Hostname: page-component-76fb5796d-45l2p Total loading time: 0 Render date: 2024-04-27T12:29:19.372Z Has data issue: false hasContentIssue false
  • English
  • Français

Structural Congenital Defects in Multiple Births

Published online by Cambridge University Press:  01 August 2014

P. Mastroiacovo  and
L. Botto
P. Mastroiacovo*
Affiliation:
Birth Defects Unit, Department of Paediatrics, Catholic University, Rome
L. Botto
Affiliation:
International Center on Adverse Reproductive Outcomes - Italian Association for the Study of Malformations ICARO-ASM, Rome
*
Università Cattolica del Sacro Cuore, Clinica Pediatrica, Facoltà di Medicina e Chirurgia, Policlinico Universitario “A. Gemelli”, Largo Agostino Gemelli 8, 00168 Roma, Italia.

Extract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The prevalence of twinning and higher order multiple births is high and is increasing in many countries, due at least in part to fertility-enhancing medical therapies. About 1 in 40-45 births is a twin; it is thus important to investigate whether the twinning status confers a higher risk for morbidity and mortality, particularly early in life. Birth defects are a major cause of morbidity and mortality in the pediatric age-group. The purpose of this review is to consider the evidence for an increased risk of some birth defects associated with twinning, using data from the literature and the Italian Multicentre Birth Defects Registry (IPIMC), to illustrate some of the challenging aspects of the study of birth defects in twins, and to suggest some guidelines for future investigations.

Twins are a heterogeneous group. They may differ in origin and genetic similarity, as for monozygotic (MZ) and dizygotic (DZ) twins; and in placentation (monochorial monoamniotic, monochorial diamniotic, dichorial with separate or fused placentae). Likewise, birth defects are known to be heterogeneous in presentation, pathogenesis, and etiology. Thus, the question raised here is not whether or not birth defects ‘in general’ are more common in twins, but rather whether or not there are any specific types of defects that are more frequent among specific types of twins. To maintain the generality of the discussion, this review will focus on those structural defects which are not unique to twins; conjoined twins and arcadia, defects which are unique to the twinning process, will not be discussed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 43 , Issue 1-2 , April 1994 , pp. 57 - 70
Copyright
Copyright © The International Society for Twin Studies 1994

