S.E.1    Lyle, R.2    Dermitzakis, E.T.3
  • 5
    • 63149117340 scopus 로고    scopus 로고
    • Down syndrome-recent progress and future prospects
    • Wiseman F.K., Alford K.A., Tybulewicz V.L., et al. Down syndrome-recent progress and future prospects. Hum Mol Genet 2009, 18(R1):R75-R83.
    • (2009) Hum Mol Genet , vol.18 , Issue.R1
    • Wiseman, F.K.1    Alford, K.A.2    Tybulewicz, V.L.3
  • 6
    • 33845548364 scopus 로고    scopus 로고
    • Incidence of Down Syndrome in Dubai, UAE
    • Murthy S.K., Malhotra A.K., Mani S., et al. Incidence of Down Syndrome in Dubai, UAE. Med Princ Pract 2007, 16:25-28.
    • (2007) Med Princ Pract , vol.16 , pp. 25-28
    • Murthy, S.K.1    Malhotra, A.K.2    Mani, S.3
  • 7
    • 33751190719 scopus 로고    scopus 로고
    • National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001
    • Canfield M.A., Honein M.A., Yuskiv N., et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol 2006, 76:747-756.
    • (2006) Birth Defects Res A Clin Mol Teratol , vol.76 , pp. 747-756
    • Canfield, M.A.1    Honein, M.A.2    Yuskiv, N.3
  • 8
    • 0037433652 scopus 로고    scopus 로고
    • Down's syndrome
    • Roizen N.J., Patterson D. Down's syndrome. Lancet 2003, 361:1281-1289.
    • (2003) Lancet , vol.361 , pp. 1281-1289
    • Roizen, N.J.1    Patterson, D.2
  • 9
    • 0036432819 scopus 로고    scopus 로고
    • The burden of genetic disorders in India and a framework for community control
    • Verma I.C., Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genetics 2002, 5(3):192-196.
    • (2002) Community Genetics , vol.5 , Issue.3 , pp. 192-196
    • Verma, I.C.1    Bijarnia, S.2
  • 10
    • 0023987240 scopus 로고
    • Maternal age-specific rates for Down syndrome: changes over time
    • Baird P.A., Sadovnick A.D. Maternal age-specific rates for Down syndrome: changes over time. Am J Med Genet 1988, 29:917-927.
    • (1988) Am J Med Genet , vol.29 , pp. 917-927
    • Baird, P.A.1    Sadovnick, A.D.2
  • 11
    • 84862659283 scopus 로고    scopus 로고
    • Directorate of Economics and Statistics, & Office of the Chief Registrar (Births and Deaths), Civil Lines, Vikas Bhavan II, New Delhi
    • Annual Report on Registration of Births & Deaths in Delhi 2010, Directorate of Economics and Statistics, & Office of the Chief Registrar (Births and Deaths), Civil Lines, Vikas Bhavan II, New Delhi.
    • (2010) Annual Report on Registration of Births & Deaths in Delhi
  • 12
    • 1342281723 scopus 로고    scopus 로고
    • Down syndrome: clinical profile from India
    • Kava M.P., Tullu M.S., Muranjan M.N., et al. Down syndrome: clinical profile from India. Arch Med Res 2004, 35(1):31-35.
    • (2004) Arch Med Res , vol.35 , Issue.1 , pp. 31-35
    • Kava, M.P.1    Tullu, M.S.2    Muranjan, M.N.3
  • 13
    • 0019521072 scopus 로고
    • Developmental milestones of Down's syndrome patients in north India
    • Menon P.S., Sachdev H.P., Verma I.C., et al. Developmental milestones of Down's syndrome patients in north India. Indian J Med Res 1981, 73:369-373.
