1008 Long-term outcome of children born with congenital anomalies

Another good example of what can be done with careful and systematic data collection may be found in a recent article in the Lancet that focuses on history and survival of foetuses and children with congenital anomalies. Using data from the Northern Congenital Abnormality Survey, a north England register, Tennant and colleagues gathered information on 13 758 cases born between 1985 and 2003. Importantly, data included congenital anomalies in late miscarriages, terminations of pregnancy for foetal anomalies, stillbirths and livebirths, with information derived from maternity services, antenatal ultrasonography, foetal medicine departments, cytogenetic laboratories, and paediatric surgical services, as well as general death registers for those who died later. Follow-up was up to 20 years, but only 1103 cases actually fell into that category. Anomalies were categorized by ICD code and EUROCAT guidelines. Long-term survival in various categories is excellent but as expected (for example limb reduction anomalies at 97.4% cleft lip at 99.3%, isolated ventricular septal defect at 98.3%). However, very useful survival information is provided for more complex anomalies such as spina bifida with hydrocephalus (50%), isolated hydrocephalus (66.4%), diaphragmatic hernia (57.1%), and gastroschisis and omphalocoele (87.2 and 93.7%). Clearly the results focus only survival, so don’t include quality of life data. An important finding was that survival figures for livebirths were statistically related to the rate of pregnancy terminations for foetal anomaly and also to year of birth, suggesting not only that more-lethal anomalies were being aborted but also that neonatal care (e.g. surgical) had improved over the years. What possibly needs further interrogation or detail is the relatively high rate of foetal loss in situations that otherwise had good long-term survival. For example, some 20% of abdominal wall cases were lost through miscarriage, stillbirth or termination of pregnancy, but expected survival to 20 years was 92%. The question here, where the prenatal mortality rate appears to be higher than the postnatal rate, is whether natural or human intervention is effectively eliminating exactly the right cases during pregnancy or are some with a reasonable prognosis being terminated unnecessarily?

Read more:
Lancet 2010; 375: 649-56
Arch Dis Child 2003; 88: 391-94
Community Genet 2002; 5: 13-32