1. Expanded Newborn Screening – a CNS Perspective
Elaine Salmons – Clinical Nurse Specialist for Newborn Screening and IMD

2. The Nursing Team Lead Nurse for Newborn Screening and IMD
2 F/T Nurses IMD and NBS
1.5 Nurses IMD
Within IMD we all have areas of specialist interest but cross cover.

3. The Role of the Specialist Nurse
Child and Family
Advocate
Resource
Research
Liaison
Expert Practitioner
Role model
Leader
Educate

4. Multi-disciplinary working
Support for families is achieved by using a multi-disciplinary, multi-agency approach.
Collaborative care is initiated from the specialist centre to include local health, social and educational professionals.
Aim is for families to feel supported within the local community and home settings.

5. Role of NBS CNS

6. Duty Biochemist for NBS Specialist Consultants
NBS for the Child
&
family
NBS Nurse Specialist
Duty Biochemist for NBS
Specialist Consultants
Medical Secretaries
CNS
Midwives
Health Visitors
GPs
Lab Staff

7. Education of Midwives and other Healthcare Professionals
The aim is to -
Avoid repeated puncturing of babies due to poor sample/technique. Earlier diagnosis.
To inform about and ensure Newborn Screening standards are achieved.
Education of Midwives re CF, PKU, MCADD, SCD, CHT, MSUD, IVA,HCU and GA1.
06/11/2018

8. Informed of Suspected Positive Result
The duty Biochemist for Newborn Screening informs us that there is a baby with suspected positive screening result
Copy of the Newborn Screen dried blood spot card is given to us.
The Duty Biochemist contacts the IMD Consultant to refer the baby to the Metabolic Team.
06/11/2018

9. Newborn Screening Dried Blood Spot Card
06/11/2018

10. Contact Midwife/Health Visitor and Arrange Home Visit
Midwife contact number is on screening card.
Health Visitor via GP. Name of GP but no address on card or contact number.
The family contact number and address should be on the card.
We will usually be the first people to meet the family and give them the news of the suspected diagnosis.
06/11/2018

11. Home Visit
Call family about mins before visit or arrange to visit with M/W or H/V and they make a routine appointment. Ideally always a joint visit.
Give result of suspected positive for one of the IMD conditions.
If father not present ask if they want to call him home (or friend or family member).
06/11/2018

12. Home Visit
Assess families understanding of the condition (it is very rare they know anything).
Give basic information and correct misconceptions.
Assess baby.
Letter from BCH
Appropriate Suspected Leaflet
Blood/Urine/Stool sample
06/11/2018

13. Feed Back to Specialist Centres and Labs
Post Visit-
Call Duty Biochemist
Call ON Call Consultant and Metabolic Dietitian.
06/11/2018

14. Communication
Ensure GP, Midwife and Health Visitor are aware of suspected positive screening result and referral to specialist centre.
06/11/2018

15. Role of IMD CNS

16. IMD CNS To continue on from where the NBS finishes.
Education, support and liaison.

17. Other Nurse Specialist
IMD CNS and the Family
Other Nurse Specialist
IMD
Consultant
Physio
Speech
And
Language
Pharmacy
Psychology
CCNs & Homecare
Other
specialists
Respite
School
Local
hospital
Metabolic Dietitians
Ward Nurse
BCH Medics

18. The story of our First Baby with MSUD

19. MSUD : West Midlands case: The story of our first baby with MSUD
Girl born at Birmingham Women’s Hospital.
Full term 2.84kg.
Discharged home.
Routine NBS sample taken on day 6 (Monday).
Arrived in lab Tuesday pm/Wed am.
Punched day 8 (Wed am) and
analysed.
Result available day 9 (Thu am).
Leucine 2,500 umol/L
(cut-off 500).

20. Cont.. Immediate confirmation in duplicate on same sample.
Clinical Nurse Specialist alerted and made urgent home visit (still day 9).
Baby was lethargic, not responding well to stimuli.
First baby, mother had realised baby was “a little under the weather” but had not realised how serious the situation was.

21. This case demonstrates that:
Taking the sample a day later, or
Delay in getting the sample to the lab, or
Poor quality sample requiring repeat, or
Delay in analysis
Could have lead to a significantly worse outcome
Newborn screening is a multidisciplinary function.
We all need to play our part in a timely fashion.
To ensure that tragedies are avoided and that children has the best possible outcomes.

22. Our Second Baby with MSUD
Baby 2 was born after an uncomplicated pregnancy by normal vaginal delivery at 36/40. She was born in good condition and did not require any resuscitation at birth.
Discharged home after 2 days having been treated for suspected infection due to prolonged preterm rupture of membranes. She is the first child born to consanguineous parents. There is no history of previous miscarriages or early neonatal death. There is no family history of any significant disabilities. She was not on any medication and had her BCG vaccination after birth.

23. Admitted a local hospital on day 9 with a history of increasing drowsiness and some cycling movements. She was given phenobarbitone with good effect and was given dextrose infusion for hypoglycaemia.
Treated for a presumed infection although a metabolic disorder was also suspected.
The following morning she was detected from the Expanded Newborn Screening Programe as having Maple Syrup Urine Disease based on a leucine level of 3700uM from a bloodspot taken on day 5 of life.
Following this result and the appreciation that Baby was unwell with symptoms entirely consistent with MSUD, she was immediately retrieved to the Paediatric Intensive Care unit at Birmingham Children's Hospital.

24. Any Questions?
06/11/2018