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Volumn 9, Issue 4, 2018, Pages 347-362

An overview of concepts and approaches used in estimating the burden of congenital disorders globally

(27)  Moorthie, Sowmiya a   Blencowe, Hannah b   W Darlison, Matthew c   Lawn, Joy E b,f   Mastroiacovo, Pierpaolo d   Morris, Joan K e,f   Modell, Bernadette c   Bittles, A H f   Blencowe, H f   Christianson, A f   Cousens, S f   Darlison, M W f   Gibbons, S f   Hamamy, H f   Khoshnood, B f   Howson, C P f   Mastroiacovo, P f   Modell, B f   Moorthie, S f   Mossey, P A f   more..

f NONE

Author keywords

Congenital disorders; Epidemiology; Policy; Public health

Indexed keywords

AGE DISTRIBUTION; ARTICLE; BIRTH; CONGENITAL DISORDER; DEMOGRAPHY; GLOBAL DISEASE BURDEN; HUMAN; LIFE EXPECTANCY; LONG TERM SURVIVAL; MEDICAL TERMINOLOGY; MORTALITY; PATIENT CARE; PREGNANCY OUTCOME; PREVALENCE; PRIORITY JOURNAL; WORLD HEALTH ORGANIZATION;

EID: 85031122280     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-017-0335-3     Document Type: Article
Times cited : (17)

References (81)
  • 1
    • 84904904737 scopus 로고    scopus 로고
    • The effect of consanguinity on neonatal outcomes and health
    • Abbas HA, Yunis K (2014) The effect of consanguinity on neonatal outcomes and health. Hum Hered 77:87–92. doi:10.1159/000362125
    • (2014) Hum Hered , vol.77 , pp. 87-92
    • Abbas, H.A.1    Yunis, K.2
  • 2
    • 0023188906 scopus 로고
    • Life expectancy in Down syndrome
    • COI: 1:STN:280:DyaL2s3isFCgtA%3D%3D
    • Baird PA, Sadovnick AD (1987) Life expectancy in Down syndrome. J Pediatr 110:849–854
    • (1987) J Pediatr , vol.110 , pp. 849-854
    • Baird, P.A.1    Sadovnick, A.D.2
  • 3
    • 0024203484 scopus 로고
    • Life expectancy in Down syndrome adults
    • COI: 1:STN:280:DyaL1M%2Fls1GnsA%3D%3D
    • Baird PA, Sadovnick AD (1988) Life expectancy in Down syndrome adults. Lancet 2:1354–1356
    • (1988) Lancet , vol.2 , pp. 1354-1356
    • Baird, P.A.1    Sadovnick, A.D.2
  • 4
    • 0023936538 scopus 로고
    • Genetic disorders in children and young adults: a population study
    • COI: 1:STN:280:DyaL1c7ptFyrtw%3D%3D, PID: 3358420
    • Baird PA, Anderson TW, Newcombe HB, Lowry RB (1988) Genetic disorders in children and young adults: a population study. Am J Hum Genet 42:677–693
    • (1988) Am J Hum Genet , vol.42 , pp. 677-693
    • Baird, P.A.1    Anderson, T.W.2    Newcombe, H.B.3    Lowry, R.B.4
  • 5
    • 0344766171 scopus 로고
    • The course and prognosis of coarctation of the aorta
    • COI: 1:STN:280:DyaG2s%2FitValuw%3D%3D
    • Baylis JH, Campbell M (1956) The course and prognosis of coarctation of the aorta. Br Heart J 18:475–495
    • (1956) Br Heart J , vol.18 , pp. 475-495
    • Baylis, J.H.1    Campbell, M.2
  • 6
    • 84890939374 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinemia and Rhesus disease of the newborn: incidence and impairment estimates for 2010 at regional and global levels
    • Bhutani VK et al (2013) Neonatal hyperbilirubinemia and Rhesus disease of the newborn: incidence and impairment estimates for 2010 at regional and global levels. Pediatr Res 74(Suppl 1):86–100. doi:10.1038/pr.2013.208
    • (2013) Pediatr Res , vol.74 , pp. 86-100
    • Bhutani, V.K.1
  • 7
    • 0038298335 scopus 로고    scopus 로고
    • Consanguineous marriage and childhood health
    • COI: 1:STN:280:DC%2BD3szkvF2msQ%3D%3D
    • Bittles AH (2003) Consanguineous marriage and childhood health. Dev Med Child Neurol 45:571–576
    • (2003) Dev Med Child Neurol , vol.45 , pp. 571-576
    • Bittles, A.H.1
  • 8
    • 78049253425 scopus 로고    scopus 로고
