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Incidence of congenital heart disease: II. Prenatal incidence

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Abstract

The incidence of congenital heart disease appears to be about 1 per 100 liveborn infants. In infants who die before term, however, there is a much higher incidence of congenital heart disease, with a tendency for an excess of complex lesions. Some but not all of these lesions are associated with gross chromosomal abnormalities, which occur frequently in first-trimester abortions. Most of these chromosomal abnormalities are associated with such maldevelopment of many organ systems that fetal death occurs in utero. Monosomy X (45, XO), has a high association with congenital heart disease. Most fetuses with this abnormality die in utero, but because the abnormality is not inevitably lethal a small increase in survival of these fetuses would cause a large increase in the total incidence of congenital heart disease.

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References

  1. Alberman ED, Creasy MR (1977) Frequency of chromosomal abnormalities in miscarriages and perinatal deaths.J Med Genet 14:313–315

    Google Scholar 

  2. Atkins DL, Clark EB, Marvin WJ (1982) Foramen ovale/atrial septum ratio: a marker of transatrial blood flow.Circulation 66:281–283

    Google Scholar 

  3. Baldwin HS, Shen HM, Albelda S, Buck C (1993) The murine platelet endothelial cell adhesion molecule is developmentally regulated during early cardiac morphogenesis.Cardiol Young 3 (Suppl 1):99

    Google Scholar 

  4. Berg JM, Crome L, France LE (1960) Congenital malformations in mongolism.Br Heart J 22:331–346

    Google Scholar 

  5. Berg KA, Clark EB, Astemborski JA, Boughman JA (1988) Prenatal detection of cardiovascular malformations by echocardiography: an indication for cytogenetic evaluation.Am J Obstet Gynecol 159:477–481

    Google Scholar 

  6. Bierman JM, Siegel E, French FE, Simonian K (1965) Analysis of the outcome of all pregnancies in a community: Kauai pregnancy study.Am J Obstet Gynecol 91:37–45

    Google Scholar 

  7. Boué A, Boué J, Gropp A (1985) Cytogenetics of pregnancy wastage. In: Harris H, Hirschhorns K (eds)Cytogenetics of Pregnancy Wastage. Plenum Press, New York, pp 1–57

    Google Scholar 

  8. Boué J, Boué A (1973) Anomalies chromosomique dans les avortements spontanes. In: Boué A, Thibaults C (eds)anomalies Chromosomique dans les Avortements Spontanes. INSERM, Paris, pp 29–55

    Google Scholar 

  9. Boué J, Boué A, Lazar P (1975) Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions.Teratology 12:11–26

    Google Scholar 

  10. Bound JP, Logan WFWE (1977) Incidence of congenital heart disease in Blackpool 1947–1971.Br Heart J 39:445–450

    Google Scholar 

  11. Broekhuizen M, Mast F, Gittenberger-de Groot A, Wladimiroff J (1993) Hemodynamic changes in stage 35 chick embryos after treatment with all-trans retinoic acid.Cardiol Young 3(Suppl 1):42 [abstract]

    Google Scholar 

  12. Burgoyne PS, Holland K, Stephens R (1991) Incidence of numerical chromosome anomalies in human pregnancy estimation from induced and spontaneous abortion data.Hum Reprod 6:555–565

    Google Scholar 

  13. Byrne J, Warburton D, Kline J, Blanc W, Stein Z (1985) Morphology of early fetal ceaths and their chromosomal characteristics.Teratology 32:297–315

    Google Scholar 

  14. Chinn A, Fitzsimmons J, Shepard T, Fantel A (1989) Congenital heart disease among spontaneous abortuses and stillborn fetuses: prevalence and associations.Teratology 40:475–482

    Google Scholar 

  15. Chisaka O, Capecchi MR (1991) Regionally restricted developmental defects results from targeted disruption of the mouse homeobox gene hox-1.5.Nature 350:473–479

    Google Scholar 

  16. Clark EB (1984) Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome?Teratology 29:355–361

    Google Scholar 

  17. Clawson B (1944) Types of congenital heart disease in 15,597 autopsies.Lancet 64:134–136

    Google Scholar 

  18. Creasy MR, Crolla JA, Alberman ED (1976) A cytogenetic study of human spontaneous abortions using banding techniques.Hum Genet 31:171–182

