Birth defects incidence in children from single and twin pregnancies in the Czech Republic – current data

Česká verzia

Authors: A. Šípek ^1,2; V. Gregor ^1,3; J. Horáček ^1,4; Z. Štembera ⁵; A. Šípek jr. ⁶; J. Klaschka ^6,7; J. Skibová ⁸; P. Langhammer ⁹; L. Petržílková ⁹; J. Wiesnerová ⁹
Authors place of work: Oddělení lékařské genetiky, Fakultní Thomayerova nemocnice, Praha, ředitel MUDr. K. Filip, CSc., MBA ¹; Sanatorium PRONATAL, odborný vedoucí doc. MUDr. T. Mardešić, CSc. ²; Institut postgraduálního vzdělávání ve zdravotnictví, Praha, Katedra lékařské genetiky, ředitel MUDr. Z. Hadra ³; Gennet, Praha, vedoucí MUDr. D. Stejskal ⁴; Ústav pro péči o matku a dítě, ředitel doc. MUDr. J. Feyereisl, CSc. ⁵; 1. LF UK, děkan prof. MUDr. T. Zima, DrSc., MBA ⁶; Ústav informatiky Akademie věd České republiky, ředitel prof. RNDr. J. Wiedermann, DrSc. ⁷; Institut klinické a experimentální medicíny, ředitel doc. MUDr. J. Malý, CSc. ⁸; Ústav zdravotnických informací a statistiky České republiky, ředitelka Mgr. V. Mazánková ⁹
Published in the journal: Ceska Gynekol 2009; 74(5): 369-382

Summary

Aim of study:
An analysis of occurrence of birth defects in children from single and twin pregnancies in the Czech Republic in 1994 - 2007. An assessment of total numbers and relative incidences of birth defects in births according to Tenth Revision of International Classification of Diseases (ICD-10).

Typ of study:
Retrospective epidemiological analysis of birth defects incidences from the Czech National Birth Defects Register database.

Material and methods:
Data from the National Birth Defects Register (Institute for Health Information and Statistics) in the Czech Republic in the 1994 – 2007 period were used. In this study, particular diagnoses – as they were registered in the National Register – were analyzed. Birth defects were analyzed separetely for children from single and twin pregnancies. The diagoses in study were divided into following eleven birth defects groups according to ICD-10 classification: (Q00 - Q07) nervous system, (Q10 - Q18) eye, ear, face and neck, (Q20 - Q28) circulatory system, (Q30 - Q34) respiratory system, (Q35 - Q37) cleft lip and cleft palate, (Q38 - Q45) digestive system, (Q50 - Q56) genital organs, (Q60 - Q64) urinary system, (Q65 - Q79) musculoskeletal system, (Q80 - Q89) other defects and (Q90 -Q99) chromosomal abnormalities, not elsewhere classified. Total numbers and mean incidences of birth defects separetely for children from single and twin pregnancies were assessed for all these 11 groups

Results:
In the Czech Republic during 1994 – 2007 period, totally 1 312 930 children were born (live births and stillbirts) from single pregnancies, whereas 42 448 from twin pregnancies. A twin rate (out of a total number of births) increased from 2.33% in 1997 to 4.17% in 2004. An overall incidence of diagnosed birth defects was 436.03 per 10 000 live births in singletons and 598.38 in twins. Birth defects incidence (per 10 000 livebirths)in singletons and twins in each of 11 birth defects groups under the study was during the 1994 – 2007 period as follows: (Q00 - Q07) nervous system 9.45 in sigletons and 17.20 in twins, (Q10 - Q18) eye, ear, face and neck 21.69 in singletons, and 18.38 in twins, (Q20 - Q28) circulatory system 154.16 in singletons and 272.57 in twins, (Q30 - Q34) respiratory system 4.92 in singletons and 5.65 in twins, (Q35 - Q37) cleft lip and cleft palate 16.79 in singletons and 20.02 in twins, (Q38 - Q45) digestive system 18.97 in singletons and 28.74 in twins, (Q50 - Q56) genital organs 52.07 in singletons and 56.30 in twins, (Q60 - Q64) urinary system 34.21 in singletons and 56.78 in twins, (Q65 - Q79) musculoskeletal system 87.49 in singletons and 90.93 in twins, (Q80 - Q89) other defects 26.06 in singletons and 22.14 in twins and (Q90 - Q99) chromosomal abnormalities 10.20 in singletons and 9.66 in twins.