    • (1981) Indian J Med Res , vol.73 , pp. 369-373
    • Menon, P.S.1    Sachdev, H.P.2    Verma, I.C.3
  • 14
    • 79551650511 scopus 로고    scopus 로고
    • Correlation between physical anomaly and behavioral abnormalities in Down syndrome
    • Bhattacharyya R., Sanyal D., Roy K., et al. Correlation between physical anomaly and behavioral abnormalities in Down syndrome. J Pediatr Neurosci 2010, 5(2):105-110.
    • (2010) J Pediatr Neurosci , vol.5 , Issue.2 , pp. 105-110
    • Bhattacharyya, R.1    Sanyal, D.2    Roy, K.3
  • 15
    • 0026927609 scopus 로고
    • Congenital heart disease in Down syndrome: an echocardiographic study
    • Bhatia S., Verma I.C., Shrivastava S. Congenital heart disease in Down syndrome: an echocardiographic study. Indian Pediatrics 1992, 29(9):1113-1116.
    • (1992) Indian Pediatrics , vol.29 , Issue.9 , pp. 1113-1116
    • Bhatia, S.1    Verma, I.C.2    Shrivastava, S.3
  • 16
    • 65349104004 scopus 로고    scopus 로고
    • Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child
    • Nebesio T.D., Eugster E.A. Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child. J Pediatr Endocrinol Metab 2009, 22(3):263-268.
    • (2009) J Pediatr Endocrinol Metab , vol.22 , Issue.3 , pp. 263-268
    • Nebesio, T.D.1    Eugster, E.A.2
  • 17
    • 78650545422 scopus 로고    scopus 로고
    • Graves' disease in a Down's syndrome patient
    • Bhat M.H., Saba S., Ahmed I., et al. Graves' disease in a Down's syndrome patient. J Pediatr Endocrinol Metab 2010, 23(11):1181-1183.
    • (2010) J Pediatr Endocrinol Metab , vol.23 , Issue.11 , pp. 1181-1183
    • Bhat, M.H.1    Saba, S.2    Ahmed, I.3
  • 18
    • 24644480521 scopus 로고    scopus 로고
    • Hematological disorders in Down syndrome: ten-year experience at a tertiary care centre in North India
    • 507-2
    • Awasthi A., Das R., Varma N., et al. Hematological disorders in Down syndrome: ten-year experience at a tertiary care centre in North India. Pediatr Hematol Oncol 2005, 22(6). 507-2.
    • (2005) Pediatr Hematol Oncol , vol.22 , Issue.6
    • Awasthi, A.1    Das, R.2    Varma, N.3
  • 19
    • 79955474993 scopus 로고    scopus 로고
    • Transient aplastic anemia in Down's syndrome-a rare association
    • Gathwala G., Dalal P., Dalal J.S., et al. Transient aplastic anemia in Down's syndrome-a rare association. Eur J Med Genet 2011, 54(3):341-342.
    • (2011) Eur J Med Genet , vol.54 , Issue.3 , pp. 341-342
    • Gathwala, G.1    Dalal, P.2    Dalal, J.S.3
  • 20
    • 84855455032 scopus 로고    scopus 로고
    • Prolonged postoperative desaturation in a child with Down syndrome and atrial septal defect
    • Sinha R., Thangaswamy C.R., Muthiah T., et al. Prolonged postoperative desaturation in a child with Down syndrome and atrial septal defect. Indian J Anaesth 2011, 55(6):608-610.
    • (2011) Indian J Anaesth , vol.55 , Issue.6 , pp. 608-610
    • Sinha, R.1    Thangaswamy, C.R.2    Muthiah, T.3
  • 22
    • 79959696116 scopus 로고    scopus 로고
    • Immune evaluation and vaccine responses in Down syndrome: evidence of immunodeficiency?
    • Joshi A.Y., Abraham R.S., Snyder M.R., et al. Immune evaluation and vaccine responses in Down syndrome: evidence of immunodeficiency?. Vaccine 2011, 29(31):5040-5046.
