congenital hypothyroidism newborn

Clinical information should be requested from clinical referral centres on each presumptive positive case. We do not recommend ‘early’ screening for siblings (prior to day 5, counting day of birth as day 0). If a second sample is requested for a preterm baby (born at <32 weeks gestation) with a previous (unreported) screening result of ‘CHT not suspected’: If a borderline result is detected at this stage, a further sample is to be taken 7 to 10 days after the initial sample. Sometimes only 2 TSH results can be obtained (for example, when only one further spot from the card is possible after the initial analysis). Thyroid hormone secretion is regulated by thyroid-stimulating hormone (TSH), also known as thyrotropin, which is secreted by the pituitary gland. Illinois began screening for congenital hypothyroidism in 1979 and has since identified more than 1,500 cases. Each laboratory should assign acceptable ranges for these samples. We’ll send you a link to a feedback form. Normal thyroid hormone levels are needed to assure that growth and develop occur normally and that the heart, muscles and other organs are working correctly. Since the advent of newborn … 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. Congenital hypothyroidism is a disorder affecting the thyroid gland, which is in the neck. Requests for second blood samples for TSH testing will be made via locally agreed pathways defined as part of the newborn screening responsibilities. Data on each case notified should be collated and anonymised before submission to the NBS screening programme. Thyroid hormones are essential for normal childhood growth and development. NHS Foundation Trust, The Endocrinology Departments in collaboration with the Child and Family Information Group, Staying safe at GOSH and outside the hospital, Coming to GOSH for a day or inpatient admission, Coming to GOSH for an outpatient appointment, Endocrinology information for parents and visitors, Congenital hypothyroidism F0014 A4 bw FINAL Sep15.pdf, everything you need to know for your visit, Digital Research, Informatics and Virtual Environments. London WC1N 3JH, © 2021, Great Ormond Street Hospital for Children Most cases of congenital hypothyroidism happen because the thyroid doesn't form correctly in the baby during pregnancy. To help us improve GOV.UK, we’d like to know more about your visit today. They should be reported as ‘CHT not suspected’, unless the baby was born at less than 32 weeks gestation. Congenital hypothyroidism is a disorder affecting the thyroid gland, which is in the neck. Does the ‘CHT borderline’ sample result indicate that CHT is suspected? It needs to be performed frequently enough to permit referral of screen positive results within 2 to 4 working days of sample receipt. Thyroid dysgenesis: Most babies with permanent, primary CHT have thyroid dysgenesis with an absent, ectopic or hypoplastic gland. No: Report ‘CHT not suspected’. Any proposal to introduce new analytical methods needs careful collective consideration by the CHT screening advisory board and must meet the recommended specification. Diagnostic testing conducted to confirm a case from newborn screening may provide additional information on recurrence. Nevertheless, these samples should be analysed and reported to avoid any potential delays. End of pathway. In practice it may be impossible to differentiate an incorrect or artefactual result on the screening specimen from a genuine increase of TSH which is transient and not present at diagnostic follow-up. Take the ‘CHT preterm’ repeat sample on Day 28 or on discharge home (whichever is sooner). Is the TSH equal to or greater than the action cut-off of 8.0 mU/L WB mean? Babies in whom the triplicate mean TSH concentration in the initial screening sample is ≥20.0 mU/L WB should be considered to have a positive screening result for CHT and should be reported as ‘CHT suspected’. Venepuncture or venous/arterial sampling from an existing line is an alternative method to collect the blood spot sample. If you have specific questions about how this relates to your child, please ask your doctor.Â, Great Ormond Street Hospital for Children NHS The following 2 studies have shown that a genetic defect can be identified in many babies with DHG if a thorough molecular genetic screening strategy is employed: This illustration below describes the classification of CHT. The symptoms and signs of Primary CHT can include (Grant et al, 1992): CHT differs in clinical and biochemical severity and babies at the mild end of the spectrum may be asymptomatic in the neonatal period. Does the routine NBS sample result indicate that CHT is not suspected? A group of experts reviewed the evidence and concluded that the optimal gestational age threshold for repeat testing is ≥32 weeks gestation. Don’t include personal or financial information like your National Insurance number or credit card details. Recurrence is unusual in the case of thyroid dysgenesis, but there is likely to be autosomal recessive inheritance with a 1 in 4 recurrence risk for families of babies with thyroid dyshormogenesis. Because thyroxine medicine is simply replacing a normal chemical produced by the body, giving the correct dose every day should not have any side effects. See the earlier section on general organisation and the CHT classification illustration. Generic guidelines (based on the stability of all analytes) state that samples are unsuitable for testing if they arrive at the laboratory more than 14 days after being taken. Once the sample has been received in the laboratory, perform thyroid stimulating hormone (TSH) analysis (in singleton). This should be taken 7 to 10 days after the previous sample was taken. Most babies with congenital hypothyroidism are diagnosed very early, before they have any symptoms. Transient CHT can be caused by a variety of factors, including: Transient CHT is more common in preterm babies. Testing should be performed before discharge or within 7 days of birth. The following actions are undertaken on the second sample depending on the reason for its request. 