    Google Scholar 

  19. Curry CJR (1992) Pregnancy loss, stillbirth, and neonatal death.Pediatr Clin North Am 39:157–192

    Google Scholar 

  20. Eiben B, Borgmann S, Schubbe I, Hansmann I (1987) A cytogenetic study directly from chorionic villi of 140 spontaneous abortions.Hum Genet 77:137–141

    Google Scholar 

  21. Elandt-Johnson RC (1975) Definition of rates: some remarks on their use and misuse.Am J Epidemiol 102:267–271

    Google Scholar 

  22. Fantel AG, Shepard TH, Vadheim-Roth C, Stephens TD, Coleman C (1980) Embryonic and fetal phenotypes: prevalence and other associated factors in a large study of spontaneous abortion. In: Porter IH, Hooks EB (eds)Human embryonic and fetal death. Academic Press, Orlando, FL, pp 71–87

    Google Scholar 

  23. Ferguson-Smith MA, Yates JRW (1984) Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52 965 amniocenteses.Prenat Diagn Special Issue 4:5–44

    Google Scholar 

  24. Friedrich U, Nielsen J (1973) Chromosome studies in 5,409 consecutive newborn children.Clin Genet 4:333–343

    Google Scholar 

  25. Gerald P, Walzer S (1970) Chromosome studies of normal newborn infants. In: Jacobs PA, Price WH, Laws P (eds)Chromosome Studies of Normal Newborn Infants. Edinburgh University Press, Edinburgh, pp 143–151

    Google Scholar 

  26. Gerlis LM (1985) Cardiac malformations in spontaneous abortions.Int J Cardiol 7:29–43

    Google Scholar 

  27. Golbus MS (1981) Chromosome aberrations and mammalian reproduction. In: Mastroianni LJ, Biggers JD (eds)Chromosome Aberrations and Mammalian Reproduction. Plenum Press, New York, pp 257–272

    Google Scholar 

  28. Guerneri S, Bettio D, Simoni G, et al (1987) Prevalence and distribution of chromosome abnormalities in a sample of first trimester abortions.Hum Reprod 2:735–739

    Google Scholar 

  29. Gustavii B (1984) Chorionic biopsy and miscarriage in the first trimester.Lancet 1:562

    Google Scholar 

  30. Hamerton JL, Ray M, Abbott J, Williamson C, Ducasse GC (1972) Chromosome studies in a neonatal population.Can Med Assoc J 106:776–779

    Google Scholar 

  31. Harlap S, Shion P, Ramcharan S (1980) A life table of spontaneous abortions and the effects of age parity, and other variables. In: Porter IH, Hooks EB (eds)Human embryonic and fetal death. Academic Press, Orlando, FL, pp 145–159

    Google Scholar 

  32. Hassold T, Chen N, Funkhouser J, et al (1980) A cytogenetic study of 1000 spontaneous abortions.Ann Hum Genet 44:151–178

    Google Scholar 

  33. Hoffheinz HJ, Glaser E, Rodewald G (1964) Uber die Haufigkeit angeborener Herzfehler in Hamburger Sektionsgut.Zentralbl Chir 89:326–340

    Google Scholar 

  34. Hoffman JIE, Christianson R (1978) Congenital heart disease in a cohort of 19,502 births with long-term follow-up.Am J Cardiol 42:641–647

    Google Scholar 

  35. Hook EB (1978) Estimates of maternal age-specific risks of a Down's syndrome birth in women aged 34–41.Lancet 2:33–34

    Google Scholar 

  36. Hook EB (1978) Rates of Downs' syndrome in livebirths and at mid trimester amniocentesis.Lancet 1:1053–1054

    Google Scholar 

  37. Hook EB (1981) Prevalence of chromosome abnormalities during human gestation and implications for studies of environmental mutagnes.Lancet 2:169–172

    Google Scholar 

  38. Hook EB (1982) Incidence and prevalence as measures of the frequency of birth defects.Am J Epidemiol 116:743–747

    Google Scholar 

  39. Hook EB (1983) Chromosome abnormalities and spontaneous fetal death following amniocentesis: further data and associations with maternal age.Am J Hum Genet 35:110–116

