Abbas HA, Yunis K (2014) The effect of consanguinity on neonatal outcomes and health. Hum Hered 77:87–92. doi:10.1159/000362125
Article
PubMed
Google Scholar
Baird PA, Sadovnick AD (1987) Life expectancy in Down syndrome. J Pediatr 110:849–854
CAS
Article
Google Scholar
Baird PA, Sadovnick AD (1988) Life expectancy in Down syndrome adults. Lancet 2:1354–1356
CAS
Article
Google Scholar
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
CAS
PubMed
PubMed Central
Google Scholar
Baylis JH, Campbell M (1956) The course and prognosis of coarctation of the aorta. Br Heart J 18:475–495
CAS
Article
Google Scholar
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
Article
PubMed
PubMed Central
Google Scholar
Bittles AH (2003) Consanguineous marriage and childhood health. Dev Med Child Neurol 45:571–576
CAS
Article
Google Scholar
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
CAS
Article
PubMed
Google Scholar
Bittles AH, Black ML, (2015) Global patterns and tables of consanguinity. http://consang.net
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
CAS
Article
PubMed
Google Scholar
Blencowe H, Cousens S, Jassir FB, Say L, Chou D, Mathers C, Hogan D, Shiekh S, Qureshi ZU, You D, Lawn JE, Lancet. Stillbirth Epidemiology Investigator, Group (2017) National, regional, and worldwide estimates of stillbirth rates in 2015, with trends from 2000: a systematic analysis. Lancet Glob Health 4:e98–e108. doi:10.1016/S2214-109X(15)00275-2
Article
Google Scholar
Bojesen A, Juul S, Birkebaek N, Gravholt CH (2004) Increased mortality in Klinefelter syndrome. J Clin Endocrinol Metab 89:3830–3834. doi:10.1210/jc.2004-0777
CAS
Article
PubMed
Google Scholar
Bowman RM, McLone DG, Grant JA, Tomita T, Ito JA (2001) Spina bifida outcome: a 25-year prospective. Pediatr Neurosurg 34:114–120
CAS
Article
Google Scholar
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
CAS
Article
PubMed
Google Scholar
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
CAS
Article
Google Scholar
Campbell M (1968) Natural history of persistent ductus arteriosus. Br Heart J 30:4–13
CAS
Article
Google Scholar
Campbell M, Neill C, Suzman S (1957) The prognosis of atrial septal defect. Br Med J 1:1375–1383
CAS
Article
Google Scholar
Carter CO (1977) Monogenic disorders. J Med Genet 14:316–320
CAS
Article
Google Scholar
Carter CH, Maley MC (1958) Preliminary report on treatment of mongoloids. J Fla Med Assoc 44:709–713
CAS
PubMed
Google Scholar
Chitty LS, Winter RM (1989) Perinatal mortality in different ethnic groups. Arch Dis Child 64:1036–1041
CAS
Article
Google Scholar
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
Article
PubMed
PubMed Central
Google Scholar
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
CAS
Article
PubMed
Google Scholar
Corry PC (2014) Consanguinity and prevalence patterns of inherited disease in the UK Pakistani community. Hum Hered 77:207–216. doi:10.1159/000362598
Article
PubMed
Google Scholar
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
CAS
Article
PubMed
Google Scholar
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
CAS
Article
Google Scholar
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
Article
PubMed
Google Scholar
Elwood JM, Little J, Elwood JH (1992) Epidemiology and control of neural tube defects. Oxford University Press
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
CAS
Article
Google Scholar
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
CAS
Article
Google Scholar
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
CAS
Article
PubMed
PubMed Central
Google Scholar
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
Article
PubMed
PubMed Central
Google Scholar
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])
Google Scholar
Inter-agency Group for Child Mortality Estimation (UN-IGME) (2015) Levels and trends in child mortality. childmortalityorg
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
Kromberg JG, Castle D, Zwane EM, Jenkins T (1989) Albinism and skin cancer in Southern Africa. Clin Genet 36:43–52
CAS
Article
Google Scholar
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
CAS
Article
Google Scholar
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
CAS
Article
Google Scholar
Liu S, Joseph KS, Wen SW (2002) Trends in fetal and infant deaths caused by congenital anomalies. Semin Perinatol 26:268–276
Article
Google Scholar
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
Article
PubMed
Google Scholar
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
Article
PubMed
Google Scholar
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)
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
CAS
Article
Google Scholar
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
Article
PubMed
PubMed Central
Google Scholar
Macmahon B, McKeown T, Record RG (1953) The incidence and life expectation of children with congenital heart disease. Br Heart J 15:121–129
CAS
Article
Google Scholar
