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Genes, Chromosomes and IUGR

  • John Wolstenholme
  • Chris Wright

Abstract

The growth potential of the fetus is determined by genetic factors, but fulfilment of this potential is dependent on maternal and environmental factors, as dis­cussed in Ch. 4 [1,2]. Winick [3] proposed the model that envisaged early fetal growth (including the embryonic phase and organogenesis) as predominantly a consequence of cell proliferation (hyperplasia), the latter part of pregnancy (from about 32 weeks) as a period of cell growth (hypertrophy), and an intermediate phase with significant contributions from both hyperplasia and hypertrophy. Agents that damage the fetus during the first trimester phase of cell proliferation may reduce the cell population and permanently impede growth potential, while those acting in late pregnancy reduce cell size, with the likelihood of later catch-up growth [4].

Keywords

Fetal Growth Abnormal Cell Fetal Growth Restriction Inner Cell Mass Intrauterine Growth Restriction 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Polani PE. Chromosomal and other genetic influences on birth weight variation. In: Elliott K, Knight J, editors. Size at birth. Ciba Foundation Symposium 27 (new series). Amsterdam: Elsevier, 1974;127–64. Google Scholar
  2. 2.
    Magnus P. Further evidence for a significant effect of fetal genes on variation in birth weight. Clin Genet 1984;26:289–96.PubMedCrossRefGoogle Scholar
  3. 3.
    Winick M. Nutrition and fetal development. New York: Wiley, 1974.Google Scholar
  4. 4.
    Singer DB, Sung CJ, Wigglesworth JS. Fetal growth and maturation: with standards for body and organ development. In: Wigglesworth JS, Singer DB, editors. Textbook of fetal and perinatal pathology. Boston: Blackwell, 1991; 11–47.Google Scholar
  5. 5.
    Naeye RL. Prenatal organ and cellular growth with various chromosomal disorders. Biol Neonat 1967;11:248–60.PubMedCrossRefGoogle Scholar
  6. 6.
    Naeye RL, Blanc WA. Pathogenesis of congenital rubella. JAMA 1965;194:1277–83.PubMedCrossRefGoogle Scholar
  7. 7.
    Naeye RL. Effects of maternal nutrition on the human fetus. Pediatrics 1973;52:494–503.PubMedGoogle Scholar
  8. Naeye RL. Malnutrition. Probable cause of fetal growth retardation. Arch Pathol 1965;79:284–91.Google Scholar
  9. 9.
    Eydoux P, Choiset A, Le Porrier N, Thepot F, Szpiro-Tapia S, Alliet J, et al. Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment. Prenat Diagn 1989;9:255–68.PubMedCrossRefGoogle Scholar
  10. 10.
    Snijders RJM, Sherrod C, Gosden CM, Nicolaides KH. Fetal growth retardation: associated malformations and chromosomal abnormalities. Am J Obstet Gynecol 1993;168:547–55.PubMedGoogle Scholar
  11. 11.
    Heydanus R, van Splunder IP, Wladimiroff JW. Tertiary centre referral of small-for-gestational age pregnancies: a 10-year retrospective analysis. Prenat Diagn 1994;14:105–8.PubMedCrossRefGoogle Scholar
  12. 12.
    Wright EV. Chromosomes and human fetal development. In: Roberts DF, Thomson AM, editors. The biology of human fetal growth. London: Taylor & Francis, 1976;237–52.Google Scholar
  13. 13.
    Kuhn P, Brizot M deL, Pandya PP, Snijders RJ, Nicolaides KH. Crown-rump length in chromosomally abnormal fetuses at 10 to 13 weeks’ gestation. Am J Obstet Gynecol 1995;172:32–5.PubMedCrossRefGoogle Scholar
  14. 14.
