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Natural history of trisomy 18
N D Embleton1, J P Wyllie, M J Wright
1Department of Paediatric Cardiology, Freeman Hospital NHS Trust, Newcastle upon Tyne.
Insights
Survival for babies with trisomy 18 is poor, with a median of only 3 days. Cardiac surgery is unlikely to improve outcomes for these infants, as cardiac issues rarely cause death.
Area of Science:
- Medical research
- Genetics
- Pediatrics
Background:
- Trisomy 18 (Edwards syndrome) is a severe genetic disorder.
- Previous suggestions indicated potential benefits of cardiac surgery for trisomy 18.
- Accurate survival data and treatment efficacy are crucial.
Purpose of the Study:
- To evaluate the survival rates of infants with trisomy 18.
- To assess the potential justification for cardiac surgery in trisomy 18 cases.
- To identify the primary causes of mortality in liveborn infants with trisomy 18.
Main Methods:
- A population-based study was conducted over seven years in an English health region.
- Data on fetal and birth prevalence, antenatal detection, delivery modes, and survival were collected.
- Autopsy and clinical data were reviewed to determine causes of death and presence of cardiac malformations.
Main Results:
- Fetal prevalence of trisomy 18 was 1 in 4274, and birth prevalence was 1 in 8333 live births.
- Antenatal detection occurred in 43% of cases; 90% of undiagnosed infants had intrauterine growth retardation.
- Median survival for liveborn infants was 3 days, with no infants surviving past one year; central apnoea was the most common cause of death.
Conclusions:
- Cardiac surgery is not currently justified for infants with trisomy 18 due to limited survival benefits.
- Cardiac malformations are common but not the primary cause of death in most cases.
- Central apnoea is the predominant cause of mortality in liveborn infants with trisomy 18.
Abstract:
It has been suggested that survival in babies with trisomy 18 may be better than previously recognised, and that cardiac surgery may be justified. A population based study spanning seven years in one English health region is presented. The fetal prevalence at 18 weeks was 1 in 4274 and birth prevalence 1 in 8333 live births. Trisomy 18 was detected antenatally in 43% of cases, but almost 90% of those born without a diagnosis were known to be growth retarded in utero. More than 50% of liveborn infants were delivered by caesarean section. The median survival of those born alive was 3 days with no babies living longer than one year. Cardiac malformations were not universal but were present in more than 87% of those for whom there were data. However, in only three cases were cardiac problems implicated in the death of the infants. Cardiac surgery is not likely to improve the survival of infants with trisomy 18 and at present cannot be justified. The most common mode of death was central apnoea.