    • (2011) Vaccine , vol.29 , Issue.31 , pp. 5040-5046
    • Joshi, A.Y.1    Abraham, R.S.2    Snyder, M.R.3
  • 23
    • 0019348489 scopus 로고
    • Physical growth of children with Down syndrome in India
    • Sachdev H.S., Menon P.S., Verma I.C., et al. Physical growth of children with Down syndrome in India. Indian Journal Pediatr 1981, 48(390):85-89.
    • (1981) Indian Journal Pediatr , vol.48 , Issue.390 , pp. 85-89
    • Sachdev, H.S.1    Menon, P.S.2    Verma, I.C.3
  • 24
    • 0344837278 scopus 로고    scopus 로고
    • The changing survival profile of people with Down's syndrome: implications for genetic counselling
    • Glasson N., Sullivan E.J., Hussain S.G., et al. The changing survival profile of people with Down's syndrome: implications for genetic counselling. Clinical Genet 2002, 62(5):390-393.
    • (2002) Clinical Genet , vol.62 , Issue.5 , pp. 390-393
    • Glasson, N.1    Sullivan, E.J.2    Hussain, S.G.3
  • 25
    • 33751198729 scopus 로고    scopus 로고
    • Fertility in men with Down syndrome: a case report
    • 1765,e1-3
    • Pradhan M., Dalal A., Khan F., et al. Fertility in men with Down syndrome: a case report. Fertil Steril 2006, 86(6). 1765,e1-3.
    • (2006) Fertil Steril , vol.86 , Issue.6
    • Pradhan, M.1    Dalal, A.2    Khan, F.3
  • 26
  • 27
    • 0029917626 scopus 로고    scopus 로고
    • Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists
    • Mutton D., Alberman E., Hook E.B. Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. J Med Genet 1996, 33:387-394.
    • (1996) J Med Genet , vol.33 , pp. 387-394
    • Mutton, D.1    Alberman, E.2    Hook, E.B.3
  • 28
    • 0033921367 scopus 로고    scopus 로고
    • Cytogenetic studies of 1001 Down syndrome cases from Andhra Pradesh, India
    • Jyothy A., Kumar K.S., Rao G.N., et al. Cytogenetic studies of 1001 Down syndrome cases from Andhra Pradesh, India. Indian J Med Res 2000, 111:133-137.
    • (2000) Indian J Med Res , vol.111 , pp. 133-137
    • Jyothy, A.1    Kumar, K.S.2    Rao, G.N.3
  • 29
    • 16544384302 scopus 로고    scopus 로고
    • Cytogenetic profile of Down syndrome in Alexandria, Egypt
    • Mokhtar M.M., Abdel-Aziz A.M., Nazmy N.A., et al. Cytogenetic profile of Down syndrome in Alexandria, Egypt. Eastern Med Health J 2003, 9:37-44.
    • (2003) Eastern Med Health J , vol.9 , pp. 37-44
    • Mokhtar, M.M.1    Abdel-Aziz, A.M.2    Nazmy, N.A.3
  • 30
    • 9644260618 scopus 로고    scopus 로고
    • Mosaic Down's syndrome prevalence in a complete population study
    • Devlin L., Morrison P.J. Mosaic Down's syndrome prevalence in a complete population study. Arch Dis Child 2004, 89:1177-1178.
    • (2004) Arch Dis Child , vol.89 , pp. 1177-1178
    • Devlin, L.1    Morrison, P.J.2
  • 31
    • 23644457194 scopus 로고    scopus 로고
    • Down syndrome: clinical and cytogenetic analysis
    • Ahmed I., Ghafoor T., Samore N.A., et al. Down syndrome: clinical and cytogenetic analysis. J Coll Physicians Surg Pak 2005, 15(7):426-429.
    • (2005) J Coll Physicians Surg Pak , vol.15 , Issue.7 , pp. 426-429
    • Ahmed, I.1    Ghafoor, T.2    Samore, N.A.3
  • 32
    • 35648999970 scopus 로고    scopus 로고
    • Cytogenetic analysis of Down syndrome in Gujarat
    • Sheth F., Rao S., Desai M., et al. Cytogenetic analysis of Down syndrome in Gujarat. Indian Pediatr 2007, 44:774-777.
