Elsevier

The Lancet

Volume 375, Issue 9715, 20–26 February 2010, Pages 649-656
The Lancet

Articles
20-year survival of children born with congenital anomalies: a population-based study

https://doi.org/10.1016/S0140-6736(09)61922-XGet rights and content

Summary

Background

Congenital anomalies are a leading cause of perinatal and infant mortality. Advances in care have improved the prognosis for some congenital anomaly groups and subtypes, but there remains a paucity of knowledge about survival for many others, especially beyond the first year of life. We estimated survival up to 20 years of age for a range of congenital anomaly groups and subtypes.

Methods

Information about children with at least one congenital anomaly, delivered between 1985 and 2003, was obtained from the UK Northern Congenital Abnormality Survey (NorCAS). Anomalies were categorised by group (the system affected), subtype (the individual disorder), and syndrome according to European Surveillance of Congenital Anomalies (EUROCAT) guidelines. Local hospital and national mortality records were used to identify the survival status of liveborn children. Survival up to 20 years of age was estimated by use of Kaplan-Meier methods. Cox proportional hazards regression was used to examine factors that affected survival.

Findings

13 758 cases of congenital anomaly were notified to NorCAS between 1985 and 2003. Survival status was available for 10 850 (99·0%) of 10 964 livebirths. 20-year survival was 85·5% (95% CI 84·8–86·3) in individuals born with at least one congenital anomaly, 89·5% (88·4–90·6) for cardiovascular system anomalies, 79·1% (76·7–81·3) for chromosomal anomalies, 93·2% (91·6–94·5) for urinary system anomalies, 83·2% (79·8–86·0) for digestive system anomalies, 97·6% (95·9–98·6) for orofacial clefts, and 66·2% (61·5–70·5) for nervous system anomalies. Survival varied between subtypes within the same congenital anomaly group. The proportion of terminations for fetal anomaly increased throughout the study period (from 12·4%, 9·8–15·5, in 1985 to 18·3%, 15·6–21·2, in 2003; p<0·0001) and, together with year of birth, was an independent predictor of survival (adjusted hazard ratio [HR] for proportion of terminations 0·95, 95% CI 0·91–0·99, p=0·023; adjusted HR for year of birth 0·94, 0·92–0·96, p<0·0001).

Interpretation

Estimates of survival for congenital anomaly groups and subtypes will be valuable for families and health professionals when a congenital anomaly is detected, and will assist in planning for the future care needs of affected individuals.

Funding

BDF Newlife.

Introduction

Congenital anomalies are a leading cause of perinatal and infant mortality, especially in developed countries.1, 2 Advances in fetal and neonatal care have improved outcomes for individuals with some congenital anomalies.3, 4, 5 However, there remains a paucity of knowledge about survival for various specific groups and subtypes.

Most studies have reported survival in individuals with either Down's syndrome6, 7, 8, 9, 10, 11, 12 or spina bifida.8, 9, 13, 14, 15, 16 For other congenital anomaly groups and subtypes, there are few, or no, data for survival, particularly beyond the first year of life. Dastgiri7 and Agha13 and their colleagues tried to address this shortage by reporting survival over several years for various congenital anomaly groups. However, many of the reported groups included a range of disorders that are likely to vary widely in their lethality. Furthermore, mortality estimates can be substantially overestimated if subtypes are not reported in isolation.17, 18

We used data from the Northern Congenital Abnormality Survey (NorCAS), a population-based register of congenital anomalies within northern England, matched with local hospital and national mortality records, to estimate survival up to 20 years of age for a range of congenital anomaly groups and subtypes.

