Down Syndrome Neonatal Guideline

Publication: 07/02/2013  --
Last review: 02/02/2017  
Next review: 02/02/2020  
Clinical Guideline
CURRENT 
ID: 3244 
Approved By: Trust Clinical Guidelines Group 
Copyright© Leeds Teaching Hospitals NHS Trust 2017  

 

This Clinical Guideline is intended for use by healthcare professionals within Leeds unless otherwise stated.
For healthcare professionals in other trusts, please ensure that you consult relevant local and national guidance.

Down Syndrome Neonatal Guideline

Background

Down syndrome has an incidence of 1:700 to 1:1000 live births.  Down syndrome causes learning disability and is associated with an increased risk of congenital malformations and medical complications affecting many systems.  A number of these will be present at birth and this guideline sets out areas which require special attention and further investigation in the newborn period.  More comprehensive information about the medical complications associated with Down Syndrome can be found from a number of other sources, the Down Syndrome medical Interest Group website is especially useful (www.dsmig.org.uk).

Good communication with the family after the birth of a baby with Down syndrome is vitally important.  It is essential that it is done in a supportive, positive and honest manner, at an appropriate pace.  It is important that the family are able to understand the information given and that time is provided for them to ask questions. To help with this initial conversation further information and resource links are provided for clinicians and families here and in the appendices.

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Diagnosis

All babies for whom a diagnosis of Down syndrome has been queried must be reviewed by a consultant before discharge.

Communication*:

  • Parents should be informed as soon as possible after the diagnosis is suspected, by an experienced paediatrician who has sufficient knowledge of Down syndrome to answer immediate questions and is able to explain the need for further confirmatory testing.
  • The timing of this conversation needs to be balanced with mum’s health, having both parents present (if not, mum should be supported by a partner or extended family), an appropriate environment and adequate time available for the consultation.  The same is true when sharing results.

Chromosome analysis*

  • Antenatal diagnosis on CVS and amniocentesis does not require post-natal confirmatory karyotype unless the clinical features do not appear consistent with Down syndrome, or if only a QF-PCR result was available antenatally, or at parental request. 
  • If not diagnosed antenatally, after the above discussion:
    Send 1 ml of baby’s blood in a lithium-heparin sample bottle to cytogenetics laboratory in St James Hospital. Request a Down syndrome screen.

    Call cytogenetics to advise sample coming (ext: 65419) and please give a contact name and number for results to be called through to (e.g. Neonatal registrar on call and bleep number)

    The time and day at which the lab receive the sample will determine which rapid test is performed (QF-PCR or Fluorescent In Situ Hybridisation, FISH) and the timescale within which results will be available, see the table below.  Both these rapid tests determine if there are three copies of chromosome 21.

    The final karyotype is available within 10 working days.  This provides information about the actual structure of the chromosomes.

    If at St James request a porter to deliver directly to cytogenetics, since it is not located in main pathology Lab.

    If at LGI, contact Main pathology lab (ext: 22585) for the time of the next transport, it may be necessary to send sample in a taxi.

Sample received by lab

Rapid test

Timescale for result

note

Monday to Thursday before 3pm

QF-PCR

24hours

 

Monday to Thursday after 3pm

Friday before 3pm

FISH

48hours

 

Friday after 3pm

FISH

72hours

Attempt at overnight cell culture for result on Saturday morning, but not always possible

Saturday before 11am

FISH

48hours

 

Saturday after 11am, all Sunday

No service

 

Send blood early Monday morning.

Please give a contact name, number and if applicable bleep number  for results to be called through to (e.g. Neonatal registrar on call)

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Investigation/Treatment/management

When a positive result is received:

  • The results should be shared with the family as soon as possible by an experience paediatrician who has sufficient knowledge of Down syndrome to answer questions. (Don’t forget further information from the full karyotype will follow)*.  Consider arrangements for mum’s partner to be resident over night on the day of diagnosis.
  • Offer the family a Down syndrome Pack (see appendix 1).
  • Refer to Community Paediatrician as soon as the diagnosis is confirmed (it is not mandatory that the baby and family are seen prior to discharge, however some Consultants do wish to review as early as possible on the wards).  Refer to appropriate community Paediatrician dependant on baby’s GP postcode (see appendix 3 for area postcodes):

    East Leeds Dr Ruchi Gulati
    CDC St James's Hospital
    (0113) 206 4123/206 4591
    East and North East Leeds Dr Anne Kelly
    CDC St James Hospital
    (0113) 206 4123 / 206 4591
    West Leeds  Dr Arnab Seal
    Wortley Beck Health Centre
    (0113) 843 8021
    North West Leeds Dr Sheila Puri
    Wortley Beck Health Centre
    (0113) 843 8021
    South Leeds Dr Gill Robinson
    St Georges Centre
    (0113) 292 9832

For Families outside of Leeds refer to local community paediatrician.

  • Inform midwife, community midwife, GP and HV.
  • Parents should be offered the opportunity to see a clinical geneticist and a referral made if appropriate.