    • (2007) Indian Pediatr , vol.44 , pp. 774-777
    • Sheth, F.1    Rao, S.2    Desai, M.3
  • 33
    • 84872749320 scopus 로고    scopus 로고
    • Acessed May 20, 2012
    • Acessed May 20, 2012. http://omim.org/entry/190685.
  • 34
    • 77955868547 scopus 로고    scopus 로고
    • Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population
    • Mandava S., Koppaka N., Bhatia V., et al. Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population. Genet Test Mol Biomarkers 2010, 14(4):499-504.
    • (2010) Genet Test Mol Biomarkers , vol.14 , Issue.4 , pp. 499-504
    • Mandava, S.1    Koppaka, N.2    Bhatia, V.3
  • 35
    • 0025765858 scopus 로고
    • Maternal transmission of translocation 2;21 associated with Down's syndrome
    • Kotwaliwale S.V., Dicholkar V.V., Motashaw N.D. Maternal transmission of translocation 2;21 associated with Down's syndrome. Journal Med Genet 1991, 28(6):415-416.
    • (1991) Journal Med Genet , vol.28 , Issue.6 , pp. 415-416
    • Kotwaliwale, S.V.1    Dicholkar, V.V.2    Motashaw, N.D.3
  • 36
    • 58549100511 scopus 로고    scopus 로고
    • Double trisomy with 48, XXX+21 karyotype in a Down's syndrome child from Jammu and Kashmir, India
    • Balwan W.K., Kumar P., Raina T.R., et al. Double trisomy with 48, XXX+21 karyotype in a Down's syndrome child from Jammu and Kashmir, India. J Genet 2008, 87(3):257-259.
    • (2008) J Genet , vol.87 , Issue.3 , pp. 257-259
    • Balwan, W.K.1    Kumar, P.2    Raina, T.R.3
  • 37
    • 0016779448 scopus 로고
    • Down syndrome: maternal age in 615 cases in india and its implications in genetic counseling
    • Verma I.C., Gupta A.K., Devanagondi B.S. Down syndrome: maternal age in 615 cases in india and its implications in genetic counseling. Indian pediatrics 1975, 12(12):1239-1245.
    • (1975) Indian pediatrics , vol.12 , Issue.12 , pp. 1239-1245
    • Verma, I.C.1    Gupta, A.K.2    Devanagondi, B.S.3
  • 38
    • 0023789656 scopus 로고
    • High efficiency in the attribution of parental origin of nondisjunction in trisomy 21 by both cytogenetic and molecular polymorphisms
    • Dagna-Bricarelli F., Pierluigi M., Perroni L., et al. High efficiency in the attribution of parental origin of nondisjunction in trisomy 21 by both cytogenetic and molecular polymorphisms. Hum Genet 1988, 79:124-127.
    • (1988) Hum Genet , vol.79 , pp. 124-127
    • Dagna-Bricarelli, F.1    Pierluigi, M.2    Perroni, L.3
  • 39
    • 0029187821 scopus 로고
    • The origin of numerical chromosomal abnormalities
    • Jacobs P.A., Hassold T.J. The origin of numerical chromosomal abnormalities. In Adv Hum Genet 1995, 33:101-133.
    • (1995) In Adv Hum Genet , vol.33 , pp. 101-133
    • Jacobs, P.A.1    Hassold, T.J.2
  • 40
    • 84862662023 scopus 로고    scopus 로고
    • Down syndrome in India
    • Kluwer Academic Publishers, Dordrecht, D. Kumar (Ed.)
    • Raman R. Down syndrome in India. Genetic disorders of the Indian subcontinent 2004, 171-184. Kluwer Academic Publishers, Dordrecht. D. Kumar (Ed.).