    • The impact of consanguinity on neonatal and infant health
    • Bittles AH, Black ML (2010) The impact of consanguinity on neonatal and infant health. Early Hum Dev 86:737–741. doi:10.1016/j.earlhumdev.2010.08.003
    • (2010) Early Hum Dev , vol.86 , pp. 737-741
    • Bittles, A.H.1    Black, M.L.2
  • 10
    • 0028025362 scopus 로고
    • The costs of human inbreeding and their implications for variations at the DNA level
    • Bittles AH, Neel JV (1994) The costs of human inbreeding and their implications for variations at the DNA level. Nat Genet 8:117–121. doi:10.1038/ng1094-117
    • (1994) Nat Genet , vol.8 , pp. 117-121
    • Bittles, A.H.1    Neel, J.V.2
  • 14
    • 84884416457 scopus 로고    scopus 로고
    • Rare-disease genetics in the era of next-generation sequencing: discovery to translation
    • Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE (2013) Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 14:681–691. doi:10.1038/nrg3555
    • (2013) Nat Rev Genet , vol.14 , pp. 681-691
    • Boycott, K.M.1    Vanstone, M.R.2    Bulman, D.E.3    MacKenzie, A.E.4
  • 15
    • 0027831539 scopus 로고
    • A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding
    • COI: 1:STN:280:DyaK2czhvF2isQ%3D%3D
    • Bundey S, Alam H (1993) A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding. Eur J Hum Genet 1:206–219
    • (1993) Eur J Hum Genet , vol.1 , pp. 206-219
    • Bundey, S.1    Alam, H.2
  • 16
    • 0014235755 scopus 로고
    • Natural history of persistent ductus arteriosus
    • COI: 1:STN:280:DyaF1c7jt1aktg%3D%3D
    • Campbell M (1968) Natural history of persistent ductus arteriosus. Br Heart J 30:4–13
    • (1968) Br Heart J , vol.30 , pp. 4-13
    • Campbell, M.1
  • 17
    • 0000681301 scopus 로고
    • The prognosis of atrial septal defect
    • COI: 1:STN:280:DyaG2s%2FotlCquw%3D%3D
    • Campbell M, Neill C, Suzman S (1957) The prognosis of atrial septal defect. Br Med J 1:1375–1383
    • (1957) Br Med J , vol.1 , pp. 1375-1383
    • Campbell, M.1    Neill, C.2    Suzman, S.3
  • 18
    • 0017652445 scopus 로고
    • Monogenic disorders
    • COI: 1:STN:280:DyaE1c%2FmvFWisQ%3D%3D
    • Carter CO (1977) Monogenic disorders. J Med Genet 14:316–320
    • (1977) J Med Genet , vol.14 , pp. 316-320
    • Carter, C.O.1
  • 19
    • 84961028522 scopus 로고
    • Preliminary report on treatment of mongoloids
    • COI: 1:STN:280:DyaG1c%2FjsVGnsg%3D%3D, PID: 13491786
    • Carter CH, Maley MC (1958) Preliminary report on treatment of mongoloids. J Fla Med Assoc 44:709–713
    • (1958) J Fla Med Assoc , vol.44 , pp. 709-713
    • Carter, C.H.1    Maley, M.C.2
  • 20
    • 0024405679 scopus 로고
    • Perinatal mortality in different ethnic groups
    • COI: 1:STN:280:DyaK3c7pslaitQ%3D%3D
    • Chitty LS, Winter RM (1989) Perinatal mortality in different ethnic groups. Arch Dis Child 64:1036–1041
    • (1989) Arch Dis Child , vol.64 , pp. 1036-1041
    • Chitty, L.S.1    Winter, R.M.2
  • 21
    • 2942705950 scopus 로고    scopus 로고
    • Long term follow up study of survival associated with cleft lip and palate at birth
    • Christensen K, Juel K, Herskind AM, Murray JC (2004) Long term follow up study of survival associated with cleft lip and palate at birth. BMJ 328:1405. doi:10.1136/bmj.38106.559120.7C
    • (2004) BMJ , vol.328 , pp. 1405
    • Christensen, K.1    Juel, K.2    Herskind, A.M.3    Murray, J.C.4
  • 22
    • 5044221020 scopus 로고    scopus 로고
    • Medical genetics in developing countries
    • Christianson A, Modell B (2004) Medical genetics in developing countries. Annu Rev Genomics Hum Genet 5:219–265. doi:10.1146/annurev.genom.5.061903.175935
