DO NOT USE FOR CLINICAL PRACTICE
Please use current guidelines available on the UHNM intranet for patient treatment
Please use current guidelines available on the UHNM intranet for patient treatment
INTRODUCTION
- Congenital disorder arising from a chromosome defect
- Majority due to trisomy of chromosome 21
- 4% translocations
- 1% mosaics
- Antenatal screening and subsequent termination of pregnancies results in incidence at birth of 0.8/1000
- Incidence increases with increasing age of mother from 1:1500 at aged 20 yr to 1:100 aged 40 yr
DIAGNOSIS
Antenatal
- Confirm cases identified through antenatal screening/high-risk women by amniocentesis/chorionic villi sampling
- Arrange for parents to be seen by neonatal/paediatric consultant
- Complete local paediatric alert register for postnatal care
- Give parents opportunity to visit NNU
- if visits not possible direct parents to virtual tour (if available)
Postnatal
- Approximately 30% of cases are not identified before birth – mainly due to screening declined/not undertaken
- If suspected on newborn and infant physical examination (NIPE), request immediate detailed clinical examination by paediatrician/advanced neonatal nurse practitioner
- Identify any urgent medical needs (e.g. feeding, cardiac or respiratory problems)
- Consultant paediatrician to discuss testing with parents
- Send EDTA blood sample to regional genetic laboratory for confirmation by testing QF-PCR
- referral laboratory will request lithium heparin sample for karyotyping if necessary
Parent consultation
- Parents may have conflicting emotions
- Parents to be seen by consultant:
- antenatally diagnosed: ≤24 hr of birth
- postnatally diagnosed: ≤24 hr of suspicion
- use interpreter for non-English speaking parents
- if possible/appropriate both parents to be present during consultation
- deliver explanation of baby’s features and diagnosis sensitively
- give parents time to absorb information
- Repeat visits may be necessary to deal with questions and distress
- If possible, same consultant to continue to see baby and parents until discharge
- if not possible, named/follow-up consultant must have clear handover
INITIAL MANAGEMENT
Age | Professional | Tasks |
Birth | Consultant paediatrician/ neonatologist |
|
≤5 days | Midwife |
|
2–4 weeks | Consultant paediatrician |
Follow-up appointment
|
6 weeks | Health visitor/GP |
Routine Child Health Service – primary birth visit
|
8 weeks | Health visitor/GP |
|
3–4 months |
Paediatrician/community paediatrician/child development centre |
Initial assessment
|
- Complete neonatal checklist for management of babies with Down’s syndrome (if available locally)
LATER REVIEWS
- At all stages review/discuss:
- parental concern
- developmental progress
- growth using specific Down’s syndrome chart
- hearing and visual problems
- Formal ophthalmological and audiology assessment every 2–3 yr
- more often if abnormal
- Copy clinic letters to parents and all professionals involved
Age | Review/action |
9 months |
|
12 months |
|
18 months |
|
FURTHER USEFUL INFORMATION
Down’s Syndrome Association: www.downs-syndrome.org.uk
Down's Syndrome Medical Interest Group: www.dsmig.org.uk