Introduction: National Standards and Guidelines for referral of presumptive cases of congenital hypothyroidism (CHT) were developed in 2005 by the UK newborn bloodspot screening (NBS) programme centre (UKNSPC). The standards are being revised and NBS lab experience was explored as part of this process.
Methods: A short questionnaire was circulated to all 16 UK NBS laboratories. The information requested included details of referral pattern in the event of a positive or borderline result. Many of the units recruited the help of local paediatricians when completing the form.
Results: All 16 units responded. Most babies were referred to paediatricians, paediatricians with an interest, or more rarely, to paediatric endocrinologists. At one hospital referral was to a Clinical Nurse Specialist. The estimated numbers of health professionals involved per head of screened newborn population varied from 1/1800 to 1/120 000. Most paediatricians were unaware of the standardised information for families provided by the UKNSPC. Those who offered information leaflets to families used those on the BSPED website or the Child Health Growth Foundations general thyroid booklet. The time from parents hearing of results to clinic appointment was usually 1 or 2 days. Referral to a large number of different individuals was considered to be unsatisfactory because of the extent to which clinicians were uncertain about how to manage the clinical scenario with the duty biochemist frequently guiding the clinician.
Conclusions: The number of health professionals to whom babies with positive CHT screening test results are referred should be limited. There needs to be a named individual with an identified deputy who form part of a network with support from a tertiary centre as necessary. Updated, standardised parent information leaflets should be more readily available.