References

REFERENCES

1. Anderson, RC (1977): Congenital cardiac malformations in 109 sets of twins and triplets. Am J Cardiol 39:1045–1050.CrossRefGoogle ScholarPubMed
2. Balfour, RP (1976): Fetus papyraceus. Obstet Gynecol 47:507–511.Google Scholar
3. Benirschke, K (1961): Twin placenta in perinatal mortality. NY State J Med 61:1499–1509.Google Scholar
4. Berg, KA, Astemborski, JA, Boughman, JA, Ferencz, C (1989): Congenital cardiovascular malformations in twins and triplets from a population-based study. AJDC 143:1461–1463.Google ScholarPubMed
5. Bryan, EM, Kohler, HG (1974): The missing umbilical artery. I. Prospective study based on a maternity unit. Arch Dis Child 49:844–852.Google Scholar
6. Bryan, EM (1992): Twins and Higher Multiple Births: A Guide to their Nature and Nurture. Arnold, Edward, St. Edmundsburry Press, Great Britain.Google Scholar
7. Burn, J, Corney, G (1984): Congenital heart defects and twinning. Acta Genet Med Gemellol 33:61–69.Google ScholarPubMed
8. Cameron, AH, Edwards, JH, Derom, R, et al (1983): The value of twin surveys in the study of malformations. Eur J Obstet Gynecol Reprod Biol 14:347–356.Google Scholar
9. Chen, CJ, Lee, TK, Wang, CJ, Yu, MW (1992): Secular trends and associated factors of twinning in Taiwan. Acta Genet Med Gemellol 41:205–13.Google Scholar
10. Christensen, K, Fogh-Andersen, P (1993): Cleft lip ( +/−palate) in Danish twins, 1970-1990. Am J Med Genet 47:910–916.Google Scholar
11. Cohen, MM jr (1989): Perspectives on Holoprosencephaly: Part I. Epidemiology, genetics and syndromology. Teratology 40:211–235.Google Scholar
12. Connor, JM, Ferguson-Smith, MA (1991): Essential Medical Genetics, Third ed. Blackwell Scientific Publications.Google Scholar
13. Corney, G, MacGillivray, I, Campbell, DM, et al (1983): Congenital anomalies in twins in Aberdeen and North-East Scotland. Acta Genet Gemellol 32:31–35.Google Scholar
14. Derom, C, Bakker, E, Vlietinck, R, Derom, R, Van Den Berghe, H, Thiery, M, Pearson, P (1985): Zygosity determination in newborn twins using DNA variants. J Med Genet 22:279–282.Google Scholar
15. Doyle, PE, Beral, V, Botting, B, Wale, CJ (1990): Congenital malformations in twins in England and Wales. J Epidemiol Community Health 45:43–48.Google Scholar
16. Dudley, DKL, D'Alton, ME (1986): Single fetal death of one twin. AM J Obstet Gynecol 152:424–428.Google Scholar
17. Edwards, JH (1968): Multiple pregnancy. Proc R Soc Med 61:227–229.Google ScholarPubMed
18. Elwood, JM, Little, J, Elwood, JH (1992): Epidemiology and Control of Neural Tube Defects. Oxford University Press.CrossRefGoogle Scholar
19. Emery, AEH, Mueller, RF (1992): Elements of Medical Genetics, eighth ed. Churchill Livingstone.Google Scholar
20. Gaspard, O, Franchimont, P (1974): HCS, HCG and HCG subunit serum levels during multiple pregnancies. Acta Genet Med Gemellol 22:195–197.CrossRefGoogle ScholarPubMed
21. Hanna, JH, Hill, JM (1984): Single intrauterine fetal demise in multiple gestation. Obstet Gynecol 63: 26–131.Google Scholar
22. Hay, S, Wehrung, DA (1970): Congenital malformations in twins. Am J Hum Genet 22:662–678.Google ScholarPubMed
23. Heifetz, SA (1984): Single umbilical artery. A statistical analysis of 237 autopsy cases and review of the literature. Perspect Pediatr Pathol 8:345–378.Google Scholar
24. Heij, HA, Moorman-Voestermans, CGM, Vos, A (1990): Atresia of jejunum and ileaum: is it the same disease? J Ped Surg 25:635–637.Google Scholar
25. Hill, AVS, Jeffreys, AJ: Use of minisatellite DNA probes of twin zigosity at birth. Lancet ii: 1349–1395.Google Scholar
26. Hoyme, HE, Higginbottom, MC, Jones, KL (1981): Vascular etiology of disruptive structural defects in monozygotic twins. Pediatrics 67:288–291.Google Scholar
27. Italian Multicentre Birth Defects Survey (IPIMC), unpublished data.Google Scholar
28. Källén, B, Castilla, EE, Lancaster, PAL, Mutchinick, O, Knudsen, LB, Martinez-Frias, ML, Mastroiacovo, P, Robert, E (1992): The cyclops and the mermaid: an epidemiological study of two types of rare malformations. J Med Genet 29:30–35.Google Scholar
29. Källén, B, Bertollini, R, Castilla, E, Czeizel, A, Knudsen, LB, Martinez Frias, ML, Mastroiacovo, P, Mutchinichk, O (1986): A Joint international study on the epidemiology of hyposapadias. Acta Paediatr Scandin, Suppl. 324:1–52.Google Scholar
30. Källén, B (1986): Congenital malformations in twins: a population study. Acta Genet Med Gemellol 35:167–178.Google Scholar
31. Kristoffersen, K (1969): The significance of absence of one umbilical artery. Acta Obstet Gynecol Scand 48:195–214.Google Scholar