Modell B, Berdoukas V (1984) The clinical approach to thalassaemia. Grune & Stratton, London
Google Scholar
Modell B, Darlison M (2008) Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 86:480–487
Article
Google Scholar
Modell B, Modell M (1992) Towards a healthy baby: congenital disorders and the new genetics in primary care. Oxford University Press
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
CAS
Article
PubMed
Google Scholar
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
Article
PubMed
PubMed Central
Google Scholar
Modell B, Darlison MW, Moorthie S, Blencowe H, Petrou M, Lawn J (2016) Epidemiological methods in community genetics and the Modell Global Database of Congenital Disorders (MGDb) downloaded from UCL Discovery. http://discovery.ucl.ac.uk/1532179/
Moorthie S et al. (2017) Chromosomal disorders: estimating baseline prevalence and pregnancy outcomes worldwide. J Commun Genet. doi:10.1007/s12687-017-0336-2
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
CAS
Article
PubMed
Google Scholar
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
Mossey PA, Modell B (2012) Epidemiology of oral clefts 2012: an international perspective. 16:1-18. Front Oral Biol. doi:10.1159/000337464
Google Scholar
Mourant AE, Domaniewska-Sobczak K, Kopec AC, Tills D, Tills RE (1976) The distribution of the human blood groups and other polymorphisms, 2nd ed., Suppl.1 edn. OUP, Oxford
Google Scholar
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
Article
PubMed
Google Scholar
Penrose LS (1949) The incidence of mongolism in the general population. J Ment Sci 95:685–688
CAS
Article
Google Scholar
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)56:1/2<8::AID-TERA3>3.0.CO;2-U
CAS
Article
PubMed
Google Scholar
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
Article
PubMed
PubMed Central
Google Scholar
Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Dewi M, Temperley WH, Williams TN, Weatherall DJ, Hay SI (2013b) Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates. Lancet 381:142–151. doi:10.1016/S0140-6736(12)61229-X
Article
PubMed
PubMed Central
Google Scholar
Platt OS, Brambilla DJ, Rosse WF, Milner PF, Castro O, Steinberg MH, Klug PP (1994) Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med 330:1639–1644. doi:10.1056/NEJM199406093302303
CAS
Article
PubMed
Google Scholar
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
CAS
Article
Google Scholar
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
CAS
Article
PubMed
Google Scholar
Stevenson AC (1959) The load of hereditary defects in human populations. Radiat Res Suppl 1:306–325
Article
Google Scholar
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
CAS
Article
PubMed
Google Scholar
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
Article
PubMed
Google Scholar
Terry PB, Bissenden JG, Condie RG, Mathew PM (1985) Ethnic differences in congenital malformations. Arch Dis Child 60:866–868
CAS
Article
Google Scholar
Trimble BK, Doughty JH (1974) The amount of hereditary disease in human populations. Ann Hum Genet 38:199–223
CAS
Article
Google Scholar
UNAIDS (2016) Global aids update. http://www.unaids.org/sites/default/files/media_asset/global-AIDS-update-2016_en.pdf
United Nations Population Division (2015) World Population Prospects: the 2015 revision. http://esa.un.org/wpp/index.htm
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
Article
PubMed
PubMed Central
Google Scholar
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
CAS
Article
PubMed
PubMed Central
Google Scholar
World Health Organization (1985a) Community approaches to the control of hereditary diseases. Report of a WHO Advisory Group on Hereditary Diseases. Geneva 3–5 October 1985. Unpublished WHO document HMG/AG/85.10 available at http://www.who.int/genomics/publications/WHOHGNWG85.10.pdf
World Health Organization (1985b) Glucose-6-phosphate dehydrogenase deficiency. Report of a WHO Working Group. Unpublished WHO Document HDP/WP/G6PD/85.9.May be obtained free of charge from: The Hereditary Diseases Programme. WHO, Geneva
Google Scholar
World Health Organization (2000) Primary health care approaches for the control of congenital disorders and disability. Report of a WHO meeting Cairo, 6–8 December 1999. WHO/HGN/WG/00.1
World Health Organization (2010) Sixty-third world health assembly: Geneva, 17–21 May 2010,
World Health Organization 2016 The International Classification of Diseases, Tenth Revision (ICD-10)
Wren C, O'Sullivan JJ (2001) Survival with congenital heart disease and need for follow up in adult life. Heart 85:438–443
CAS
Article
Google Scholar
Wren C et al (2012) Mortality in infants with cardiovascular malformations. Eur J Pediatr 171:281–287. doi:10.1007/s00431-011-1525-3
Article
PubMed
Google Scholar
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
Article
PubMed
Google Scholar
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
CAS
Article
Google Scholar