Expanded Newborn Screening a CNS Perspective Elaine Salmons

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

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.

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

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.

Role of NBS CNS

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

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 GA 1. 05/12/2020

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. 05/12/2020

Newborn Screening Dried Blood Spot Card 05/12/2020

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. 05/12/2020

Home Visit • Call family about 30 -60 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). 05/12/2020

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 05/12/2020

Feed Back to Specialist Centres and Labs Post Visit- • Call Duty Biochemist • Call ON Call Consultant and Metabolic Dietitian. 05/12/2020

Communication • Ensure GP, Midwife and Health Visitor are aware of suspected positive screening result and referral to specialist centre. 05/12/2020

Role of IMD CNS

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

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

The story of our First Baby with MSUD

MSUD : West Midlands case: The story of our first baby with MSUD Girl born at Birmingham Women’s Hospital. Full term 2. 84 kg. 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). • • •

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.

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.

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.

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 3700 u. M 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.

Any Questions? 05/12/2020