    Google Scholar 

  40. Hook EB, Lindsjö A (1978) Down syndrome in live births by single year maternal age interval in a Swedish study: comparison with results from a New York state study.Am J Hum Genet 30:19–27

    Google Scholar 

  41. Hook EB, Warburton D (1983) The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.Hum Genet 64:24–27

    Google Scholar 

  42. Jackson M, Connell MG, Smith A, Anderson RH (1993) Absence of outlet septum—consistency of effect induced by the drug bis-diamine.Cardiol Young 3(Suppl 1):124 [abstract]

    Google Scholar 

  43. Jacobs PA, Melville M, Ratcliffe S (1974) A cytogenetic survey of 11,680 newborn infants.Ann Hum Genet 37:359–376

    Google Scholar 

  44. Kajii T, Ferrier A, Niikawa N, et al (1980) Anatomic and chromosomal anomalies in 639 spontaneous abortuses.Hum Genet 55:87–98

    Google Scholar 

  45. Kajii T, Ohama K, Mikame K (1978) Anatomic and chromosomal abnormalities in 944 induced abortuses.Hum Genet 43:247–258

    Google Scholar 

  46. Kirby ML (1987) Cardiac morphogenesis—recent research advances.Pediatr Res 21:219–224

    Google Scholar 

  47. Kurnit DM, Aldridge JF, Matsuoka R, Matthysse S (1985) Increased adhesiveness of trisomy 21 cells and atrioventricular canal malformations in Down syndrome: a stochastic model.Am J Med Genet 20:385–399

    Google Scholar 

  48. Kurnit DM, Layton WM, Matthysse S (1987) Genetics, chance and morphogenesis.Am J Hum Genet 41:979–995

    Google Scholar 

  49. Lacro DV, Jones KL, Benirschke K (1988) Coarctation of the aorta in Turner syndrome; a pathologic study of fetuses with nuchal cystic hygroma, hydrops fetalis, and female genitalia.Pediatrics 81:445–451

    Google Scholar 

  50. Lammar EJ, Chen DT, Hoar RM, et al (1986) Retinoic acid embryopathy: a new human teratogen and a mechanistic hypothesis.N Engl J Med 313:837–841

    Google Scholar 

  51. Lubs HA, Ruddle FH (1970) Applications of quantitative karyotypy to chromosome variation in 4400 consecutive newborns. In: Jacobs PA, Price WH, Laws P (eds)Human population cytogenetics. Edinburgh University Press, Edinburgh, pp 119–142

    Google Scholar 

  52. Mikamo K (1970) Anatomic and chromosomal studies in spontaneous abortion.Am J Obstet Gynecol 106:243–254

    Google Scholar 

  53. Miller JF, Williamson E, Clue J, et al (1980) Fetal loss after implantation: a prospective study.Lancet 2:554–556

    Google Scholar 

  54. Miller MJ, Geffner ME, Lippe BM, et al (1983) Echocardiography reveals a high incidence of bicuspid aortic valve in Turner's syndrome.J Pediatr 102:47–50

    Google Scholar 

  55. Mitchell SC, Korones SB, Berendes HW (1971) Congenital heart disease in 56,109 births: incidence and natural history.Circulation 43:323–332

    Google Scholar 

  56. Miyabara S, Sugihara H, Maehara N, et al (1989) Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis.Am J Med Genet 34:489–501

    Google Scholar 

  57. Miyabara S, Suzumori K, Winking H, Nakayama M (1993) Structural defects of the vascular system in 45,X fetuses: integrated interpretation of the pathogenesis. In: Hibi I, Takano K (eds)Basic and clinical approaches to Turner syndrome. Elsevier, Amsterdam, pp 61–68

    Google Scholar 

  58. Nielsen J, Wohlert M, Faaborg-Andersen J, Hansen K, Hvidman L (1982) Incidence of chromosome abnormalities in new-born children: comparison between incidences in 1969–1974 and 1080–1982 in the same area.Hum Genet 61:98–101

    Google Scholar 

  59. Ohno M, Maeda T, Matsunobu A (1991) A cytogenetic study of spontaneous abortions with direct analysis of chorionic villi.Obstet Gynecol 77:394–398