    • (2004) Annu Rev Genomics Hum Genet , vol.5 , pp. 219-265
    • Christianson, A.1    Modell, B.2
  • 23
    • 84904916611 scopus 로고    scopus 로고
    • Consanguinity and prevalence patterns of inherited disease in the UK Pakistani community
    • Corry PC (2014) Consanguinity and prevalence patterns of inherited disease in the UK Pakistani community. Hum Hered 77:207–216. doi:10.1159/000362598
    • (2014) Hum Hered , vol.77 , pp. 207-216
    • Corry, P.C.1
  • 24
    • 0021871332 scopus 로고
    • The effect of Mendelian disease on human health: a measurement
    • Costa T, Scriver CR, Childs B (1985) The effect of Mendelian disease on human health: a measurement. Am J Med Genet 21:231–242. doi:10.1002/ajmg.1320210205
    • (1985) Am J Med Genet , vol.21 , pp. 231-242
    • Costa, T.1    Scriver, C.R.2    Childs, B.3
  • 25
    • 0021134039 scopus 로고
    • The load of genetic and partially genetic disorders in man. I Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life
    • COI: 1:STN:280:DyaL2c3psFentw%3D%3D
    • Czeizel A, Sankaranarayanan K (1984) The load of genetic and partially genetic disorders in man. I Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life. Mutat Res 128:73–103
    • (1984) Mutat Res , vol.128 , pp. 73-103
    • Czeizel, A.1    Sankaranarayanan, K.2
  • 26
    • 84980378472 scopus 로고    scopus 로고
    • Prevention of congenital disorders and care of affected children: a consensus statement
    • Darmstadt GL et al (2016) Prevention of congenital disorders and care of affected children: a consensus statement. JAMA Pediatr 170:790–793. doi:10.1001/jamapediatrics.2016.0388
    • (2016) JAMA Pediatr , vol.170 , pp. 790-793
    • Darmstadt, G.L.1
  • 28
    • 0018678935 scopus 로고
    • Abnormal haemoglobins in the Sudan savanna of Nigeria. I. Prevalence of haemoglobins and relationships between sickle cell trait, malaria and survival
    • COI: 1:STN:280:DyaL3c%2FktFCgtg%3D%3D
    • Fleming AF, Storey J, Molineaux L, Iroko EA, Attai ED (1979) Abnormal haemoglobins in the Sudan savanna of Nigeria. I. Prevalence of haemoglobins and relationships between sickle cell trait, malaria and survival. Ann Trop Med Parasitol 73:161–172
    • (1979) Ann Trop Med Parasitol , vol.73 , pp. 161-172
    • Fleming, A.F.1    Storey, J.2    Molineaux, L.3    Iroko, E.A.4    Attai, E.D.5
  • 29
    • 1642537690 scopus 로고    scopus 로고
    • Maternal and neonatal factors and mortality in children with down syndrome born in 1973-1980 and 1995-1998
    • COI: 1:STN:280:DC%2BD2c%2FpvFaqtQ%3D%3D
    • Frid C, Drott P, Otterblad Olausson P, Sundelin C, Anneren G (2004) Maternal and neonatal factors and mortality in children with down syndrome born in 1973-1980 and 1995-1998. Acta Paediatr 93:106–112
    • (2004) Acta Paediatr , vol.93 , pp. 106-112
    • Frid, C.1    Drott, P.2    Otterblad Olausson, P.3    Sundelin, C.4    Anneren, G.5
  • 30
    • 84870267029 scopus 로고    scopus 로고
    • G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map
    • Howes RE et al (2012) G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map. PLoS Med 9:e1001339. doi:10.1371/journal.pmed.1001339
    • (2012) PLoS Med , vol.9
    • Howes, R.E.1
  • 31
    • 0037560967 scopus 로고    scopus 로고
    • Outcome in people with open spina bifida at age 35: prospective community based cohort study
    • Hunt GM, Oakeshott P (2003) Outcome in people with open spina bifida at age 35: prospective community based cohort study. BMJ 326:1365–1366. doi:10.1136/bmj.326.7403.1365
    • (2003) BMJ , vol.326 , pp. 1365-1366
    • Hunt, G.M.1    Oakeshott, P.2
  • 32
    • 85054135608 scopus 로고    scopus 로고