    Schemmer G, Wapner RJ, Johnson A, Schemmer M, Norton HJ, Anderson WE. First-trimester growth patterns of aneuploid fetuses. Prenat Diagn 1997;17:155–9.PubMedCrossRefGoogle Scholar
  15. Bahado-Singh RO, Lynch L, Deren O, Morroti R, Copel JA, Mahoney M J, Williams J III. First- trimester restriction and fetal aneuploidy: the effect of type of aneuploidy and gestational age. Am J Obstet Gynecol 1997;176:976–80. PubMedCrossRefGoogle Scholar
  16. 16.
    Twining P. Ultrasound diagnosis of chromosomal disease. In: Reed GB, Claireaux AE, Cockburn F, editors. Diseases of the fetus and newborn. London: Chapman and Hall, 1996;939–53.Google Scholar
  17. 17.
    Chen ATL, Chan Y-K, Falek A. The effects of chromosome abnormalities on birth weight in man. II. Autosomal defects. Hum Hered 1972;22:209–24.CrossRefGoogle Scholar
  18. 18.
    Kucera J, Dolezalova V. Prenatal development of malformed fetuses at 28–42 weeks of gestational age (anencephalus, hydrocephalus, Down’s syndrome, cleft lip and palate, and hypospadia). I Weight gains. Biol Neonate 1972;20:253–61.Google Scholar
  19. 19.
    Matsunaga E, Tonomura A. Parental age and birth weight in translocation Down’s syndrome. Ann Hum Genet 1972;36:209–19.PubMedCrossRefGoogle Scholar
  20. Roberts DF. The genetics of human fetal growth. In: Falkner F, Tanner JM, editors. Human Growth. A comprehensive treatise: vol 3: Methodology. Ecological, genetic, and nutritional effects on growth, 2nd edn. New York: Plenum Press, 1986;113–43.Google Scholar
  21. 21.
    Gilbert-Barness E. Chromosomal abnormalities. In: Gilbert-Barness E, editors. Potter’s pathlogy of the fetus and infant, Mosby, St Louis: Mosby, 1997;388–432.Google Scholar
  22. 22.
    Niebuhr E. Triploidy in man. Humangenetik 1974;21:103–25.CrossRefGoogle Scholar
  23. 23.
    Jacobs PA, Angell RR, Buchanan IM, Hassold TJ, Matsuyama AM, Manuel B. The origin of human triploids. Ann Hum Genet 1978;42:49–57.PubMedCrossRefGoogle Scholar
  24. 24.
    Jauniaux E, Brown R, Rodeck C, Nicolaides KH. Prenatal diagnosis of triploidy during the second trimester of pregnancy. Obstet Gynecol 1996;88:983–9.PubMedCrossRefGoogle Scholar
  25. 25.
    McFadden DE, Kwong LC, Yam IYL, Langlois S Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum Genet 1993;92:465–9.PubMedCrossRefGoogle Scholar
  26. 26.
    Fitzsimmons J, Fantel A, Shepard TH. Growth parameters in mid-trimester fetal Turner syndrome. Early Hum Dev 1994;38:121–9.PubMedCrossRefGoogle Scholar
  27. 27.
    de la Chapelle A. Sex chromosome abnormalities. In: Emery AEH, Rimoin DL, editors. Principle and practice of medical genetics. Edinburgh: Churchill Livingstone, 1990;273–99.Google Scholar
  28. 28.
    Chen ATL, Chan Y-K, Falek A. The effects of chromosome abnormalities on birth weight. I. Sex chromosome disorders. Hum Hered 1971;21:543–56.Google Scholar
  29. Barlow PW. The influence of inactive chromosomes on human development. Anomalous sex chromosome complements and the phenotype. Hum Genet 1973;17:105–36.CrossRefGoogle Scholar
  30. 30.
    Kalousek DK, Dill FJ. Chromosomal mosaicism confined to the human placenta in human conceptions. Science 1983;221:665–7.PubMedCrossRefGoogle Scholar
  31. 31.
