Table 2

UK guidelines for communicating positive NBS results from laboratories to clinical trams following a PP NBS result

Condition(s)Method of referral from laboratory to clinical teamTime frame for communicating a PP result to the clinical teamRequirements when communicating PP results to familiesTime frame for first clinic appointment
Congenital hypothyroidism8Verbally and in writing by secure email, including a link to the standardised diagnostic and initial treatment protocol, to either a paediatric endocrine team or a lead paediatrician with a special interest in CHTSame or next working day of the definitive NBS result being availableCommunicated to the family by an ‘informed health professional’ who should provide the family with the appropriate information leaflet available via the screening programme and the child’s appointment detailsMust take place on the same day or the next day after parents are informed of their baby’s positive NBS result
Cystic fibrosis5 9Refer the baby immediately to a designated person at the appropriate Regional CF Centre. The regional CF centre will usually be responsible for liaising with local CF clinicsWithin one working day of the definitive screening resultParents should be informed by an ‘appropriate health professional’ but not on a Friday, Saturday or Sunday and that ideally Thursday should be avoided as well. The family should be contacted via a structured telephone call in the first instance informing them that the result will be discussed later that day by a healthcare professional with appropriate experience and support to give bad news. Following this, the guidance states that the positive CF screening result may be given at a home visit but sometimes a second structured phone call might be used. In both instances, it is recommended this should be done by a healthcare professional with knowledge of screening and CFParents should be offered an appointment on the following day after they are informed of the PP result and the diagnostic assessment within five working days of receiving the result
Sickle cell disease7Must be reported as per local pathways, to the clinician and/or designated sickle cell and thalassaemia centreNot specifiedLocal protocols must ensure that PP results are given to parents by a trained healthcare professional face-to-face by 28 days of ageThe baby should enter the care of a specialist haemoglobinopathy centre by 90 days of age
Inherited metabolic diseases (IMDs) including (MCADD, MSUD, PKU, IVA, HCU and GA1)6Referral of all IMD PP patients should be undertaken in co-ordination with a clinical service that complies with the service specification for a paediatric IMD centre to ensure continuity of specialist care; PP cases should be reported to the specialist clinical team (or designated local team for PKU) verbally and in writingSame working day that the PP result is availableParents should be informed of the PP NBS result face-to-face, usually at home by a member of the relevant IMD team and provided with the relevant ‘suspected leaflet’ and details of the first clinic appointment (PKU). Provided with the relevant ‘suspected leaflet’ and details of the first clinic appointment via email (MCADD), by a member of the IMD specialist team (HCU) who should also liaise with the appropriate hospital until the baby can be transferred to the specialist IMD centre (MSUD, IVA and GA1)The baby should be: reviewed at an appropriate hospital within 24 hours (MCADD) or on the next working day via web link or in person (HCU); or the same or next working day (PKU); or taken to an appropriate hospital (if not an inpatient already) where initial assessment will take place and then transferred to a specialist IMD centre on the same day the PP screening result is available. If transfer is not available, the specialist team will liaise with the local hospital to arrange diagnostic testing and supply of dietary supplements (MSUD, IVA and GA1)
  • CF, cystic fibrosis; CHT, congenital hypothyroidism ; GA1, glutaric aciduria type 1; HCU, homocystinuria; IMD, inherited metabolic diseases; IVA, isovaleric aciduria; MCADD, medium chain acyl CoA dehydrogenase deficiency; MSUD, maple syrup urine disease; NBS, newborn bloodspot screening; PKU, phenylketonuria; PP, presumptive positive.