    • (2004) Genetic disorders of the Indian subcontinent , pp. 171-184
    • Raman, R.1
  • 41
    • 77958485580 scopus 로고    scopus 로고
    • Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage data
    • Ghosh S., Bhaumik P., Ghosh P., et al. Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage data. Genet Res 2010, 92(3):189-197.
    • (2010) Genet Res , vol.92 , Issue.3 , pp. 189-197
    • Ghosh, S.1    Bhaumik, P.2    Ghosh, P.3
  • 42
    • 32044452864 scopus 로고    scopus 로고
    • Influence of advanced age of maternal grandmothers on Down syndrome
    • Malini S.S., Ramachandra N.B. Influence of advanced age of maternal grandmothers on Down syndrome. BMC Med Genet 2006, 7:4.
    • (2006) BMC Med Genet , vol.7 , pp. 4
    • Malini, S.S.1    Ramachandra, N.B.2
  • 43
    • 0028879783 scopus 로고
    • Impaired chromosome segregation in plant anaphase after moderate hypomethylation of DNA
    • Leyton C., Mergudich D., de la Torre D., et al. Impaired chromosome segregation in plant anaphase after moderate hypomethylation of DNA. Cell Prolif 1995, 28:481-496.
    • (1995) Cell Prolif , vol.28 , pp. 481-496
    • Leyton, C.1    Mergudich, D.2    de la Torre, D.3
  • 44
    • 0032845227 scopus 로고    scopus 로고
    • Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome
    • James S.J., Pogribna M., Pogribny I.P., et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 1999, 70:495-501.
    • (1999) Am J Clin Nutr , vol.70 , pp. 495-501
    • James, S.J.1    Pogribna, M.2    Pogribny, I.P.3
  • 45
    • 0033846999 scopus 로고    scopus 로고
    • Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
    • Hobbs C.A., Sherman S.L., Yi P., et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 2000, 67:623-630.
    • (2000) Am J Hum Genet , vol.67 , pp. 623-630
    • Hobbs, C.A.1    Sherman, S.L.2    Yi, P.3
  • 46
    • 0004481882 scopus 로고    scopus 로고
    • A common mutation in the methylenetetrahydrofolate reductase gene is not a risk factor for Down syndrome
    • Petersen M., Grigoriadou M., Mikkelsen M. A common mutation in the methylenetetrahydrofolate reductase gene is not a risk factor for Down syndrome. Am J Hum Genet 2000, 67(Suppl 2):141.
    • (2000) Am J Hum Genet , vol.67 , Issue.SUPPL. 2 , pp. 141
    • Petersen, M.1    Grigoriadou, M.2    Mikkelsen, M.3
  • 47
    • 70249132588 scopus 로고    scopus 로고
    • MTHFR Gene variants C677T, A1298C and association with Down syndrome: a Case-control study from South India
    • Cyril C., Rai P., Chandra N., et al. MTHFR Gene variants C677T, A1298C and association with Down syndrome: a Case-control study from South India. Indian J Hum Genet 2009, 15(2):60-64.
    • (2009) Indian J Hum Genet , vol.15 , Issue.2 , pp. 60-64
    • Cyril, C.1    Rai, P.2    Chandra, N.3
  • 48
    • 58149326891 scopus 로고    scopus 로고
    • Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Down's syndrome, research and practice
    • Kohli U., Arora S., Kabra M., et al. Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Down's syndrome, research and practice. Journal of the Sarah Duffen Centre/University of Portsmouth 2008, 12(2):133-137.
    • (2008) Journal of the Sarah Duffen Centre/University of Portsmouth , vol.12 , Issue.2 , pp. 133-137
    • Kohli, U.1    Arora, S.2    Kabra, M.3
  • 49
    • 80053937529 scopus 로고    scopus 로고
    • Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project
    • Bean L.J., Allen E.G., Tinker S.W., et al. Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project. Birth defects research Part A, Clinical and Molecular Teratology 2011, 91(10):885-893.