    Wolstenholme J, Rooney DE, Davison EV. Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective UK collaborative study. Prenat Diagn 1994;14:345–61.PubMedCrossRefGoogle Scholar
  32. 32.
    Association of Clinical Cytogeneticists Working Party on chorionic villi in Prenatal Diagnosis (1994) Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of UK data. Prenat Diagn 14:363–79.Google Scholar
  33. 33.
    Ledbetter DH, Zachary JM, Simpson JL, Golbus MS, Pergament E, Jackson L, et al. Cytogenetic results from the US collaborative study on CVS. Prenat Diagn 1992;12:317–45.PubMedCrossRefGoogle Scholar
  34. 34.
    Hahnemann JM, Vejerslev LO. Accuracy of cytogenetic findings on chorionic villus sampling (CVS) - diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986–1992. Prenat Diagn 1997;17:801–20.PubMedCrossRefGoogle Scholar
  35. Johnson A, Wapner RJ., Davis GH, Jackson LG. Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol 1990;75:573–7.Google Scholar
  36. 36.
    Fryburg JS, Dimaio MS, Yang-Feng TL, Mahoney MJ. Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling. Prenat Diagn 1993;13:481–94.PubMedCrossRefGoogle Scholar
  37. 37.
    Crane JP, Cheung SW. An embryonic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue. Prenat Diagn 1988;8:119–29.PubMedCrossRefGoogle Scholar
  38. 38.
    Simoni G, Sirchia SM. Confined placental mosaicism. Prenat Diagn 1994;14:1185–9.PubMedCrossRefGoogle Scholar
  39. 39.
    Wolstenholme J. Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins and mechanisms for cell lineage compartmentalisation. Prenat Diagn 1996;16:511–24.PubMedCrossRefGoogle Scholar
  40. 40.
    Wolstenholme J. An audit of trisomy 16 in man. Prenat Diagn 1995;15:109–21.PubMedCrossRefGoogle Scholar
  41. 41.
    Delhanty JDA, Handyside AH. The origin of genetic defects in the human and their detection in the preimplantation embryo. Hum Reprod Update 1995;1:201–15.PubMedCrossRefGoogle Scholar
  42. 42.
    Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993;52:8–16.PubMedGoogle Scholar
  43. 43.
    Kalousek DK, Barrett I. Genomic imprinting related to prenatal diagnosis. Prenat Diagn 1994;14:1191–201.PubMedCrossRefGoogle Scholar
  44. 44.
    van Opstal D, van den Berg C, Deelen WH, Brandenburg H, Cohen-Overbeek TE, Halley DJJ, et al. Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy. Prenat Diagn 1998;18:35–44.PubMedCrossRefGoogle Scholar
  45. 45.
    Groli C, Cerri V, Tarantini M, Bellotti D, Jacobello C, Gianello R, et al. Maternal serum screening and trisomy 16 confined to the placenta. Prenat Diagn 1996;16:685–9.PubMedCrossRefGoogle Scholar
  46. 46.
    Williams J III, Wang BBT, Rubin CH, Clark RD, Mohandas TK. Apparent non-mosaic trisomy 16 in chorionic villi: diagnostic dilemma or clinically significant finding? Prenat Diagn 1992;12:163–8.PubMedCrossRefGoogle Scholar
  47. 47.
    Paulyson KJ, Sherer DM, Christian SL, Lewis KM, Ledbetter DH, Salafia CM, et al. Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin. Prenat Diagn 1996;16:1021–6.PubMedCrossRefGoogle Scholar
  48. 48.
    Vaughan JI, Ali Z, Bower S, Bennett P, Chard T, Moore G. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 1994;14:751–6.PubMedCrossRefGoogle Scholar
  49. 49.
