Skip to main content
Top
Published in: BMC Medicine 1/2017

Open Access 01-12-2017 | Research article

Risk estimates of recurrent congenital anomalies in the UK: a population-based register study

Authors: Svetlana V. Glinianaia, Peter W. G. Tennant, Judith Rankin

Published in: BMC Medicine | Issue 1/2017

Login to get access

Abstract

Background

Recurrence risks for familial congenital anomalies in successive pregnancies are known, but this information for major structural anomalies is lacking. We estimated the absolute and relative risks of recurrent congenital anomaly in the second pregnancy for women with a history of a congenital anomaly in the first pregnancy, for all major anomaly groups and subtypes.

Methods

Population-based register data on 18,605 singleton pregnancies affected by major congenital anomaly occurring in 872,493 singleton stillbirths, live births and terminations of pregnancy for fetal anomaly were obtained from the Northern Congenital Abnormality Survey, North of England, UK, for 1985–2010. Absolute risks (ARs) and relative risks (RRs) for recurrent congenital anomaly (overall, from a similar group, from a dissimilar group) in the second pregnancy were estimated by history of congenital anomaly (overall, by group, by subtype) in the first pregnancy.

Results

The estimated prevalences of congenital anomaly in first and second pregnancies were 275 (95% CI 270–281) and 163 (95% CI 159–168) per 10,000 respectively. For women whose first pregnancy was affected by congenital anomaly, the AR of recurrent congenital anomaly in the second pregnancy was 408 (95% CI 365–456) per 10,000, 2.5 (95% CI 2.3–2.8, P < 0.0001) times higher than for those with unaffected first pregnancies. For similar anomalies, the recurrence risk was considerably elevated (RR = 23.8, 95% CI 19.6–27.9, P < 0.0001), while for dissimilar anomalies the increase was more modest (RR = 1.4, 95% CI 1.2–1.6, P = 0.001), although the ARs for both were 2%.

