Группа авторов

Genetic Disorders and the Fetus


Скачать книгу

of gastroschisis: population‐based study in California. J Pediatr 2008; 152:807.

      79 79. Alberto G, Barbero P, Liascovich R, et al. Congenital limb reduction defects in 1.6 million births in Argentina. Am J Med Genet A 2020; 182:1084.

      80 80. Yang L, Liu X, Li Z, et al. Genetic aetiology of early infant deaths in a neonatal intensive care unit. J Med Genet 2020; 57:169.

      81 81. Power S, Meaney S, O'Donoghue K. The incidence of fatal anomalies associated with perinatal mortality in Ireland. Prenat Diagn 2020; 40:549.

      82 82. Galjaard H. Genetic metabolic diseases: early diagnosis and prenatal analysis. Amsterdam: Elsevier/North‐Holland, 1980.

      83 83. Scriver CR, Neal JL, Saginur R, et al. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J 1973; 108:1111.

      84 84. Khokha MK, Mitchell LE, Wallingford JB. White paper on the study of birth defects. Birth Defects Res 2017; 109:180.

      85 85. Brent RL. The magnitude of the problem of congenital malformations. In: Marois M, ed. Prevention of physical and mental congenital defects. Part A: The scope of the problem. New York: Alan R. Liss, 1985:55.

      86 86. Brent R. Environmental causes of human congenital malformations. Prog Obstet Gynecol 2008; 5:61.

      87 87. Milunsky A, Jick H, Jick SS, et al. Multivitamin/folic acid supplementation in the earliest weeks of pregnancy reduces the prevalence of neural tube defects. JAMA 1989; 262:2847.

      88 88. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991; 338:131.

      89 89. Ray JG, Meier C, Vermeulen MJ, et al. Association of neural tube defects and folic acid food fortification in Canada. Lancet 2002; 360:2047.

      90 90. Rasmussen SA, Moore CA, Paulozzi LJ, et al. Risk for birth defects among premature infants: a population based study. J Pediatr 2001; 138:668.

      91 91. Adams‐Chapman I, Hensen NI, Shankaran S, et al. Ten‐year review of major birth defects in VLBW infants. Pediatrics 2013; 132:49.

      92 92. Toufaily MH, Westgate M, Lin AE, et al. Causes of congenital malformations. Birth Defects Res 2018; 110:87.

      93 93. Glinianaia SV, Rankin J, Wright C. Congenital anomalies in twins: a register‐based study. Hum Reprod 2008; 23:1306.

      94 94. Yu Y, Cozen W, Hwang AE, et al. Birth anomalies in monozygotic and dizygotic twins: results from the California Twin Registry. J Epidemiol 2019; 29:18.

      95 95. Lie RT, Wilcox AJ, Skjaerven R. Survival and reproduction among males with birth defects and risk of recurrence in their children. JAMA 2001; 285:755.

      96 96. Mangones T, Manhas A, Visintainer P, et al. Prevalence of congenital cardiovascular malformations varies by race and ethnicity. Int J Cardiol 2010; 143:317.

      97 97. Kucik JE, Alverson CJ, Gilboa SM, et al. Racial/ethnic variations in the prevalence of selected major birth defects, metropolitan Atlanta, 1994–2005. Public Health Rep 2012; 127:52.

      98 98. Su PY, Huang L, Hao JH, et al. Maternal thyroid function in the first twenty weeks of pregnancy and subsequent fetal and infant development: a prospective population‐based cohort study in China. J Clin Endocrinol Metab 2011; 96:3234.

      99 99. Huget‐Penner S, Feig DS. Maternal thyroid disease and its effects on the fetus and perinatal outcomes. Prenatal Diag 2020; 40:1077.

      100 100. Stoll C, Dott B, Alembik Y, et al. Congenital anomalies associated with congenital hypothyroidism. Ann Genet 1999; 42:17.

      101 101. Olafsson E, Hallgrimsson JT, Hauser WA, et al. Pregnancies of women with epilepsy: a population‐based study in Ireland. Epilepsia 1998; 39:887.

      102 102. Weston J, Bromley R, Jackson CF, et al. Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child. Cochrane Database Syst Rev 2016; 11:CD010224.

