It is therefore advised that these babies have another test at either 28 days of age or immediately before the baby is discharged home, whichever comes first. 5. If this is the case, follow the steps as outlined below. These babies may not be detected by NBS screening using TSH measurement in early postnatal life (Mandel et al, 2000) and this is the rationale for repeat testing in preterm infants (<32 weeks gestation) as part of the NBS screening programme.  . The written policy can be found in the NBS screening sampling guidelines. From: Public Health England Published 1 February 2014 Last updated This is usually after a few days. False positive cases included transient CHT and babies in whom CHT was excluded at the initial clinical referral. On average, the Newborn Screening Program identifies 60-70 new cases of CH each year. This publication is available at https://www.gov.uk/government/publications/congenital-hypothyroidism-screening-laboratory-handbook/a-laboratory-guide-to-newborn-blood-spot-screening-in-the-uk-for-congenital-hypothyroidism. 7. Clinical information should be requested from clinical referral centres on each presumptive positive case. If you have specific questions about how this relates to your child, please ask your doctor.Â, Great Ormond Street Hospital for Children NHS There may be a spuriously high result if the blood spot is layered. Template letters are available for the screening laboratory to notify: ‘CHT suspected’ results should be communicated directly to the parents by an appropriately trained healthcare professional. Complete the blood spot card to indicate which conditions have been accepted or declined, as outlined in the NBS screening sampling guidelines. Action is taken on the triplicate mean result. It needs to be performed frequently enough to permit referral of screen positive results within 2 to 4 working days of sample receipt. Standards data should be submitted to the NBS screening programme on an annual basis. Any proposal to introduce new analytical methods needs careful collective consideration by the CHT screening advisory board and must meet the recommended specification. If these signs and symptoms are present, they may include feeding difficulties, sleepiness, constipation and jaundice (the skin may look yellow). He or she will also have a special scan of the neck that allows doctors to see if the child's thyroid gland is present and in the right place (explained below). ‘CHT suspected’ results require follow-up/clinical referral. This is the rationale for the repeat testing strategy described in the earlier sections on general organisation and the preterm repeat policy. Aleksander et al (2018) have documented excellent outcomes among children with CHT who are started on an appropriate dose of thyroid hormone soon after birth, and who are then monitored closely. If the average of both results is ≥8.0 mU/L, then proceed as shown in the CHT screening protocol flowchart. Congenital hypothyroidism is treated by replacing the thyroxine that the body cannot produce. Guidelines on newborn screening and therapy for congenital hypothyroidism have been released by the American Academy of Pediatrics (AAP). Symptoms and signs include the following: 1. There must be a documented risk management policy for the laboratory aspects of the CHT screening programme as part of an overall pathway risk assessment. The initial screening test, the assay of TSH, uses blood collected on the standard newborn screening blood sample collection card. Several factors are known to lower TSH concentrations in babies with CHT, leading to a false negative screening results. Congenital hypothyroidism occurs when a baby is born without the ability to make normal amounts of thyroid hormone. NBS screening standards are a set of measures that must be met to make sure screening is safe and effective. In all types of congenital hypothyroidism, the thyroid does not make enough of certain hormones that the body needs. A repeat dried blood spot sample should be requested to be taken 7 to 10 days after the initial sample and assayed for TSH in duplicate. Samples taken when the baby is greater than 12 months and 14 days of age should not be analysed. Yes: Re-test for TSH in duplicate from the same blood spot card, but using a different spot(s). Go to question 7. Due to the neonatal TSH surge in the first few hours of life, screening using this protocol cannot be accurately completed until TSH has decreased. All content is available under the Open Government Licence v3.0, except where otherwise stated, Programme standards, data collection and screening safety incidents, NHS newborn blood spot (NBS) screening programme, Laboratory guide to screening for CHT in the UK, nationalarchives.gov.uk/doc/open-government-licence/version/3, United Kingdom National External Quality Assessment Service (UK NEQAS), guidance for managing safety incidents in NHS screening programmes, Coronavirus (COVID-19): guidance and support, Transparency and freedom of information releases, improve consistency across the screening programme, provide guidance on achieving good quality by application of standards and audit, their thyroid gland has not developed normally (thyroid dysgenesis), the