    • IHME, University of Washington, WA: Available from Accessed [01.09.2015]
    • Institute for Health Metrics and Evaluation (IHME) (2015) GHDX Seattle. IHME, University of Washington, WA Available from http://ghdx.healthdata.org/ (Accessed [01.09.2015])
    • (2015) GHDX Seattle
  • 33
    • 85054152139 scopus 로고    scopus 로고
    • Levels and trends in child mortality
    • Inter-agency Group for Child Mortality Estimation (UN-IGME) (2015) Levels and trends in child mortality. childmortalityorg
    • (2015) Childmortalityorg
  • 34
    • 85027121279 scopus 로고    scopus 로고
    • Systematic review and meta-analysis of the birth prevalence of orofacial clefts in low- and middle-income countries cleft palate
    • Kadir A, Mossey PA, Blencowe H, Moorthie S, Lawn JE, Mastroiacovo P, Modell B (2016) Systematic review and meta-analysis of the birth prevalence of orofacial clefts in low- and middle-income countries cleft palate. Craniofac J. doi:10.1597/15-221
    • (2016) Craniofac J
    • Kadir, A.1    Mossey, P.A.2    Blencowe, H.3    Moorthie, S.4    Lawn, J.E.5    Mastroiacovo, P.6    Modell, B.7
  • 35
    • 0024361911 scopus 로고
    • Albinism and skin cancer in Southern Africa
    • COI: 1:STN:280:DyaL1MzlsFCmsQ%3D%3D
    • Kromberg JG, Castle D, Zwane EM, Jenkins T (1989) Albinism and skin cancer in Southern Africa. Clin Genet 36:43–52
    • (1989) Clin Genet , vol.36 , pp. 43-52
    • Kromberg, J.G.1    Castle, D.2    Zwane, E.M.3    Jenkins, T.4
  • 36
    • 0015042573 scopus 로고
    • Natural history of spina bifida cystica and cranium bifidum cysticum. Major central nervous system malformations in South Wales IV
    • COI: 1:STN:280:DyaE3M7ptVCgug%3D%3D
    • Laurence KM, Tew BJ (1971) Natural history of spina bifida cystica and cranium bifidum cysticum. Major central nervous system malformations in South Wales IV. Arch Dis Child 46:127–138
    • (1971) Arch Dis Child , vol.46 , pp. 127-138
    • Laurence, K.M.1    Tew, B.J.2
  • 37
    • 0035857350 scopus 로고    scopus 로고
    • Survival and reproduction among males with birth defects and risk of recurrence in their children
    • COI: 1:STN:280:DC%2BD3M7ltVOmtg%3D%3D
    • Lie RT, Wilcox AJ, Skjaerven R (2001) Survival and reproduction among males with birth defects and risk of recurrence in their children. JAMA 285:755–760
    • (2001) JAMA , vol.285 , pp. 755-760
    • Lie, R.T.1    Wilcox, A.J.2    Skjaerven, R.3
  • 38
    • 0036667801 scopus 로고    scopus 로고
    • Trends in fetal and infant deaths caused by congenital anomalies
    • Liu S, Joseph KS, Wen SW (2002) Trends in fetal and infant deaths caused by congenital anomalies. Semin Perinatol 26:268–276
    • (2002) Semin Perinatol , vol.26 , pp. 268-276
    • Liu, S.1    Joseph, K.S.2    Wen, S.W.3
  • 39
    • 84861926839 scopus 로고    scopus 로고
    • Global, regional, and national causes of child mortality: an updated systematic analysis for 2010 with time trends since 2000
    • Liu L et al (2012) Global, regional, and national causes of child mortality: an updated systematic analysis for 2010 with time trends since 2000. Lancet 379:2151–2161. doi:10.1016/S0140-6736(12)60560-1
    • (2012) Lancet , vol.379 , pp. 2151-2161
    • Liu, L.1
  • 40
    • 33646799069 scopus 로고    scopus 로고
    • Global and regional burden of disease and risk factors, 2001: systematic analysis of population health data
    • Lopez AD, Mathers CD, Ezzati M, Jamison DT, Murray CJ (2006a) Global and regional burden of disease and risk factors, 2001: systematic analysis of population health data. Lancet 367:1747–1757. doi:10.1016/S0140-6736(06)68770-9
    • (2006) Lancet , vol.367 , pp. 1747-1757