      103 103. Shechter‐Maor G, Czuzoj‐Shulman N, Spence AR, et al. The effect of assisted reproductive technology on the incidence of birth defects among livebirths. Arch Gynecol Obstet 2018; 297:1397.

      104 104. Lupo PJ, Schraw JM, Desrosiers TA, et al. Association between birth defects and cancer risk among children and adolescents in a population‐based assessment of 10 million live births. JAMA Oncol 2019; 5:1150.

      105 105. Rasmussen SA, Wong LY, Yang Q, et al. Population based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003; 111:777.

      106 106. Goel N, Morris JK, Tucker D, et al. Trisomy 13 and 18 – prevalence and mortality – a multi‐registry population based analysis. Am J Med Genet A 2019; 179:2382.

      107 107. DeGalan‐Roosen AE, Kuijpers JC, Meershoek AP, et al. Contribution of congenital malformations to perinatal mortality: a 10 years prospective regional study in The Netherlands. Eur J Obstet Gynecol Reprod Biol 1998; 80:55.

      108 108. Dastgiri S, Gilmour WH, Stone DH. Survival of children born with congenital anomalies. Arch Dis Child 2003; 88:391.

      109 109. Liu S, Joseph KS, Wen SW. Trends in fetal and infant deaths caused by congenital anomalies. Semin Perinatol 2002; 26:268.

      110 110. Stoll C, Alembik Y, Dott B, et al. Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet 2002; 45;115.

      111 111. de Vigan C, Khoshnood B, Cadio E, et al. Prenatal diagnosis and prevalence of Down syndrome in the Parisian population, 2001–2005. Gynecol Obstet Fertil 2008; 36:146.

      112 112. Iliyasu Z, Gilmour WH, Stone DH. Prevalence of Down syndrome in Glasgow, 1980–96: the growing impact of prenatal diagnosis on younger mothers. Health Bull (Edinb) 2002; 60:20.

      113 113. Weijerman ME, van Furth AM, Vonk Noordegraaf A, et al. Prevalence, neonatal characteristics and first‐year mortality of Down syndrome: a national study. J Pediatr 2008; 152:15.

      114 114. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down Syndrome in the United States. Genet Med 2017; 19:439.

      115 115. Presson AP, Partyka G, Jensen KM, et al. Current estimate of Down syndrome population prevalence in the United States. J Pediatr 2013; 163:1163.

      116 116. Stoll C, Dott B, Alembik Y, et al. Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet 2015; 58:674.

      117 117. Sasaki A, Sago H. Equipoise of recent estimated Down syndrome live births in Japan. Am J Med Genet 2019; 179A:1815.

      118 118. Migliore L, Migheli F, Coppedè F. Susceptibility to aneuploidy in young mothers of Down syndrome children. Scientific World Journal 2009; 9:1052.

      119 119. Lie RT, Heuch I, Irgens LM. A temporary increase of Down syndrome among births of young mothers in Norway: an effect of risk unrelated to maternal age? Genet Epidemiol 1991; 8:217.

      120 120. Erickson JD. Down syndrome, paternal age, maternal age and birth order. Ann Hum Genet 1978; 41:289.

      121 121. Egan JF, Smith K, Timms D, et al. Demographic differences in Down syndrome livebirths in the US from 1989 to 2006. Prenat Diagn 2011; 31:389.

      122 122. Sparks TN, Norton ME, Flessel M, et al. Observed rate of Down syndrome in twin pregnancies. Obstet Gynecol 2016; 128:1127.

      123 123. Masaki M, Higurashi M, Iijima K, et al. Mortality and survival for Down syndrome in Japan. Am J Hum Genet 1981; 33:629.

      124 124. Dupont A, Vaeth M, Videbech P. Mortality and life expectancy of Down's syndrome in Denmark. J Ment Defic Res 1986; 30:111.

      125 125. Fryers T. Survival in Down's syndrome. J Ment Defic Res 1986; 30:101.

      126 126. Malone Q. Mortality and survival of the Down's syndrome population in Western Australia. J Ment Defic Res 1988; 32:59.

      127 127. Baird PA, Sadovnick AD. Life expectancy in Down syndrome adults. Lancet 1988; 2:1354.

      128 128. Baird PA, Sadovnick AD. Life tables for Down syndrome. Hum Genet 1989; 82:291.

      129 129.