thyroid gland cannot produce active thyroid hormone due to an inherited enzyme deficiency (thyroid dyshormonogenesis), is characterised by abnormal thyroid development or function, accounts for about 90% of all cases of primary, is characterised by permanent abnormality of thyroid hormone release, usually means long-term thyroid hormone replacement treatment is needed beyond 3 years of age, accounts for about 10% of all cases of primary, is characterised by transient abnormality of thyroid hormone release, usually means thyroid hormone replacement treatment is needed up to around 3 years of age, is characterised by abnormal pituitary thyroid stimulating hormone (, antibody transfer from mother across the placenta, minimise the need for second heel pricks, and any other causes of diagnostic delay, avoid duplicating follow-up or diagnostic testing, identify whether a baby has already started treatment (which has implications for the screening result), British Society of Paediatric Endocrinology (, British Association of Perinatal Medicine (, UK Newborn Screening Laboratory Network (, the offer of screening is completed while the baby is an inpatient, the responsibility for taking the sample is clear, resources can be used more efficiently because there is less need to chase for a repeat sample in the community, the steps in the testing protocol where failures are more likely to happen, the procedures that have been implemented to minimise the risk of things going wrong, El Ezzi and Hakim (2003), which concludes that the results presented show that the blood spots used for neonatal screening for, repeat blood spot sample (also in duplicate) is elevated (screen positive), but is not confirmed on follow-up (in other words, confirmatory diagnostic testing results are normal), to the paediatric endocrine team (regional specialist team), or, to a clearly identified lead paediatrician with a special interest in, the designated clinician for a baby with suspected, serious incidents in screening programmes. It makes iodine-containing hormones that play an important role in regulating growth, brain development, … The annual data collection template is shared with the screening laboratories via email each year, with instructions for completion and submission. Most newborns with congenital hypothyroidism do not have any signs or symptoms of the condition. For the first couple of years, the child will need regular blood tests to check these levels. We do not recommend ‘early’ screening for siblings (prior to day 5, counting day of birth as day 0). Doctors use the information from these tests to work out the right dose of thyroxine for the child, which changes as they gain weight and develop. The blood spot sample should be taken on day 5 for all babies regardless of medical condition, milk feeding and prematurity. End of pathway. Reports of all screening results should have a generic disclaimer saying: ‘These tests are screening tests. Sometimes only 2 TSH results can be obtained (for example, when only one further spot from the card is possible after the initial analysis). This is providing the sample is not contaminated with EDTA/heparin and the line is cleared of infusate. Once the sample has been received in the laboratory, perform thyroid stimulating hormone (TSH) analysis (in singleton). The medicine is easily available and can be ordered on repeat prescription from the child's family doctor (GP). Transient CHT can be caused by a variety of factors, including: Transient CHT is more common in preterm babies. All safety concerns and incidents must be reported and managed in accordance with the guidance for managing safety incidents in NHS screening programmes. This accounts for approximately 10% of all CHT cases. This will help to ensure normal growth and intellectual function. No: Report ‘CHT not suspected’. 3. Some signs and symptoms that your baby may have include:3 1. These babies are referred, regardless of their gestational age at birth, to the paediatric endocrine team (regional specialist team) or to a clearly identified lead paediatrician with special interest in CHT or experience in managing these patients. Storage after analysis should follow the guidelines provided in the NBS screening programme standards. The set of triplicate results should be reviewed for consistency, as poor analytical performance can produce different results. End of pathway. TSH is relatively stable. Routine newborn blood spot (NBS) screening completed. These may be due to process errors, contamination or interference, or have a physiological basis (for example, the presence of maternal antibodies or acute illness). Inheritance Pattern. The scan is painless and uses a special intravenous marker that is only taken up by the thyroid gland. No: Request a ‘CHT borderline’ repeat sample. At least 72 hours is recommended, as for other screening tests, to allow pre-transfusion levels to be reached. However, if given too little thyroxine, the child will develop the symptoms of hypothyroidism outlined earlier, and over a long period, may grow more slowly than usual. Congenital hypothyroidism occurs sporadically and is not usually an inherited disorder.

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