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G35 A Review of the Outcome of a Cohort of Infants Born with Trisomy 18
  1. S Jalloh1,
  2. K Baker2,
  3. S Damodaran4,
  4. R Roy4,
  5. W Kelsall3
  1. 1Paediatrics, Basildon Hospital, Basildon, UK
  2. 2Genetics, Addenbrookes Hospital, Cambridge, UK
  3. 3Neonatal, Addenbrookes Hospital, Cambridge, UK
  4. 4Paediatrics, Norfolk and Norwich Hospital, Norwich, UK.

Abstract

Trisomy 18 (T18), Edward’s syndrome, is a rare condition with a prevalence of 0.1/1000 livebirths in the UK.1 The majority of these infants do not survive the neonatal period with up to 10% surviving for a year 2. Clinicians are faced with difficult discussions regarding outcome. This study stems from questions posed by parents of a baby girl who died at home aged 22 months.

The study was designed to address the parents’ questions:

1.What is the likelihood of a baby being born with T18 with no identified antenatal risk factors?

2.What is the prognosis for a baby born with T18?

3.What support should families receive following a diagnosis of T18?

Method Retrospective study of all karyotype confirmed postnatal diagnoses of T18, born between 2000 and 2010 at hospitals within a perinatal network. Patients were identified from genetic databases. Information was extracted from paediatric case-notes to a pre-designed audit sheet.

Results Over 11years, 19 live born cases were identified. Information is available for 18. Nine cases (50%) were suspected antenatally but karyotyping declined until after birth. Nine cases (50%) were not suspected before birth. The median gestation was 38 weeks with range of associated anomalies; cardiac defects being the commonest. 4 babies died before discharge and all babies discharged from hospital had a named paediatric consultant. Survival was 94% at one week, 72% at one month, 39% at 3 months, 22% at 6 months and 11% at one year of age. Community nursing and hospice support was provided for 12 (66%) babies. Clinical genetics input was documented for 16 families; 6 before and 10 after discharge. Evidence of end-of-life -planning was poorly documented in the case notes.

Conclusions Half of the babies in this cohort were not suspected antenatally. Overall survival rate was 10% at one year consistent with previous studies but medium term survival was higher than other published studies. Better documentation of end of life care is required.

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