    • Lopez, A.D.1    Mathers, C.D.2    Ezzati, M.3    Jamison, D.T.4    Murray, C.J.5
  • 41
    • 36448956528 scopus 로고    scopus 로고
    • Measuring the global burden of disease and risk factors
    • 1990-2001. In: Lopez AD, Mathers CD, Ezzati M, Jamison DT, Murray CJL, Washington (DC)
    • Lopez AD, Mathers CD, Ezzati M, Jamison DT, Murray CJL (2006b) Measuring the global burden of disease and risk factors, 1990-2001. In: Lopez AD, Mathers CD, Ezzati M, Jamison DT, Murray CJL (eds) Global burden of disease and risk factors. Washington (DC)
    • (2006) Global Burden of Disease and Risk Factors
    • Lopez, A.D.1    Mathers, C.D.2    Ezzati, M.3    Jamison, D.T.4    Murray, C.J.L.5
  • 42
    • 0015074917 scopus 로고
    • Results of treatment of myelomeningocele. An analysis of 524 unselected cases, with special reference to possible selection for treatment
    • COI: 1:STN:280:DyaE38%2FgtFeiug%3D%3D
    • Lorber J (1971) Results of treatment of myelomeningocele. An analysis of 524 unselected cases, with special reference to possible selection for treatment. Dev Med Child Neurol 13:279–303
    • (1971) Dev Med Child Neurol , vol.13 , pp. 279-303
    • Lorber, J.1
  • 43
    • 46749140929 scopus 로고    scopus 로고
    • Lack of adequate sun protection for children with oculocutaneous albinism in South Africa
    • Lund PM, Taylor JS (2008) Lack of adequate sun protection for children with oculocutaneous albinism in South Africa. BMC Public Health 8:225. doi:10.1186/1471-2458-8-225
    • (2008) BMC Public Health , vol.8 , pp. 225
    • Lund, P.M.1    Taylor, J.S.2
  • 44
    • 0001499681 scopus 로고
    • The incidence and life expectation of children with congenital heart disease
    • COI: 1:STN:280:DyaG3s%2Fms1Orug%3D%3D
    • Macmahon B, McKeown T, Record RG (1953) The incidence and life expectation of children with congenital heart disease. Br Heart J 15:121–129
    • (1953) Br Heart J , vol.15 , pp. 121-129
    • Macmahon, B.1    McKeown, T.2    Record, R.G.3
  • 46
    • 44949128064 scopus 로고    scopus 로고
    • Global epidemiology of haemoglobin disorders and derived service indicators
    • Modell B, Darlison M (2008) Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 86:480–487
    • (2008) Bull World Health Organ , vol.86 , pp. 480-487
    • Modell, B.1    Darlison, M.2
  • 48
    • 0034631379 scopus 로고    scopus 로고
    • Survival in beta-thalassaemia major in the UK: data from the UK Thalassaemia Register
    • Modell B, Khan M, Darlison M (2000) Survival in beta-thalassaemia major in the UK: data from the UK Thalassaemia Register. Lancet 355:2051–2052. doi:10.1016/S0140-6736(00)02357-6
    • (2000) Lancet , vol.355 , pp. 2051-2052
    • Modell, B.1    Khan, M.2    Darlison, M.3
  • 49
    • 57349095277 scopus 로고    scopus 로고
    • Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance
    • Modell B, Khan M, Darlison M, Westwood MA, Ingram D, Pennell DJ (2008) Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance. J Cardiovasc Magn Reson 10:42. doi:10.1186/1532-429X-10-42
    • (2008) J Cardiovasc Magn Reson , vol.10 , pp. 42
    • Modell, B.1    Khan, M.2    Darlison, M.3    Westwood, M.A.4    Ingram, D.5    Pennell, D.J.6
  • 51
    • 85029802458 scopus 로고    scopus 로고
    • Chromosomal disorders: estimating baseline prevalence and pregnancy outcomes worldwide
    • Moorthie S et al. (2017) Chromosomal disorders: estimating baseline prevalence and pregnancy outcomes worldwide. J Commun Genet. doi:10.1007/s12687-017-0336-2
    • (2017) J Commun Genet
    • Moorthie, S.1
  • 52
    • 38349120051 scopus 로고    scopus 로고
    • Is the prevalence of Klinefelter syndrome increasing?