    • (2011) Birth defects research Part A, Clinical and Molecular Teratology , vol.91 , Issue.10 , pp. 885-893
    • Bean, L.J.1    Allen, E.G.2    Tinker, S.W.3
  • 50
    • 33847057355 scopus 로고    scopus 로고
    • Issues in counseling for Down syndrome
    • Girisha K.M., Sharda S.V., Phadke S.R. Issues in counseling for Down syndrome. Indian Pediatr 2007, 44(2):131-133.
    • (2007) Indian Pediatr , vol.44 , Issue.2 , pp. 131-133
    • Girisha, K.M.1    Sharda, S.V.2    Phadke, S.R.3
  • 51
    • 80051515425 scopus 로고    scopus 로고
    • Committee on Genetics. Health supervision for children with Down syndrome
    • Bull M.J. Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2011, 128(2):393-406.
    • (2011) Pediatrics , vol.128 , Issue.2 , pp. 393-406
    • Bull, M.J.1
  • 52
    • 78649316663 scopus 로고    scopus 로고
    • Clinical practice. The care of children with Down syndrome
    • Weijerman M.E., de Winter J.P. Clinical practice. The care of children with Down syndrome. Eur J Pediatr 2010, 169(12):1445-1452.
    • (2010) Eur J Pediatr , vol.169 , Issue.12 , pp. 1445-1452
    • Weijerman, M.E.1    de Winter, J.P.2
  • 54
    • 73849092216 scopus 로고    scopus 로고
    • Professional Practice Guidelines Committee. Screening for fetal aneuploidy and neural tube defects
    • Driscoll D.A., Gross S.J. Professional Practice Guidelines Committee. Screening for fetal aneuploidy and neural tube defects. Genet Med 2009, 11(11):818-821.
    • (2009) Genet Med , vol.11 , Issue.11 , pp. 818-821
    • Driscoll, D.A.1    Gross, S.J.2
  • 55
    • 27744477773 scopus 로고    scopus 로고
    • First-trimester or second-trimester screening, or both, for Down's syndrome for the first trimester and second trimester evaluation of risk (FASTER) research consortium
    • Malone F.D., Canick J.A., Ball R.H., et al. First-trimester or second-trimester screening, or both, for Down's syndrome for the first trimester and second trimester evaluation of risk (FASTER) research consortium. N Engl J Med 2005, 353:2001-2011.
    • (2005) N Engl J Med , vol.353 , pp. 2001-2011
    • Malone, F.D.1    Canick, J.A.2    Ball, R.H.3
  • 56
    • 0029181608 scopus 로고
    • The implementation of first-trimester scanning at 10-13 weeks' gestation and the measurement of fetal nuchal translucency thickness in two maternity units
    • Pandya P.P., Goldberg H., Walton B., et al. The implementation of first-trimester scanning at 10-13 weeks' gestation and the measurement of fetal nuchal translucency thickness in two maternity units. Ultrasound Obstet Gynecol 1995, 5(1):20-25.
    • (1995) Ultrasound Obstet Gynecol , vol.5 , Issue.1 , pp. 20-25
    • Pandya, P.P.1    Goldberg, H.2    Walton, B.3
  • 57
    • 80855147908 scopus 로고    scopus 로고
    • First-trimester screening for trisomy 21 using alpha-fetoprotein
    • Bredaki F.E., Wright D., Matos P., et al. First-trimester screening for trisomy 21 using alpha-fetoprotein. Fetal Diagn Ther 2011, 30:215-218.
    • (2011) Fetal Diagn Ther , vol.30 , pp. 215-218
    • Bredaki, F.E.1    Wright, D.2    Matos, P.3
  • 58
    • 78650803485 scopus 로고    scopus 로고
    • Screening for fetal aneuploides at 11-13 weeks
    • Nicolaides K.H. Screening for fetal aneuploides at 11-13 weeks. Prenat Diag 2011, 31:7-15.