Conclusions:
The study gives differentiated results of incidences of selected types of birth defects in births according to pregnancy multiplicity. A statistically significant difference (p<0.001) in total birth defects incidence in twins compared to singletons was confirmed. Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00 - Q07) nervous system, Q20 - Q28) circulatory system, (Q38 - Q45) digestive system, (Q60 - Q64) urinary system, congenital hydrocephalus, some congenital heart defects, cleft lip and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, polydactyly and syndactyly. A statistically significant difference (p<0.01) was found in spina bifida, hypoplastic left heart syndrome, duodenal atresia/stenosis, diaphragmatic hernia and Down syndrome.

Key words:
birth defect, incidence, multiplicity of pregnancy, singletons, twins, International Classification of Diseases – tenth revision, Czech Republic.

Zdroje

1. Ahlbom, A., Lichtenstein, P., Malmstrom, H., et al. Cancer in twins: genetic and nongenetic familial risk factors. J Natl Cancer Inst, 1997, 19, 89, 4, , p. 287-293.

2. Behrman, RE., Kliegman, RM., Arvin, AM. (eds.) Nelson Textbook of Pediatrics. Philadelphia: W. B. Saunders, 1996.

3. Bonnelykke, B. Maternal age and parity as predictors of human twinning. Acta Genet Med Gemellol (Roma), 1990, 39, 3, p. 329-334.

4. Breslow, NE., Day, NE. Statistical Methods in Cancer Research, Vol. 2 - The design and analysis of cohort studies. Oxford U Press, NY: International Agency for Research on Cancer, 1989.

5. Campbell, D., Thompson, B., Pritchard, C., Samphier, M. Does the use of oral contraception depress DZ twinning rates ? Acta Genet Med Gemellol (Roma), 1987, 36, 3, p. 409-415.

6. Corney, G., MacGillivray, I., Campbell, DM., et al. Congenital anomalies in twins in Aberdeen and Northeast Scotland. Acta Genet Med Gemellol (Roma), 1983, 32, 1, p. 31-35.

7. Doyle, PE., Beral, V., Botting, B., Wale, CJ. Congenital malformations in twins in England and Wales. J Epidemiol Community Health, 1991, 45, 1, p. 43-48.

8. Gregor, V., Šípek, A., Horáček, J., et al. Analýza incidencí vrozených vad v České republice podle četnosti těhotenství. Čes Gynek, 2008, 73, 4, s. 199-208.

9. Gregor, V., Šípek, A., Horáček, J., et al. Prenatální diagnostika vybraných typů vrozených vad v České republice v období 1994 – 2006. Čes Gynek, 2008, 73, .3, s. 169-178.

10. Hemon, D., Berger, C., Lazar, P. Twinning following oral contraceptive discontinuation. Int J Epidemiol, 1981, 10, 4, p. 319-328.

11. Christensen, K., Fogh-Andersen, P. Cleft lip (+/- cleft palate) in Danish twins, 1970-1990. Am J Med Genet, 1993, 47, 6, p. 910-916.

12. Christensen, K., Fogh-Andersen, P. Isolated cleft palate in Danish multiple births, 1970-1990. Cleft Palate Craniofac J, 1993, 30, 5, p. 469-474.

13. Chung, CS., Myrianthopoulos, NC. Factors affecting risks of congenital malformations. I. Analysis of epidemiologic factors in congenital malformations. Report from the Collaborative Perinatal Project. Birth Defects Orig Artic Ser, 1975, 11, 10, p. 1-22.

14. Chung, CS., Myrianthopoulos, NC. Factors affecting risks of congenital malformations. II. Effect of maternal diabetes on congenital malformations. Birth Defects Orig Artic Ser, 1975, 11, 10, p. 23-38.

