Genetic Disorders and the Fetus. Группа авторов
Verma IC. Burden of genetic disorders in India. Indian J Pediatr 2001; 67:893.
30 30. 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.
31 31. Queisser‐Luft A, Stolz G, Wiesel A, et al. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990–1998). Arch Gynecol Obstet 2002; 266:163.
32 32. Canfield MA, Mai CT, Wang Y, et al. The association between race/ethnicity and major birth defects in the United States, 1999–2007. Am J Public Health 2014; 104:e14.
33 33. Baird PA, Anderson TW, Newcombe HB, et al. Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988; 42:677.
34 34. Blencowe H, Moorthie S, Petrou M, et al. Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. J Community Genet 2018; 9:397.
35 35. Woods CG, Cox J, Springell K, et al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 2006; 78:889.
36 36. Milunsky A. The prevention of genetic disease and mental retardation. Philadelphia: WB Saunders, 1975.
37 37. Myrianthopoulos NC. Malformations in children from one to seven years. New York: Alan R. Liss, 1985.
38 38. Braverman AC, Güven H, Beardslee MA, et al. The bicuspid aortic valve. Curr Probl Cardiol 2005; 30:470.
39 39. Williams DS. Bicuspid aortic valve. J Insur Med 2006; 38:72.
40 40. Debiec R, Sall H, Samani NJ, et al. Genetic insights into bicuspid aortic valve disease. Cardiol Rev 2017; 25:158.
41 41. Freeze SL, Landis BJ, Ware SM, et al. Bicuspid aortic valve: A review with recommendations for genetic counseling. J Genet Counsel 2016; 25:1171.
42 42. Delling FN, Vasan RS. Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics and molecular basis. Circulation 2014; 129:2158.
43 43. Marelli AJ, Ionescu‐Ittu R, Mackie AS, et al. Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010. Circulation 2014; 130:749.
44 44. Reller MD, Strickland MJ, Riehle‐Colarusso T, et al. Prevalence of congenital heart defects in metropolitan Atlanta, 1998–2005. J Pediatr 2008; 153:807.
45 45. Moons P, Sluysmans T, De Wolf D, et al. Congenital heart disease in 111,225 births in Belgium: birth prevalence, treatment and survival in the 21st century. Acta Paediatr 2009; 98:472.
46 46. Morris JK, Wellesley DG, Barisic I, et al. Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population‐based EUROCAT study. Arch Dis Child 2019; 104:1181.
47 47. Sigmon ER, Kelleman M, Susi A, et al. Congenital heart disease and autism: a case‐control study. Pediatrics 2019; 144:pii e20184114.
48 48. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39:1890.
49 49. Pierpont ME, Brueckner M, Chung WK, et al. Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association. Circulation 2018; 138:e653.
50 50. Wang Y, Cao L, Liang D, et al. Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study. Am J Obstet Gynecol 2018; 218(2):244.e1.
51 51. Cowan JR, Ware SM. Genetics and genetic testing in congenital heart disease. Clin Perinatol 2015; 42:373.
52 52. Jin SC, Homsy J, Zaidi S, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 2017; 49:1593.
53 53. Tinker SC, Gilboa SM, Moore CA, et al. Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997–2011. Am J Obstet Gynecol 2020; 222:176.e1.
54 54. Stothard KJ, Tennant PW, Bell R, et al. Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta‐analysis. JAMA 2009; 301:636.
55 55. Watkins ML, Rasmussen SA, Honein MA, et al. Maternal obesity and risk for birth defects. Pediatrics 2003; 111:1152.
56 56. Moore LL, Singer MR, Bradlee ML, et al. A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology 2000; 11:689.
57 57. Moore LL, Bradlee ML, Singer MR, et al. Chromosomal anomalies among the offspring of women with gestational diabetes. Am J Epidemiol 2002; 155:719.
58 58. Correa A, Marcinkevage J. Prepregnancy obesity and the risk of birth defects: an update. Nutr Rev 2013; 71(Suppl 1):S68.
59 59. Gao LJ, Wang ZP, Lu QB, et al. Maternal overweight and obesity and the risk of neural tube defects: a casecontrol study in China. Birth Defects Res A Clin Mol Teratol 2013; 97:161.
60 60. Madsen NL, Schwartz SM, Lewin MB, et al. Prepregnancy body mass index and congenital heart defects among offspring: a population‐based study. Congenit Heart Dis 2013; 8:131.
61 61. Josefsson A, Bladh M, Wiréhn A‐B, et al. Risk for congenital malformations in offspring of women who have undergone bariatric surgery: a national cohort. BJOG 2013; 120:1477.
62 62. McMahon DM, Liu J, Zhang H, et al. Maternal obesity, folate intake, and neural tube defects in offspring. Birth Defects Res A Clin Mol Teratol 2013; 97:115.
63 63. Mills JL, Troendle J, Conley MR, et al. Maternal obesity and congenital heart defects: a population‐based study. Am J Clin Nutr 2010; 91:1543.
64 64. Persson M, Cnattingius S, Villamor E, et al. Risk of major congenital malformation in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons. BMJ 2017; 357:j2563.
65 65. Zheng Z, Yang T, Chen L, et al. Increased maternal body mass index is associated with congenital heart defects: an updated meta‐analysis of observational studies. Int J Cardiol 2018; 273:112.
66 66. Block SR, Watkins SM, Salemi JL, et al. Maternal prepregnancy body mass index and risk of selected birth defects: evidence of a dose–response relationship. Paediatr Perinat Epidemiol 2013; 27:521.
67 67. Cai GJ, Sun XX, Zhang L, et al. Association between maternal body mass index and congenital heart defects in offspring: a systematic review. Am J Obstet Gynecol 2014; 211:91.
68 68. Milunsky A. Glucose intolerance in the parents of children with Down's syndrome. Am J Mental Def 1970; 74:475.
69 69. Biggio JR Jr, Chapman V, Neely C, et al. Fetal abnormalities in obese women: the contribution of diabetes. Obstet Gynecol 2010; 115:290.
70 70. Auger N, Bilodeau‐Bertrand M, Tith RM, et al. Bariatric surgery and the risk of congenital anomalies in subsequent pregnancies. Am J Clin Nutr 2019; 110:1168.
71 71. Benjamin RH, Littlejohn S, Mitchell LE. Bariatric surgery and birth defects: a systematic literature review. Paediatr Perinat Epidemiol 2018; 32:533.
72 72. Neovius M, Pasternak B, Näslund I, et al. Association of maternal gastric bypass surgery with offspring birth defects. JAMA 2019; 322:1515.
73 73. Wang M, Wang, ZP, Gao LJ, et al. Maternal body mass index and the association between folic acid supplements and neural tube defects. Acta Paediatr 2013; 102:908.
74 74. Lam PK, Torfs C, Brand RJ. A low pregnancy body mass index is a risk factor for an offspring with gastroschisis. Epidemiology 1999; 10(6):717.
75 75. Anderson JE, Galganski LA, Cheng Y, et al. Epidemiology of gastroschisis: a population‐based study in California from 1995–2012. J Pediatr Surg 2018; 53:2399.
76 76. Perry MF, Mulcahy H, DeFranco EA. Influence of periconception smoking behavior on birth defect risk. Am J Obstet Gynecol 2019; 220:588.e1.
77 77. Hackshaw A, Rodeck C, Boniface S. Maternal smoking in pregnancy and birth defects: a systemic review based on 173,687 malformed cases and 11.7 million controls. Hum Reprod Update 2011; 17:589.
78 78.