    Woo V, Bridge PJ, Bamforth JS. Maternal uniparental disomy for chromosome 16: case report. Am J Med Genet 1997;70:387–90.PubMedCrossRefGoogle Scholar
  50. Sánchez JM, López de Díaz S, Panal MJ, Moya G, Kenny A, Iglesias D, et al. Severe fetal malformations associated with trisomy 16 confined to the placenta. Prenat Diagn 1997;17:777–9.Google Scholar
  51. Kalousek DK, Langlois S, Robinson WP, Telenius A, Bernard L. Barrett I J, et al. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 1990;65:348–52.Google Scholar
  52. 52.
    Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 1995;32:871–5.PubMedCrossRefGoogle Scholar
  53. 53.
    Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, et al. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995;4:583–7.PubMedCrossRefGoogle Scholar
  54. 54.
    Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC et al. Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 1997;34:6–9.PubMedCrossRefGoogle Scholar
  55. 55.
    Spence JE, Perciaccante RG, Greig GM, Willad HF, Ledbetter DH, Hejtmancik JF, et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988;42:217–26.PubMedGoogle Scholar
  56. 56.
    Hoglund P, Holmberg C, de la Chapelle A, Kere J. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhoea. Am J Hum Genet 1994;55:747–52.PubMedGoogle Scholar
  57. 57.
    Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ. Uniparental disomy for paternal 7p and maternal 7q in a child with mental retardation. Am J Hum Genet 1994;55:253–65.PubMedGoogle Scholar
  58. Kobayashi S, Kohda T, Miyoshi N, Kuroiwa Y, Aisaka K, Tsutsumi 0, et al. Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet 1997;6:781–6.CrossRefGoogle Scholar
  59. 59.
    Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BCJ, et al. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. Eur J Hum Genet 1998;6:114–20.PubMedCrossRefGoogle Scholar
  60. 60.
    Shaffer LG, Langlois S, McCaskill C, Main DM, Robinson WP, Barrett IJ, et al. Analysis of nine pregnancies with confined placental mosaicism for trisomy 2. Prenat Diagn 1996;16:899–905.PubMedCrossRefGoogle Scholar
  61. 61.
    Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J. Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Prenat Diagn 1996;16:958–62.PubMedCrossRefGoogle Scholar
  62. 62.
    Hansen WF, Bernard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, et al. Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 1997;17:443–50.PubMedCrossRefGoogle Scholar
  63. 63.
    Gibbons B, Cheng HH, Yoong AKH, Brown S. Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus. Prenat Diagn 1997;17:689–90.PubMedCrossRefGoogle Scholar
  64. 64.
    Ariel I, Lerer I, Yagel S, Cohen R, Ben-Neriah Z, Abelovich D. Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation. Prenat Diagn 1997;17:180–3.PubMedCrossRefGoogle Scholar
  65. 65.
    Harrison K, Eisenger K, Anyane-Yeboa K, Brown S. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet 1995;58:147–51.PubMedCrossRefGoogle Scholar
  66. 66.
    Bernasconi F, Karagiizel A, Celep F, Keser I, Liileci G, Dutly F, et al. Normal phenotype with internal isodisomy in a female with two isichromosomes: i(2p) and i(2q). Am J Hum Genet 1996;59:1114–18.PubMedGoogle Scholar
  67. EUCROMIC The origins of trisomy 15 CPM and the risk of fetal UPD. Prenat Diagn 1999:19:29–35.Google Scholar
  68. 68.
    Appleman Z, Rosensaft J, Chemke J, Caspi B, Ashkenazi M, Mogilner MB. Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up. Am J Med Genet 1991;40:464–6.CrossRefGoogle Scholar
  69. 69.