    • (2011) Prenat Diag , vol.31 , pp. 7-15
    • Nicolaides, K.H.1
  • 59
    • 0035904786 scopus 로고    scopus 로고
    • Absence of nasal bone infetuses with trisomy 21 at 11-14 weeks of gestation: an observational study
    • Cicero S., Curcio P., Papageorghiou A., et al. Absence of nasal bone infetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet 2001, 358:1665-1667.
    • (2001) Lancet , vol.358 , pp. 1665-1667
    • Cicero, S.1    Curcio, P.2    Papageorghiou, A.3
  • 60
    • 79954998794 scopus 로고    scopus 로고
    • Turning the pyramis of prenatal care
    • Nicolaides K.H. Turning the pyramis of prenatal care. Fetal Diagn Ther 2011, 29:183-196.
    • (2011) Fetal Diagn Ther , vol.29 , pp. 183-196
    • Nicolaides, K.H.1
  • 61
    • 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
  • 62
    • 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
  • 63
    • 58149523129 scopus 로고    scopus 로고
    • Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0-13 + 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 + 0-13 + 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
  • 64
    • 80055083178 scopus 로고    scopus 로고
    • Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women
    • Guanciali-Franchi P., Iezzi I., Palka C., et al. Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women. Prenat Diagn 2011, 31(11):1077-1081.
    • (2011) Prenat Diagn , vol.31 , Issue.11 , pp. 1077-1081
    • Guanciali-Franchi, P.1    Iezzi, I.2    Palka, C.3
  • 65
    • 0027057919 scopus 로고
    • Sonographic scoring index for prenatal detection of chromosomal abnormalities
    • Benacerraf B.R., Neuberg D., Bromley B., et al. Sonographic scoring index for prenatal detection of chromosomal abnormalities. J Ultrasound Med 1992, 11:449-458.
    • (1992) J Ultrasound Med , vol.11 , pp. 449-458
    • Benacerraf, B.R.1    Neuberg, D.2    Bromley, B.3
  • 66
    • 0343353640 scopus 로고    scopus 로고
    • Genetic sonogram: computerized assessment of risk for Down syndrome based on obstetric US findings during the second trimester (abstr)
    • Nyberg D.A., Luthy D.A., Williams M.A., et al. Genetic sonogram: computerized assessment of risk for Down syndrome based on obstetric US findings during the second trimester (abstr). Radiology 1996, 201(P):160.
    • (1996) Radiology , vol.201 , Issue.P , pp. 160
    • Nyberg, D.A.1    Luthy, D.A.2    Williams, M.A.3
  • 67
    • 0034942947 scopus 로고    scopus 로고
    • Ultrasonographic femur-tibial length ratio: a marker of Down syndrome from the late second trimester
    • Gupta R., Thomas R.D., Sreenivas V., et al. Ultrasonographic femur-tibial length ratio: a marker of Down syndrome from the late second trimester. Am J Perinatol 2001, 18(4):217-224.
    • (2001) Am J Perinatol , vol.18 , Issue.4 , pp. 217-224
    • Gupta, R.1    Thomas, R.D.2    Sreenivas, V.3
  • 68
    • 0030001568 scopus 로고    scopus 로고
    • Karyotyping of at risk fetuses by cordocentesis in advanced gestation
    • Kabra M., Saxena R., Chinnappan D., et al. Karyotyping of at risk fetuses by cordocentesis in advanced gestation. Indian J Med Res 1996, 104:288-291.
    • (1996) Indian J Med Res , vol.104 , pp. 288-291
    • Kabra, M.1    Saxena, R.2    Chinnappan, D.3
  • 69
    • 0036263292 scopus 로고    scopus 로고
    • Rapid prenatal karyotyping using foetal blood obtained by cordocentesis
    • Mathur R., Dubey S., Hamilton S., et al. Rapid prenatal karyotyping using foetal blood obtained by cordocentesis. Nat Med J India 2002, 15(2):75-77.