32. Lancaster, PAL, Pedisich, EL (1992): Gastrointestinal atresia in singleton and multiple births in Australia. Proceedings of the First International Meeting of the GRERS. Mastroiacovo, P, Kallen, B, Castilla, E (eds), pp. 51–56. Milan: Ghedini.Google Scholar
33. Layde, PM, Erickson, JD, Falek, A, McCarthy, BJ (1980): Congenital malformations in twins. Am J Hum Genet 32:69–78.Google ScholarPubMed
34. Leung, AKC, Robson, WLM (1989): Single umbilical artery, A report of 159 cases. Am J Dis Child 143:108–111.Google Scholar
35. Little, J, Bryan, E (1986): Congenital animalies in twins. Sem Perinatol 10: 50–64.Google Scholar
36. Little, J, Nevin, NC (1989): Congenital anomalies in twins in Northern Ireland I: Anomalies in general and specific anomalies other than neural tube defects and of the cardiovascular system, 1974-1979. Acta Genet Med Gemellol 38:1–16.Google ScholarPubMed
37. Little, J, Nevin, NC (1989): Congenital anomalies in twins in Northern Ireland III: Anomalies of the cardiovascular system, 1974-1978. Acta Genet Med Gemellol 38:27–35.Google Scholar
38. Livingston, JE, Poland, BJ (1980): A study of spontaneously aborted twins. Teratology 21:139–148.CrossRefGoogle ScholarPubMed
39. Mannino, FL, Jones, KL, Benirschke, K (1977): Congenital skin defects and fetus papyraceus. J Pediatr 91:559–563.Google Scholar
40. Mastroiacovo, P, Botto, LD, Cavalcanti, DP, Zampino, G, Serafini, MA (1992): Epidemiological and genetic study of holoprosencephaly in 106 cases observed in the Italian Multicentre Registry 1978-1989. Proceedings of the First International Meeting of the GRERS. Mastroiacovo, P, Kallen, B, Castilla, E (eds), pp. 51–56, Milan: Ghedini.Google Scholar
41. Mastroiacovo, P, Botto, LD, Cavalcanti, DP, Lalatta, F, Selicorni, A, Tozzi, AE, Baronciani, D, Cigolotti, AC, Giordano, S, Petroni, F, Puppin, F (1992): Limb anomalies following chorionic villus sampling: a registry-based case-control study. Am J Med Genet 44: 856–864.CrossRefGoogle ScholarPubMed
42. Melnick, M, Myrianthoupoulos, NC (1979): The effect of chorion type on normal and abnormal developmental variation in monozygous twins. Am J Med Genet 4:147–153.Google Scholar
43. Melnick, M, Myrianthoupoulos, NC (1979): The effects of chorion type on normal and abnormal developmental variation in monozygous twins. Am J Med Genet 4:147–156.Google Scholar
44. Melnick, M (1977): Brain damage in survivors after in-utero death of monozygous cotwin. Lancet ii: 1287–1289.CrossRefGoogle Scholar
45. Myrianthoupoulos, NC (1975): Congenital malformations in twins: an epidemiologic survey. Birth Defects 11:1–39.Google Scholar
46. Nicolini, U, Monni, G (1990): Intestinal obstruction in babies exposed in utero to methylene blue. Lancet 326:1258–1259.Google Scholar
47. Opitz, JM (1982): The developmental field concept in clinical genetics. J Pediatrics 101:805–809.Google Scholar
48. Pradat, P (1992): Epidemiology of major congenital hearth defects in Sweden, 1981-1986. J Epidemiol Comm Health 46:211–215.Google Scholar
49. Propping, P, Vogel, F (1976): Twin studies in medical genetics. Acta Genet Med Gemellol 25:249–258.CrossRefGoogle ScholarPubMed
50. Ramos Arroyo, MA (1991): Birth defects in twins: study of a Spanish population. Acta Genet Med Gemellol 40:337–344.Google Scholar
51. Saier, F, Burden, L, Cavanagh, D (1975): Fetus papyraceus: an unusal case with congenital anomaly of the surviving fetus. Obstet Gynecol 45:217–222.Google Scholar
52. Schinzel, AAGL, Smith, DW, Miller, JR (1979): Monozygotic twinning and structural defects. J Pediatrics 95:921–930.Google Scholar
53. Seki, M, Strauss, L (1964): Absence of one umbilical artery. Analysis of 60 cases with emphasis on associated developmental aberrations. Arch Pathol 78:446–453.Google Scholar
54. Shields, ED, Bixler, D, Fogh-Andersen, P (1979): Facial clefts in Danish twins. Cleft Palate J 16:1–6.Google Scholar
55. Stockard, CR (1921): Developmental rate and structural expression: an experimental study of twins, ‘double monsters’ and single deformities and the interaction among embryonic organs during their origin and development. Am J Anat 28:115–124.Google Scholar
56. Uchida, IA, Rowe, RD (1957): Discordant heart anomalies in twins. Am J Hum Genet 9:133–140.Google ScholarPubMed
57. Vogel, F, Motulsky, AG (1979): Human Genetics, Problems and Approaches. New York: Springer Verlag.Google Scholar
58. Windham, GC, Bjerkedal, T (1984): Malformations in twins and their siblings, Norway, 1967-79. Acta Genet Med Gemellol 33:87–95.Google ScholarPubMed