Specific medical assessment and screening:

-All babies with Down syndrome should have routine neonatal examination.

  • Heart14-16:
    Careful clinical examination.  40-60% of babies with Down syndrome have congenital heart anomalies.

    In-patient Cardiology referral is required only if there are abnormal clinical signs or significant other malformation*.  Discuss with the paediatric cardiology team on-call.

    Otherwise, a formal cardiology assessment should be undertaken within 6 weeks of birth, this can be as an outpatients if the baby has been discharged*.

    (ECG is not currently recommended routinely. ECG is often normal, and therefore may be misleading, even in the presence of congenital anomaly in babies with Down Syndrome.  Left axis deviation may be seen in AVSD5.)

  • Thyroid17-18:
    Standard Guthrie heel prick screening on day 5 is appropriate*.  

    Nominated Paediatric endocrinologist (currently Dr T Mustaq and team) are automatically notified if abnormal. If abnormal, blood should be sent for full thyroid function and thyroxine commenced, discuss with paediatric endocrinology.

  • Hearing3-7:
    Routine universal newborn hearing screening*.

    If inadequate response, refer to audiology department.

  • Vision:a
    Routine neonatal examination.

    Babies with Down syndrome have increased risk of congenital cataract, infantile glaucoma and nystagmus8-10.  Babies with any abnormalities should be referred immediately to an ophthalmologist.

  • Growth and feeding:
    Breast feeding should be encouraged and supported.

    Feeding can take longer to establish and it can take babies with Down syndrome longer to regain their birth weight11,24

    Occasionally, feeding difficulties will necessitate referral to speech and language therapist for assessment.

    Babies should be plotted on the RCPCH Down Syndrome Growth Chart (2011)*.  Currently there are no charts for prematurity, therefore standard charts should be used if baby is born prematurely, until term.

    PHCR Down Syndrome (2011) Growth chart insert should be used in the red book (boy and girl insert are in the ‘Down syndrome pack’).

  • Gastrointestinal Tract
    Routine neonatal examination.

    Babies with Down syndrome have increased incidence of congenital anomaly of the GI tract25.  Special attention in history and examination for vomiting, passing of meconium within 24hours, abdominal distension, patency and position of anus.

  • Haematology:
    Neonates should have a full blood count and blood film* soon after birth or diagnosis.

    Babies with Down’s syndrome have a relatively higher haemoglobin and lower platelet count as compared to the general population12. If concerned discuss with paediatric haematology team on call.

    About 5% have Transient Myeloproliferative Disorder12, suggested by leukocytosis and significant peripheral blast cells.  Discuss with Dr Beki James (consultant paediatric haematologist), if unavailable, or urgent, discuss with paediatrics haematology team on call.

  • Immunisation:
    Babies should follow normal immunisation schedule.
    RSV prophylaxis is only required if indicated by other criteria (prematurity and CLD, significant acyanotic heart disease, immunodeficiency)

  • Renal:
    There is a small increased risk of renal anomalies6.  At present clinical assessment only is advised, provided a detailed antenatal anomaly scan* has been performed.

Ongoing follow-up and care: 

Follow up with the appropriate Community Paediatrician (see above)

The families GP, health visitor must be informed of the baby’s birth, diagnosis and any associated problems, a discharge letter completed and sent prior to discharge.

Speciality follow-up will be tailored to the specific needs of the baby.

All Leeds babies with Down Syndrome should be referred to the Developmental Massage Group. (These are weekly sessions cycled over 4 weeks, providing contact with the physiotherapy and occupational therapy teams, referral forms are kept with family information packs, otherwise contact child development centre, St James Hospital.)

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Provenance

Record: 3244
Objective:

Aims
The aim of this care pathway is to ensure all babies and their families receive appropriate medical screening, speciality referral and information in the period immediately following a diagnosis of Down syndrome.

Objectives
-To provide simple framework for the management of newborns with Down syndrome and reference the evidence-base to support these recommendations.
-To ensure that all babies and their families receive consistent high quality care and information.

Clinical condition:

Down Syndrome

Target patient group: Babies, and their families with Down Syndrome
Target professional group(s): Secondary Care Doctors
Secondary Care Nurses
Midwives
Adapted from:

Evidence base

  1. Cliff Cunningham, Down Syndrome: an introduction for parents and carers.  London: souvenir, 2006. 3rd rev. edition
  2. Quanhe Yang, Sonja A Rasmussen, JM Friedman.  Mortality associated with Down’s Syndrome in the USA from 1983 to 1997: a population-based study.  The Lancet, Vol 359, iss 9311, 23 March 2002, 1019-1025
  3. Schieve LA, Boulet SL, Boyel C et al.  Health of children 3 to 17 years of Age with Down Syndrome in the 1997-2005 National Health Interview Survey. Pediatrics. February 2009;123:e253.
  4. Freeman SB, Bean LH, Allen EG, et al.  Ethnicity, sex and the incidence of congenital heart defects: a report from the National Down syndrome Project.  Genet Med 2008;10:173e80.
  5. Flanders L, Tulloch R.  Cardiac problems in Down Syndrome.  Paediatrics and child health 2011;25-31
  6. Juan C, Kupferman C, Druschel M, et al. Increased Prevalence of renal and urinary tract anomalies in children with Down syndrome. Pediatrics 2009; 124;e615.
  7. Leno C, Mateo I, Cid C et al.  Autoimmunity in Downs Syndrome: another possible mechanism of Moyamoya Disease. Stroke 1998:29;868-869
  8. James R, Kinsey S.  Haematological disorders in Down Syndrome. Paediatrics and Child Health 2009:19(8); 337-380.
  9. Spender Q, Stein A, Dennis J et al.  An exploration of feeding difficulties in children with Down Syndrome. Dev Med Child Neurol 1996; Aug;38(8):681-94
  10. Charleton PM, Dennis J, Marder E.  Medical management of children with Down syndrome.  Paediatrics and child health, 2010:20(7); 331-337
  11. Guidelines produced by the DSMIG UK and the proceedings of the meeting at the Down Syndrome Medical Interest Group: www.dsmig.org.uk

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Approved By

Trust Clinical Guidelines Group

Document history

LHP version 1.0

Related information

Appendix 1 - Down syndrome Pack

Contents:
Boy and girls RCPCH Down syndrome PCHR inserts
Down Syndrome Association: New parent Guide
Down Syndrome Association: Friends and Family Leaflet.
Breast Feeding your Baby with Down Syndrome (Australian Breastfeeding Association Booklet Series).
Down Heart Group
Just Kids
‘Welcome To Holland’ by Emily Perl Kingsley
Hawthorn Family Support Centre Leeds
Sunshine and Smiles: Leeds Down Syndrome Support Network.

(DSA leaflets including non-English Language versions can be found on the Down Syndrome Association website,http://www.downs-syndrome.org.uk/.)

Packs are kept with:
2011 Down Syndrome Growth Chart.
Referral forms for the Developmental Massage Group.

Location of Packs:
LGI:  Resource Cupboard in the corridor between ITU and HDU
SJUH: Filling cabinet next to photocopier at ward clerk’s desk.

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Appendix 2:  Useful links

Down’s syndrome medical interest Groups UK
www.dsmig.org.uk

The Downs Syndrome Association
www.down-syndrome.org.uk

Down Syndrome Heart Group. 
www.dhg.org.uk

Breast feeding a baby with Down syndrome leaflet www.lalecheleague.org/faq/down.html

Information for parents – Down syndrome – Department for Education.
www.education.gov.uk/publications//EarlySupport//ES13

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Appendix 3: Leeds Area Post Codes

Leeds East District and North East Dsitrict.
Dr R Gulati, CDC, St James’s

Burmantofts LS9
Harehills LS9

Richmond Hill

LS9
Seacroft  LS14
Barwick LS15
Halton LS15

Crossgates

LS15 
Scholes LS15
Aberford  LS25
Garforth LS25
Kippax LS25
Micklefield LS25
Sherburn in Elmet LS25

Swillington

LS25
Allerton Bywater WF10

North East District
Dr A Kelly, CDC, St James's

Chapel Allerton LS7
Harehills LS8
Roundhay LS8
Thorner LS14
Scarcroft LS14
Whinmoor LS14
Alwoodley LS17

Bardsey           

LS17
Harewood LS17
Moortown LS17
Shadwell LS17
Weeton LS17
Wetherby LS22
Boston Spa  LS23
Tadcaster  LS24

Leeds South District
Dr. L. Highet/Dr. G. Robinson, CDC, St. George’s Centre

Beeston LS11 (DBC)
City  LS2
Holbeck LS11 (DBC)
Hunslet LS10 (DBC)
Methley  LS26 (GR)
Middleton LS10 (DBC)
Morley North LS27 (GR)
Morley South LS27 (GR)
Rothwell LS26 (GR)
  WF3 (GR)
  BD11 (GR)

Leeds North West District
Dr S Puri, CDC, Wortley Beck Health Centre

Adel LS16
Aireborough LS19
Bramhope LS16
Burley LS4
Cookridge LS16
Guiseley LS20
Headingley LS6

Horsforth

LS18
Kirkstall LS5
Otley  LS21
Pool LS21
Wharfedale LS21
University LS6

Weetwood

LS16
Yeadon  LS19

Leeds West District
Dr. A. Seal, CDC, Wortley Beck Health Centre

Armley LS12
Bramley LS13
Pudsey North LS28
Pudsey South LS28

Rodley

LS13
Wortley  LS12

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Appendix 4: Down Syndrome Newborn Discharge Checklist

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Equity and Diversity

The Leeds Teaching Hospitals NHS Trust is committed to ensuring that the way that we provide services and the way we recruit and treat staff reflects individual needs, promotes equality and does not discriminate unfairly against any particular individual or group.