    • (2002) Nat Med J India , vol.15 , Issue.2 , pp. 75-77
    • Mathur, R.1    Dubey, S.2    Hamilton, S.3
  • 70
    • 78751687893 scopus 로고    scopus 로고
    • Prenatal diagnosis of fetal aneuploidies: post-genomic developments
    • Hahn S., Jackson L.G., Zimmermann B.G. Prenatal diagnosis of fetal aneuploidies: post-genomic developments. Genome Med 2010, 2(8):50.
    • (2010) Genome Med , vol.2 , Issue.8 , pp. 50
    • Hahn, S.1    Jackson, L.G.2    Zimmermann, B.G.3
  • 71
    • 79960556461 scopus 로고    scopus 로고
    • The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
    • Shaffer L.G., Coppinger J., Morton S.A., et al. The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes. Prenat Diagn 2011, 31(8):778-787.
    • (2011) Prenat Diagn , vol.31 , Issue.8 , pp. 778-787
    • Shaffer, L.G.1    Coppinger, J.2    Morton, S.A.3
  • 72
    • 78751683468 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study
    • Chiu R.W., Akolekar R., Zheng Y.W., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study. BMJ 2011, 342:c7401.
    • (2011) BMJ , vol.342
    • Chiu, R.W.1    Akolekar, R.2    Zheng, Y.W.3
  • 73
    • 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
  • 74
    • 79953739378 scopus 로고    scopus 로고
    • Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
    • Papageorgiou E.A., Karagrigoriou A., Tsaliki E., et al. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med 2011, 17:510-513.
    • (2011) Nat Med , vol.17 , pp. 510-513
    • Papageorgiou, E.A.1    Karagrigoriou, A.2    Tsaliki, E.3
  • 76
    • 84856328923 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly
    • Benn P., Cuckle H., Pergament E. Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly. Ultrasound Obstet Gynecol 2012, 39:127-130.
    • (2012) Ultrasound Obstet Gynecol , vol.39 , pp. 127-130
    • Benn, P.1    Cuckle, H.2    Pergament, E.3
  • 77
    • 33947673494 scopus 로고    scopus 로고
    • Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome
    • Fernandez F., Morishita W., Zuniga E., et al. Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat Neurosci 2007, 10:411-413.
    • (2007) Nat Neurosci , vol.10 , pp. 411-413
    • Fernandez, F.1    Morishita, W.2    Zuniga, E.3
  • 78
    • 43649094588 scopus 로고    scopus 로고
    • Acute injections of the NMDA receptor antagonist memantine rescue performance deficits of the Ts65Dn mouse model of Down syndrome on a fear conditioning test
    • Costa C., Scott-McKean J.J., Stasko M.R. Acute injections of the NMDA receptor antagonist memantine rescue performance deficits of the Ts65Dn mouse model of Down syndrome on a fear conditioning test. Neuropsychopharmacology 2007, 33:1624-1632.
    • (2007) Neuropsychopharmacology , vol.33 , pp. 1624-1632
    • Costa, C.1    Scott-McKean, J.J.2    Stasko, M.R.3
  • 79
    • 77951836101 scopus 로고    scopus 로고
    • Restoration of norepinephrine-modulated contextual memory in a mouse model of Down syndrome
    • 7ra17
    • Salehi M., Faizi D., Colas J., et al. Restoration of norepinephrine-modulated contextual memory in a mouse model of Down syndrome. Sci Transl Med 2009, 1. 7ra17.
    • (2009) Sci Transl Med , vol.1
    • Salehi, M.1    Faizi, D.2    Colas, J.3
  • 80
    • 77951568674 scopus 로고    scopus 로고
    • Cognitive enhancement therapy for a model of Downs syndrome
    • Wiseman F.K. Cognitive enhancement therapy for a model of Downs syndrome. Sci Transl Med 2009, 1:1.
    • (2009) Sci Transl Med , vol.1 , pp. 1
    • Wiseman, F.K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.