    • Morris JK, Alberman E, Scott C, Jacobs P (2008) Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 16:163–170. doi:10.1038/sj.ejhg.5201956
    • (2008) Eur J Hum Genet , vol.16 , pp. 163-170
    • Morris, J.K.1    Alberman, E.2    Scott, C.3    Jacobs, P.4
  • 53
    • 0242670655 scopus 로고    scopus 로고
    • Epidemiology of oral clefts: An international perspective
    • Oxford University Press, Oxford
    • Mossey PA, Little J (2002) Epidemiology of oral clefts: an international perspective. In: Cleft lip and palate: from origin to treatment. Oxford University Press, Oxford
    • (2002) Cleft Lip and Palate: From Origin to Treatment
    • Mossey, P.A.1    Little, J.2
  • 54
    • 84906732545 scopus 로고    scopus 로고
    • Epidemiology of Oral Clefts 2012: An International Perspective
    • S. KARGER AG, Basel
    • Mossey PA, Modell B (2012) Epidemiology of oral clefts 2012: an international perspective. 16:1-18. Front Oral Biol. doi:10.1159/000337464
    • (2012) Frontiers of Oral Biology , pp. 1-18
    • Mossey, P.A.1    Modell, B.2
  • 56
    • 53149130950 scopus 로고    scopus 로고
    • Infantile hypertrophic pyloric stenosis: a comparative study of incidence and other epidemiological characteristics in seven European regions
    • Pedersen RN, Garne E, Loane M, Korsholm L, Husby S, Group EW (2008) Infantile hypertrophic pyloric stenosis: a comparative study of incidence and other epidemiological characteristics in seven European regions. J Matern Fetal Neonatal Med 21:599–604. doi:10.1080/14767050802214824
    • (2008) J Matern Fetal Neonatal Med , vol.21 , pp. 599-604
    • Pedersen, R.N.1    Garne, E.2    Loane, M.3    Korsholm, L.4    Husby, S.5    Group, E.W.6
  • 57
    • 0345490121 scopus 로고
    • The incidence of mongolism in the general population
    • COI: 1:STN:280:DyaH1M%2FltVeltw%3D%3D
    • Penrose LS (1949) The incidence of mongolism in the general population. J Ment Sci 95:685–688
    • (1949) J Ment Sci , vol.95 , pp. 685-688
    • Penrose, L.S.1
  • 58
    • 0030782622 scopus 로고    scopus 로고
    • An overview of infant mortality and birth defects in the United States
    • Petrini J, Damus K, Johnston RB Jr (1997) An overview of infant mortality and birth defects in the United States. Teratology 56:8–10. doi:10.1002/(SICI)1096-9926(199707/08)56:1/28::AID-TERA33.0.CO;2-U
    • (1997) Teratology , vol.56 , pp. 8-10
    • Petrini, J.1    Damus, K.2    Johnston, R.B.3
  • 59
    • 84881220584 scopus 로고    scopus 로고
    • Global burden of sickle cell anaemia in children under five, 2010-2050: modelling based on demographics, excess mortality, and interventions
    • Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN (2013a) Global burden of sickle cell anaemia in children under five, 2010-2050: modelling based on demographics, excess mortality, and interventions. PLoS Med 10:e1001484. doi:10.1371/journal.pmed.1001484
    • (2013) PLoS Med , vol.10
    • Piel, F.B.1    Hay, S.I.2    Gupta, S.3    Weatherall, D.J.4    Williams, T.N.5
  • 62
    • 0022915423 scopus 로고
    • Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome
    • COI: 1:STN:280:DyaL28zgs1GjsQ%3D%3D
    • Price WH, Clayton JF, Collyer S, De Mey R, Wilson J (1986) Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome. J Epidemiol Community Health 40:97–102
    • (1986) J Epidemiol Community Health , vol.40 , pp. 97-102
    • Price, W.H.1    Clayton, J.F.2    Collyer, S.3    De Mey, R.4    Wilson, J.5
  • 63
    • 0033535610 scopus 로고    scopus 로고
    • A population-based study of survival and childbearing among female subjects with birth defects and the risk of recurrence in their children
    • Skjaerven R, Wilcox AJ, Lie RT (1999) A population-based study of survival and childbearing among female subjects with birth defects and the risk of recurrence in their children. N Engl J Med 340:1057–1062. doi:10.1056/NEJM199904083401401
    • (1999) N Engl J Med , vol.340 , pp. 1057-1062
    • Skjaerven, R.1    Wilcox, A.J.2    Lie, R.T.3