Conclusions

Absolute recurrence risks varied between 1 in 20 and 1 in 30 for most major anomaly groups. At pre-conception and antenatal counselling, women whose first pregnancy was affected by a congenital anomaly and who are planning a further pregnancy may find it reassuring that, despite high relative risks, the absolute recurrence risk is relatively low.
Literature
2.
go back to reference Centers for Disease Control and Prevention (CDC). Update on overall prevalence of major birth defects - Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008;57:1–5. Centers for Disease Control and Prevention (CDC). Update on overall prevalence of major birth defects - Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008;57:1–5.
3.
go back to reference Christianson A, Howson CP, Modell B. March of Dimes global report on birth defects: the hidden toll of dying and disabled children. White Plains: March of Dimes Birth Defects Foundation; 2006. Christianson A, Howson CP, Modell B. March of Dimes global report on birth defects: the hidden toll of dying and disabled children. White Plains: March of Dimes Birth Defects Foundation; 2006.
4.
go back to reference Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349–64.CrossRefPubMed Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349–64.CrossRefPubMed
5.
go back to reference Murphy SL, Xu J, Kochanek KD. Deaths: final data for 2010. Natl Vital Stat Rep. 2013;61:1–117.PubMed Murphy SL, Xu J, Kochanek KD. Deaths: final data for 2010. Natl Vital Stat Rep. 2013;61:1–117.PubMed
9.
go back to reference Boyd PA, Devigan C, Khoshnood B, Loane M, Garne E, Dolk H, Group EW. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down’s syndrome. BJOG. 2008;115:689–96.CrossRefPubMedPubMedCentral Boyd PA, Devigan C, Khoshnood B, Loane M, Garne E, Dolk H, Group EW. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down’s syndrome. BJOG. 2008;115:689–96.CrossRefPubMedPubMedCentral
10.
go back to reference Asplin N, Wessel H, Marions L, Georgsson OS. Pregnancy termination due to fetal anomaly: women’s reactions, satisfaction and experiences of care. Midwifery. 2014;30:620–7.CrossRefPubMed Asplin N, Wessel H, Marions L, Georgsson OS. Pregnancy termination due to fetal anomaly: women’s reactions, satisfaction and experiences of care. Midwifery. 2014;30:620–7.CrossRefPubMed
11.
go back to reference Aalfs CM, Mollema ED, Oort FJ, de Haes JC, Leschot NJ, Smets EM. Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics. Clin Genet. 2004;66:112–21.CrossRefPubMed Aalfs CM, Mollema ED, Oort FJ, de Haes JC, Leschot NJ, Smets EM. Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics. Clin Genet. 2004;66:112–21.CrossRefPubMed
12.
go back to reference Wille MC, Weitz B, Kerper P, Frazier S. Advances in preconception genetic counseling. J Perinat Neonatal Nurs. 2004;18:28–40.CrossRefPubMed Wille MC, Weitz B, Kerper P, Frazier S. Advances in preconception genetic counseling. J Perinat Neonatal Nurs. 2004;18:28–40.CrossRefPubMed
13.
go back to reference Harper PS. Practical genetic counselling. 7th ed. Boca Raton: Taylor & Francis Group, CRC Press; 2011. Harper PS. Practical genetic counselling. 7th ed. Boca Raton: Taylor & Francis Group, CRC Press; 2011.
15.
go back to reference Basso O, Olsen J, Christensen K. Recurrence risk of congenital anomalies—the impact of paternal, social, and environmental factors: a population-based study in Denmark. Am J Epidemiol. 1999;150:598–604.CrossRefPubMed Basso O, Olsen J, Christensen K. Recurrence risk of congenital anomalies—the impact of paternal, social, and environmental factors: a population-based study in Denmark. Am J Epidemiol. 1999;150:598–604.CrossRefPubMed
16.
go back to reference Lie RT, Wilcox AJ, Skjaerven R. A population-based study of the risk of recurrence of birth defects. N Engl J Med. 1994;331:1–4.CrossRefPubMed Lie RT, Wilcox AJ, Skjaerven R. A population-based study of the risk of recurrence of birth defects. N Engl J Med. 1994;331:1–4.CrossRefPubMed
17.
go back to reference Mueller BA, Schwartz SM. Risk of recurrence of birth defects in Washington State. Paediatr Perinat Epidemiol. 1997;11:107–18.CrossRefPubMed Mueller BA, Schwartz SM. Risk of recurrence of birth defects in Washington State. Paediatr Perinat Epidemiol. 1997;11:107–18.CrossRefPubMed
20.
go back to reference European Surveillance of Congenital Anomalies. Chapter 3.2: Minor anomalies for exclusion. In: EUROCAT Guide 14 and reference documents. Newtownabbey: EUROCAT Central Registry; 2013. European Surveillance of Congenital Anomalies. Chapter 3.2: Minor anomalies for exclusion. In: EUROCAT Guide 14 and reference documents. Newtownabbey: EUROCAT Central Registry; 2013.
21.
go back to reference Li SJ, Ford N, Meister K, Bodurtha J. Increased risk of birth defects among children from multiple births. Birth Defects Res A Clin Mol Teratol. 2003;67:879–85.CrossRefPubMed Li SJ, Ford N, Meister K, Bodurtha J. Increased risk of birth defects among children from multiple births. Birth Defects Res A Clin Mol Teratol. 2003;67:879–85.CrossRefPubMed
22.
go back to reference Glinianaia SV, Rankin J, Wright C. Congenital anomalies in twins: a register-based study. Hum Reprod. 2008;23:1306–11.CrossRefPubMed Glinianaia SV, Rankin J, Wright C. Congenital anomalies in twins: a register-based study. Hum Reprod. 2008;23:1306–11.CrossRefPubMed
23.