15. Imaizumi, Y., Inouye, E. Analysis of multiple birth rates in Japan. 1. Secular trend, maternal age effect, and geographical variation in twinning rates. Acta Genet Med Gemellol (Roma), 1979, 28, 2, p. 107-24.

16. Johnson, NL., Kotz, S. Discrete Distributions. Boston: Houghton Mifflin Company, 1969.

17. Kallen, B. Congenital malformations in twins: a population study. Acta Genet Med Gemellol (Roma), 1986, 35, 3-4, p. 167-178.

18. Keith, LG., Papiernik, E., Keith, DM. Multiple Pregnancy. New York: Parthenon, 1997

19. Macourt, DC., Stewart, P., Zaki, M. Multiple pregnancy and fetal abnormalities in association with oral contraceptive usage. Aust N Z J Obstet Gynaecol, 1982, 22, 1, p. 25-28.

20. Mastroiacovo, P., Castilla, EE., Arpino, C., et al. Congenital malformations in twins: an international study. Am J Med Genet, 1999, 83, 2, p. 117-124.

21. Medlund, P., Cederlof, R., Floderus-Myrhed, B., et al. A new Swedish twin registry containing environmental and medical base line data from about 14,000 same-sexed pairs born 1926-58. Acta Med Scand, Suppl, 1976, 600, p. 1-111.

22. Moore, KL., Persaud, TVN. The Developing Human: Clinically Oriented Embryology, 6th ed. Philadelphia: W. B. Saunders Company, 1995.

23. Moore, KL., Persaud, TVN. Zrození člověka. Praha: ISV, 2002.

24. Myrianthopoulos, NC. Congenital malformations in twins. Acta Genet Med Gemellol (Roma), 1976, 25, p. 331-335.

25. Myrianthopoulos, NC. Congenital malformations in twins: epidemiologic survey. Birth Defects Orig Artic Ser, 1975, 11, 8, p. 1-39.

26. Nazer, J., Cifuentes, L., Bazzano, M. Congenital malformations in twins. Rev Med Chil, 1999, 127, 2, p. 158-164.

27. Page, EW., Ville, CA., Ville, DB. Human Reproduction Essentials of Reproductive and Perinatal Medicine. Philadelphia: W. B. Saunders, 1991.

28. Persaud, TVN. Environmental Causes of Human Birth Defects, Springfield, IL, Charles C Thomas, 1990.

29. Ramos-Arroyo, MA. Birth defects in twins: study in a Spanish population. Acta Genet Med Gemellol (Roma), 1991, 40, 3-4, p. 337-344.

30. Shields, ED., Bixler, D., Fogh-Andersen, P. Facial clefts in Danish twins. Cleft Palate J, 1979, 16, 1, p. 1-6.

31. Šípek, A., Gregor, V., Horáček, J. Vrozené vady v České republice v období 1994-2005 – perinatologická data. Čes Gynek, 2007, 72, 2, s. 103-109.

32. Šípek, A., Gregor, V., Horáček, J. Vrozené vady v České republice v období 1961 až 2005 – průměrné incidence. Čes Gynek, 2007, 72, 3, s. 185-191.

33. Thomson, MW., McInnes, RR., Willard, HF. Thomson-Thomson, Genetics in medicine, 5th ed. Philadelphia: W. B. Saunders, 1991.

34. Tong, S. Dizygotic to monozygotic twinning ratio at The Royal Women’s Hospital, Melbourne 1947-1997, compared with Australian national twinning incidence. Twin Res, 2000, 3, 1, p. 12-16.

35. Windham, GC., Bjerkedal, T., Sever, LE. The association of twinning and neural tube defects: studies in Los Angeles, California, and Norway. Acta Genet Med Gemellol (Roma), 1982, 31, 3-4, p. 165-172.

36. Windham, GC., Bjerkedal, T. Malformations in twins and their siblings, Norway, 1967-79. Acta Genet Med Gemellol (Roma), 1984, 33, 1, p. 87-95.

37. Windham, GC., Sever, LE. Neural tube defects among twin births. Am J Hum Genet, 1982, 34, 6, p. 988-998.