  • 64
    • 0345380886 scopus 로고
    • The load of hereditary defects in human populations
    • Stevenson AC (1959) The load of hereditary defects in human populations. Radiat Res Suppl 1:306–325
    • (1959) Radiat Res Suppl , vol.1 , pp. 306-325
    • Stevenson, A.C.1
  • 65
    • 33749561387 scopus 로고    scopus 로고
    • Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome
    • Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH (2006) Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 91:3897–3902. doi:10.1210/jc.2006-0558
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 3897-3902
    • Stochholm, K.1    Juul, S.2    Juel, K.3    Naeraa, R.W.4    Gravholt, C.H.5
  • 66
    • 76749153747 scopus 로고    scopus 로고
    • 20-year survival of children born with congenital anomalies: a population-based study
    • Tennant PW, Pearce MS, Bythell M, Rankin J (2010) 20-year survival of children born with congenital anomalies: a population-based study. Lancet 375:649–656. doi:10.1016/S0140-6736(09)61922-X
    • (2010) Lancet , vol.375 , pp. 649-656
    • Tennant, P.W.1    Pearce, M.S.2    Bythell, M.3    Rankin, J.4
  • 67
  • 68
    • 0016198945 scopus 로고
    • The amount of hereditary disease in human populations
    • COI: 1:STN:280:DyaE28%2FjvVChtg%3D%3D
    • Trimble BK, Doughty JH (1974) The amount of hereditary disease in human populations. Ann Hum Genet 38:199–223
    • (1974) Ann Hum Genet , vol.38 , pp. 199-223
    • Trimble, B.K.1    Doughty, J.H.2
  • 69
    • 84975080472 scopus 로고    scopus 로고
    • UNAIDS (2016) Global aids update. http://www.unaids.org/sites/default/files/media_asset/global-AIDS-update-2016_en.pdf
    • (2016) Global Aids Update
  • 71
    • 34248156426 scopus 로고    scopus 로고
    • Klinefelter syndrome and other sex chromosomal aneuploidies
    • Visootsak J, Graham JM Jr (2006) Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1:42. doi:10.1186/1750-1172-1-42
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 42
    • Visootsak, J.1    Graham, J.M.2
  • 72
    • 84859894558 scopus 로고    scopus 로고
    • Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
    • Wellesley D et al (2012) Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 20:521–526. doi:10.1038/ejhg.2011.246
    • (2012) Eur J Hum Genet , vol.20 , pp. 521-526
    • Wellesley, D.1
  • 78
    • 0034768074 scopus 로고    scopus 로고
    • Survival with congenital heart disease and need for follow up in adult life
    • COI: 1:STN:280:DC%2BD3M3msFKitQ%3D%3D
    • Wren C, O'Sullivan JJ (2001) Survival with congenital heart disease and need for follow up in adult life. Heart 85:438–443
    • (2001) Heart , vol.85 , pp. 438-443
    • Wren, C.1    O'Sullivan, J.J.2
  • 79
    • 84857036283 scopus 로고    scopus 로고
    • Mortality in infants with cardiovascular malformations
    • Wren C et al (2012) Mortality in infants with cardiovascular malformations. Eur J Pediatr 171:281–287. doi:10.1007/s00431-011-1525-3
    • (2012) Eur J Pediatr , vol.171 , pp. 281-287
    • Wren, C.1
  • 80
    • 84884980167 scopus 로고    scopus 로고
    • Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004–2011
    • Wu J, Springett A, Morris JK (2013) Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004–2011. Am J Med Genet A 161A:2512–2518. doi:10.1002/ajmg.a.36127
    • (2013) Am J Med Genet A , vol.161A , pp. 2512-2518
    • Wu, J.1    Springett, A.2    Morris, J.K.3
  • 81
    • 8144230418 scopus 로고    scopus 로고
    • Risks of selected congenital malformations among offspring of mixed race-ethnicity birth defects
    • Yang J, Carmichael SL, Kaidarova Z, Shaw GM (2004) Risks of selected congenital malformations among offspring of mixed race-ethnicity birth defects. Res A Clin Mol Teratol 70:820–824. doi:10.1002/bdra.20054
    • (2004) Res A Clin Mol Teratol , vol.70 , pp. 820-824
    • Yang, J.1    Carmichael, S.L.2    Kaidarova, Z.3    Shaw, G.M.4


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