go back to reference World Health Organization. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99). In: International statistical classification of diseases and related health problems: 10th revision. Geneva: World Health Organization; 2010. World Health Organization. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99). In: International statistical classification of diseases and related health problems: 10th revision. Geneva: World Health Organization; 2010.
25.
go back to reference European Surveillance of Congenital Anomalies. Chapter 3.3: EUROCAT subgroups of congenital anomalies (version 2014). In: EUROCAT Guide 14 and reference documents. Newtownabbey: EUROCAT Central Registry; 2013. European Surveillance of Congenital Anomalies. Chapter 3.3: EUROCAT subgroups of congenital anomalies (version 2014). In: EUROCAT Guide 14 and reference documents. Newtownabbey: EUROCAT Central Registry; 2013.
26.
go back to reference Tennant PW, Pearce MS, Bythell M, Rankin J. 20-year survival of children born with congenital anomalies: a population-based study. Lancet. 2010;375:649–56.CrossRefPubMed Tennant PW, Pearce MS, Bythell M, Rankin J. 20-year survival of children born with congenital anomalies: a population-based study. Lancet. 2010;375:649–56.CrossRefPubMed
27.
go back to reference Smallwood S. New estimates of trends in births by birth order in England and Wales. Popul Trends. 2002;Summer:32–48. Smallwood S. New estimates of trends in births by birth order in England and Wales. Popul Trends. 2002;Summer:32–48.
28.
go back to reference Sukasih A, Jang D. An application of confidence interval methods for small proportions in the Health Care Survey of DoD Beneficiaries. In: Proceedings of the Survey Research Methods Section, American Statistical Association 2005. Princeton: Mathematica Policy Research; 2005. p. 3608–12. Sukasih A, Jang D. An application of confidence interval methods for small proportions in the Health Care Survey of DoD Beneficiaries. In: Proceedings of the Survey Research Methods Section, American Statistical Association 2005. Princeton: Mathematica Policy Research; 2005. p. 3608–12.
30.
go back to reference Rendall M, Smallwood S. Higher qualifications, first birth timing, and further childbearing in England and Wales. Popul Trends. 2003;111:18–26. Rendall M, Smallwood S. Higher qualifications, first birth timing, and further childbearing in England and Wales. Popul Trends. 2003;111:18–26.
31.
go back to reference Korenromp MJ, Page-Christiaens GC, van den Bout J, Mulder EJ, Hunfeld JA, Potters CM, Erwich JJ, van Binsbergen CJ, Brons JT, Beekhuis JR, et al. A prospective study on parental coping 4 months after termination of pregnancy for fetal anomalies. Prenat Diagn. 2007;27:709–16.CrossRefPubMed Korenromp MJ, Page-Christiaens GC, van den Bout J, Mulder EJ, Hunfeld JA, Potters CM, Erwich JJ, van Binsbergen CJ, Brons JT, Beekhuis JR, et al. A prospective study on parental coping 4 months after termination of pregnancy for fetal anomalies. Prenat Diagn. 2007;27:709–16.CrossRefPubMed
32.
go back to reference Duong HT, Hoyt AT, Carmichael SL, Gilboa SM, Canfield MA, Case A, McNeese ML, Waller DK. National Birth Defects Prevention Study. Is maternal parity an independent risk factor for birth defects? Birth Defects Res A Clin Mol Teratol. 2012;94:230–6.CrossRefPubMedPubMedCentral Duong HT, Hoyt AT, Carmichael SL, Gilboa SM, Canfield MA, Case A, McNeese ML, Waller DK. National Birth Defects Prevention Study. Is maternal parity an independent risk factor for birth defects? Birth Defects Res A Clin Mol Teratol. 2012;94:230–6.CrossRefPubMedPubMedCentral
33.
go back to reference Skjaerven R, Wilcox AJ, Lie RT, Irgens LM. Selective fertility and the distortion of perinatal mortality. Am J Epidemiol. 1988;128:1352–63.PubMed Skjaerven R, Wilcox AJ, Lie RT, Irgens LM. Selective fertility and the distortion of perinatal mortality. Am J Epidemiol. 1988;128:1352–63.PubMed
34.
go back to reference Knox EG, Lancashire RJ. Familial concordances in twins and sibs. In: Epidemiology of congenital malformations. London: HMSO; 1991. p. 75–84. Knox EG, Lancashire RJ. Familial concordances in twins and sibs. In: Epidemiology of congenital malformations. London: HMSO; 1991. p. 75–84.
35.
36.
go back to reference Webber DM, MacLeod SL, Bamshad MJ, Shaw GM, Finnell RH, Shete SS, Witte JS, Erickson SW, Murphy LD, Hobbs C. Developments in our understanding of the genetic basis of birth defects. Birth Defects Res A Clin Mol Teratol. 2015;103:680–91.CrossRefPubMedPubMedCentral Webber DM, MacLeod SL, Bamshad MJ, Shaw GM, Finnell RH, Shete SS, Witte JS, Erickson SW, Murphy LD, Hobbs C. Developments in our understanding of the genetic basis of birth defects. Birth Defects Res A Clin Mol Teratol. 2015;103:680–91.CrossRefPubMedPubMedCentral
37.
go back to reference Glinianaia SV, Tennant PW, Crowder D, Nayar R, Bell R. Fifteen-year trends and predictors of preparation for pregnancy in women with pre-conception Type 1 and Type 2 diabetes: a population-based cohort study. Diabet Med. 2014;31:1104–13.CrossRefPubMed Glinianaia SV, Tennant PW, Crowder D, Nayar R, Bell R. Fifteen-year trends and predictors of preparation for pregnancy in women with pre-conception Type 1 and Type 2 diabetes: a population-based cohort study. Diabet Med. 2014;31:1104–13.CrossRefPubMed
Metadata
Title
Risk estimates of recurrent congenital anomalies in the UK: a population-based register study
Authors
Svetlana V. Glinianaia
Peter W. G. Tennant
Judith Rankin
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Medicine / Issue 1/2017
Electronic ISSN: 1741-7015
DOI
https://doi.org/10.1186/s12916-017-0789-5

Other articles of this Issue 1/2017

BMC Medicine 1/2017 Go to the issue