    Stioui S, De Silvestris M, Molinari A, Stripparo L, Ghisoni L, Simoni G. Trisomie 22 placenta in a case of severe intrauterine growth retardation. Prenat Diagn 1989;9:673–6.PubMedCrossRefGoogle Scholar
  70. 70.
    de Pater JM, Schuring-Blom GH, van den Bogaard R, van der Sijs-Bos CJM, Christiaens GCML, Stoutenbeek P, et al. Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22. Prenat Diagn 1997;17:81–6.PubMedCrossRefGoogle Scholar
  71. Tarina L, Colloridi F, Raguso G, Rizzuti A, Bruni L, Tozzi MC, et al. Trisomy 9 mosaic syndrome. A case report and review of the literature. Ann Génét 1994;37:14–20.Google Scholar
  72. 72.
    Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J. A case of paternal uniparental disomy for chromosome 11. Prenat Diagn 1995;15:773–7.PubMedCrossRefGoogle Scholar
  73. 73.
    Artan S, Basaran N, Hassa H, Özalp S, Sener T, Sayli BS, et al. Confined placental mosaicism in term placentae: analysis of 125 cases. Prenat Diagn 1995;15:1135–42.PubMedCrossRefGoogle Scholar
  74. 74.
    Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P. Maternal uniparental disomy for chromosome 14. J Med Genet 1991;28:511–14.PubMedCrossRefGoogle Scholar
  75. 75.
    Henderson JD, Sherman LS, Loughna SC, Bennett PR, Moore EG. Early embryonic failure associated with uniparental disomy for human chromosome 21. Hum Mol Genet 1994;3:1373–6.PubMedCrossRefGoogle Scholar
  76. 76.
    James RS, Temple IK, Dennis NR, Crolla JA. A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 1995;3:21–6.PubMedGoogle Scholar
  77. Los FJ, van Opstal D, van denBerg C, Braat APG, Verhoef S, Wesby-van Swaay E, et al. Uniparental disomy with and without confined placental mosaicism: a model for trisomie zygote rescue. Prenat Diagn 1998;18:659–68.Google Scholar
  78. 78.
    Engel E, DeLozier-Blanchet CD. Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection. Am J Med Genet 1991;40:432–9.PubMedCrossRefGoogle Scholar
  79. Yang SS, Gilbert-Barness E. Skeletal system. In: Gilbert-Barness, editor. Potter’s pathology of the fetus and infant. St. Louis: Mosby, 1997;1423–81.Google Scholar
  80. 80.
    Francomano CA, Mcintosh I, Wilkin DJ. Bone dysplasias in man: molecular insights. Curr Opin Genet Dev 1996;6:301–8.PubMedCrossRefGoogle Scholar
  81. 81.
    Jones KL. Smith’s recognisable patterns of human malformation, 5th edn. Philadelphia: WB Saunders, 1997.Google Scholar
  82. 82.
    Psiachou H, Mitton S, Alaghband-Zadeh J, Hone J, Taylor SI, Sinclair L. Leprechaunism and homozygous nonsense mutation in the insulin receptor. Lancet 1993;342:924.PubMedCrossRefGoogle Scholar
  83. 83.
    Hone J, Accili D, Al-Gazali LI, Lestringant G, Orban T, Taylor SI. Homozygosity for a new mutation (ilell9-to-met) in the insulin receptor gene in five sibs with familial insulin resistance. J Med Genet 1994;31:715–16.PubMedCrossRefGoogle Scholar
  84. 84.
    Midro AT, Debek K, Sawicka A, Marcinkiewicz D, Rogowska M. Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. Clin Genet 1993;44:53–5.PubMedCrossRefGoogle Scholar
  85. 85.
    Han VKM, Fowden AL. Paracrine regulation of fetal growth. In: Ward RHT, Smith SK, Donnai D (eds) Early fetal growth and development. London: RCOG Press, 1994;275–91.Google Scholar
  86. 86.
    Alsat E, Marcotty C, Gabriel R, Igout A, Frankenne F, Hennen G et al. Molecular approach to intrauterine growth retardation: an overview of recent data. Reprod Fértil Dev 1995;7:1457–64.PubMedCrossRefGoogle Scholar

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Authors and Affiliations

  • John Wolstenholme
  • Chris Wright

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