    Google Scholar 

  60. Poland BJ, Lowry RB (1974) The use of spontaneous abortions and stillbirths in genetic counselling.Am J Obstet Gynecol 118:322–326

    Google Scholar 

  61. Roberts CJ, Lowe CR (1975) Where have all the conceptions gone?Lancet 1:498–499

    Google Scholar 

  62. Šamánek M, Goetzova J, Benesova D (1985) Distribution of congenital heart malformations in an autopsied child population.Int J Cardiol 8:235–248

    Google Scholar 

  63. Schulman J, Shaw G, Selvin S (1988) On “rates” of birth defects.Teratology 38:427–429

    Google Scholar 

  64. Sergovich F, Valentine GH, Chen ATL, Kinch RAH, Smout MS (1969) Chromosome aberrations in 2159 consecutive newborn babies.N Engl J Med 280:851–855

    Google Scholar 

  65. Simpson JL (1990) Genetic causes of spontaneous abortion.Contemp Obstet Gynecol 35:25–40

    Google Scholar 

  66. Stein Z, Kline J, Susser E, et al (1980) Maternal age and spontaneous abortion. In: Porter IH, Hooks EB (eds)Human embryonic and fetal death. Academic Press, Orlando, FL, pp 107–127

    Google Scholar 

  67. Stein Z, Susser M, Warburton D, Wittes J, Kline J (1975) Spontaneous abortion as a screening device: the effect of fetal survival on the incidence of birth defects.Am J Epidemiol 102:275–290

    Google Scholar 

  68. Takahara OH, Ohama K, Fujiwara A (1977) Cytogenetic study in early spontaneous abortion.Hiroshima J Med Sci 26:291–296

    Google Scholar 

  69. Takano K, Nakao T, Sakakibara T, Kurotani Y, Nishimura H (1967) Incidence of cardiovascular malformations in human embryos.Proc Cong Anom Res Assoc Jap 7:38

    Google Scholar 

  70. Ursell P, Byrne J, Strobino B (1985) Significance of cardiac defects in the developing fetus: a study of spontaneous abortuses.Circulation 72:1232–1236

    Google Scholar 

  71. Warburton D, Stein Z, Kline J, Susser M (1980) Chromosome abnormalities in spontaneous abortion: data from their New York City study. In: Porter IH, Hooks EB (eds)Human embryonic and fetal death. Academic Press, Orlando, FL, pp 261–285

    Google Scholar 

  72. Wilcox AJ, Weinberg CR, O'Connor JF, et al (1988) Incidence of early loss of pregnancy.N Engl J Med 319:189–194

    Google Scholar 

  73. Wilson D, Goodship J, Takao A, et al (1993) Identification of interstitial 22q11 deletion in conotruncal anomaly faces syndrome.Cardiol Young 3(Suppl 1):86

    Google Scholar 

  74. Wilson DI, Goodship JA, Burn J, Cross IE, Scambler PJ (1992) Deletions within chromosome 22q11 in familial congenital heart disease.Lancet 340:573–575

    Google Scholar 

  75. Wilson M, Lubschez R (1942) Prognosis for children with congenital anomalies of the heart and central vessels.J Pediatr 21:23–30

    Google Scholar 

  76. Yamamoto M, Ito T, Watanabe M, Watanabe G (1982) Cause of chromosome anomalies suggested by cytogenetic epidemiology of induced abortions.Hum Genet 60:360–363

    Google Scholar 

  77. Yamamoto M, Watanabe G (1979) Epidemiology of gross chromosome anomalies at the early embryonic stage of pregnancy. In: Klingberg MA, Wearhenall IAC (eds)Contrib Epidemiol Biostatrst 1979, Karger, pp 101–106

  78. Yasuda M, Poland B (1975) Cardiovascular malformations in spontaneously aborted human fetuses.Anat Anz 137:429–433

    Google Scholar 

  79. Zhou X, Tong H, Wong S, et al (1989) Chromosome abnormalities in early pregnancy analyzed by direct chromosome preparation of chorionic villi.Hum Genet 83:277–279

    Google Scholar 

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Hoffman, J.I.E. Incidence of congenital heart disease: II. Prenatal incidence. Pediatr Cardiol 16, 155–165 (1995). https://doi.org/10.1007/BF00794186

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