Section snippets

Study population

The former Northern Health Region of England (UK) is a geographically distinct area with a stable population of 3 million people and approximately 35 000 deliveries per year. NorCAS gathers data for congenital anomalies occurring within this population, whether arising in late miscarriages (fetal deaths at ≥20 weeks of gestation), terminations of pregnancy for fetal anomaly after prenatal diagnosis, stillbirths (fetal deaths delivered at ≥24 weeks of gestation, or ≥28 weeks before October,

Results

13 758 cases of congenital anomaly were notified to NorCAS between 1985 and 2003, equivalent to a prevalence of 20·8 per 1000 registered births (95% CI 20·4–21·1). Table 1 shows clinical outcomes for congenital anomaly groups. Outcomes for subtypes are shown in webappendix pp 1–2. There were 124 (0·9%) late miscarriages, 2249 (16·3%) terminations of pregnancy for fetal anomaly after prenatal diagnosis, 421 (3·1%) stillbirths, and 10 964 (79·7%) livebirths. The proportion of terminations

Discussion

This study estimated survival for several congenital anomaly groups and subtypes, including many for which there are limited published data, particularly beyond 1 year of age. 20-year survival rates ranged from 66·2% in individuals born with nervous system anomalies to 97·6% in those born with orofacial clefts. Survival varied substantially by congenital anomaly subtype. The proportion of terminations of pregnancy for fetal anomaly increased throughout the study period (from 12·4% in 1985 to

References (41)

  • LC Gilstrap et al.

    Intrapartum treatment of acute chorioamnionitis: impact on neonatal sepsis

    Am J Obstet Gynecol

    (1988)
  • A Rosano et al.

    Infant mortality and congenital anomalies from 1950 to 1994: an international perspective

    J Epidemiol Community Health

    (2000)
  • H Kalter

    Five-decade international trends in the relation of perinatal mortality and congenital malformations: stillbirth and neonatal death compared

    Int J Epidemiol

    (1991)
  • RS Boneva et al.

    Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979–1997

    Circulation

    (2001)
  • EJ Glasson et al.

    The changing survival profile of people with Down's syndrome: implications for genetic counselling

    Clin Genet

    (2002)
  • NP Smith et al.

    Recent advances in congenital diaphragmatic hernia

    Arch Dis Child

    (2005)
  • PA Baird et al.

    Life tables for Down syndrome

    Hum Genet

    (1989)
  • S Dastgiri et al.

    Survival of children born with congenital anomalies

    Arch Dis Child

    (2003)
  • MB Forrester et al.

    First-year mortality rates for selected birth defects, Hawaii, 1986–1999

    Am J Med Genet

    (2003)
  • WN Nembhard et al.

    Patterns of first-year survival among infants with selected congenital anomalies in Texas, 1995–1997

    Teratology

    (2001)
  • SA Rasmussen et al.

    Survival in infants with Down syndrome, Metropolitan Atlanta, 1979–1998

    J Pediatr

    (2006)
  • C Hayes et al.

    Ten-year survival of Down syndrome births

    Int J Epidemiol

    (1997)
  • S Leonard et al.

    Survival of infants born with Down's syndrome: 1980–96

    Paediatr Perinat Epidemiol

    (2000)
  • MM Agha et al.

    Determinants of survival in children with congenital abnormalities: a long-term population-based cohort study

    Birth Defects Res A Clin Mol Teratol

    (2006)
  • R Althouse et al.

    Survival and handicap of infants with spina bifida

    Arch Dis Child

    (1980)
  • SJ Bamforth et al.

    Spina bifida and hydrocephalus: a population study over a 35-year period

    Am J Hum Genet

    (1989)
  • LY Wong et al.

    Survival of infants with spina bifida: a population study, 1979–94

    Paediatr Perinat Epidemiol

    (2001)
  • CM Druschel et al.

    First year-of-life mortality among infants with oral clefts: New York State, 1983–1990

    Cleft Palate Craniofac J

    (1996)
  • H Leonard et al.

    The influence of congenital heart disease on survival of infants with oesophageal atresia

    Arch Dis Child Fetal Neonatal Ed

    (2001)
  • S Richmond et al.

    A population-based study of the prenatal diagnosis of congenital malformation over 16 years

    BJOG

    (2005)
  • Cited by (332)

    View all citing articles on Scopus
    View full text