1. Don’t worry we won’t send you spam or share your email address with anyone. 3. Go to question 5. Prematurity: Preterm babies (particularly when <32 weeks gestation) may have a primary thyroid problem that escapes detection because TSH concentrations do not appear to increase in these infants in the way that they do in more mature babies. Several factors are known to lower TSH concentrations in babies with CHT, leading to a false negative screening results. Hypothyroidism refers to an underactive thyroid gland. Find out more about the Endocrinology specialty including clinic information, staff members and contact details. They may need to be investigated independently according to clinical circumstances as well as being screened in the normal way. Inheritance Pattern. Babies in whom the TSH concentration is <6.0 mU/L whole blood (WB) (the analytical cut-off) in the initial screening sample should be considered to have a negative screening result for CHT. Is the TSH equal to or greater than 20.0 mU/L WB mean? It will take only 2 minutes to fill in. Samples with TSH greater than or equal to the analytical cut-off (≥6.0mU/L WB) are retested in duplicate from the same card but on a different spot(s) to give a more definitive result. The analytical cut-off is 6.0 mU/L whole blood (WB). The clinical manifestations are often subtle or not present at birth. There is another very rare type of hypothyroidism in which a child's thyroid gland is in the right place, but it cannot produce thyroxine. If untreated, congenital hypothyroidism can lead to intellectual disability and … Does the routine NBS sample result indicate that CHT is suspected? The initial screening test, the assay of TSH, uses blood collected on the standard newborn screening blood sample collection card. This is due to the presence of some maternal thyroid hormone or residual thyroid function. TSH analysis should be carried out on a single spot from the initial dried blood sample. ‘CHT suspected’ results require follow-up/clinical referral. The repeat request should be confirmed in writing to the appropriate health professional(s), outlining the reason for the repeat sample and when it should be completed. Take the ‘CHT borderline’ repeat sample 7 to 10 days after the previous sample was taken. Physiological evidence suggests that 28 days is the postnatal age by which maturation of thyroid function has occurred in most very preterm infants. Early sampling: 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, usually after a few days. The annual data collection template is shared with the screening laboratories via email each year, with instructions for completion and submission. TSH is relatively stable. Foundation Trust For babies born at less than 32 weeks gestation, a repeat request should be issued as per the CHT preterm repeat policy, using the status code for ‘repeat sample required for CHT preterm’. According to a study looking at UK data, variations in iodine status do not have a major impact on blood spot TSH concentrations (Evans et al, 2014). Screening for CHT aims to detect infants who do not produce adequate thyroxine from birth because: CHT screening is fully integrated within the existing NBS screening programme and based on the same screening laboratory populations. However, in the case of premature infants who need repeat testing at 28 days, tests will not be completed until the baby is over a month old. They should be reported as ‘CHT not suspected’, unless they were born at less than 32 weeks gestation (less than or equal to 31 weeks + 6 days). This handbook is for laboratories that provide a newborn blood spot (NBS) screening service for congenital hypothyroidism (CHT) in the UK. The newborn experiences a TSH surge post birth which peaks at 30 minutes of age. We’d like to set additional cookies to understand how you use GOV.UK, remember your settings and improve government services. This may take a few weeks despite adequate thyroxine treatment. The NBS screening programme is designed to detect only primary CHT. This is the rationale for the repeat testing strategy described in the earlier sections on general organisation and the preterm repeat policy. 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). No alternative is recommended. Capillary tubes (plain or heparinised) must not be used to collect blood samples. CHT is a disorder which means that not enough thyroid hormones are produced – mainly thyroxine (T4), but also tri-iodothyronine (T3) – by the thyroid gland. A discrepant result may occur when a repeat sample detects a raised TSH concentration of ≥8.0 mU/L WB where there is a previous ‘CHT not suspected’ result in a baby born ≥32 weeks gestation. Once treatment starts, TSH and thyroid hormone concentrations are closely monitored so that levels are maintained within or close to local age-appropriate reference ranges. Though still a prevalent nutritional disease worldwide, iodine deficiency rarely causes congenital hypothyroidism (CH) in western countries. ‘CHT not suspected’ results should be communicated to the parents by 6 weeks of age. If the average of both results is ≥8.0 mU/L, then proceed as shown in the CHT screening protocol flowchart. Each screening laboratory should have an agreed arrangement for the follow-up and referral of all CHT suspected cases, which should be in line with the CHT initial clinical referral guidelines. No: Request a ‘CHT borderline’ repeat sample. Babies with significant endogenous thyroid hormone production may need smaller initial thyroxine doses than babies who cannot make any thyroid hormone at all. The NBSFS user guide and the NBSFS operational level agreements for laboratory users provide more information about how to use the NBSFS. It is the responsibility of the designated clinician to make sure the forms are completed and returned to their respective laboratory directors. If the disorder is present at birth, it is called congenital hypothyroidism. Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. There may be a spuriously high result if the blood spot is layered. The scan is painless and uses a special intravenous marker that is only taken up by the thyroid gland. However, it may still be necessary for your child to be monitored by the audiology department for some months. The preterm policy therefore mandates repeat testing of all babies born at less than 32 weeks gestation (less than or equal to 31+6 days) at 28 days postnatal age (counting day of birth as day 0) or at discharge home, whichever is the sooner. Evidence-based information on congenital hypothyroidism in newborn from hundreds of trustworthy sources for health and social care. The early detection and treatment of congenital hypothyroidism (CH) prevents intellectual disability and optimises growth and developmental outcomes. Go to question 4. In some babies this does not happen, which means that the gland cannot work properly. Guidelines for laboratories screening newborns for congenital hypothyroidism (CHT) in the UK. The following actions should be taken depending on the results, whereby: A comparison between the whole blood TSH cut-off levels of 6, 8 and 10mU/L was carried out by Knowles et al (2018). Action is taken on the triplicate mean result. The original sample should be tested and only reported if ≥8.0 mU/L. Secondary CHT due to generalised pituitary failure or isolated TSH deficiency will not be detected as described in the CHT classification illustration. 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. Children with a confirmed diagnosis of CHT should be treated with oral levothyroxine sodium without delay. Go to question 7. Take the ‘CHT preterm’ repeat sample on Day 28 or on discharge home (whichever is sooner). The blood spot sample should be taken on day 5 for all babies regardless of medical condition, milk feeding and prematurity. Once the child is two or three years old, they will need fewer blood tests as the dose of thyroxine will be calculated according to how he or she is growing. See below for a text description of the CHT screening protocol flowchart. Although missing an occasional dose will not cause any immediate problems, it is best to try and make sure that the child takes their medicine regularly each day and therefore keeps a steady level of thyroxine in their blood. This is about 1 to 2% of all babies (Moser et al, 2007). The majority of thyroid dysgenesis cases do not have an identifiable genetic cause(Peters et al, 2018). Transient disorders of thyroid function are more common than true congenital hypothyroidism, especially in preterm infants. The majority of cases will be detected by newborn screening. There are 2 types of permanent primary CHT: dysgenesis and dyshormonogenesis. The programme is a service that seeks to balance the interests of families where a child is identified as having CHT versus the interests of the large majority of families where children are unaffected. CHT can be caused by a problem with the thyroid gland itself (primary hypothyroidism) which affects around 1 in 2,000 babies, or with the production of TSH (secondary or central hypothyroidism) which affects around 1 in 20,000 babies (Peters et al, 2018). The explanation to be given to parents that a second sample is needed to confirm the result (either positive or negative). Infants with congenital hypothyroidism are usually born at term or after term. Ideally, the laboratory will send screening results to CHRDs/CHISs and the newborn blood spot failsafe solution (NBSFS) using electronic messaging. Internal quality control samples covering at least 2, but ideally 3, TSH levels should be included with each analysis batch. On detecting a borderline result, a second sample is to be taken 7 to 10 days after the initial sample. The medicine is easily available and can be ordered on repeat prescription from the child's family doctor (GP). Yes: Report ‘CHT suspected’ and refer. Congenital hypothyroidism occurs when a newborn infant is born without the ability to make normal amounts of thyroid hormone. The written policy can be found in the NBS screening sampling guidelines. Gain consent. See the CHT preterm repeat policy algorithm flowchart for further details. The laboratory should refer babies with positive screening results for CHT the same or next working day following confirmation of a positive result. 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. 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. The NBSFS is an IT system that identifies babies, born in England, who have missed NBS screening and is used by all maternity units across England. This group had representatives from the: The decision on the optimal gestational age threshold was informed by published evidence, including that from a study to clarify postnatal trends in postpartum serum thyroid hormones in preterm infants (Williams et al, 2004). The reason for this request should be given as ‘insufficient sample’. Does the ‘CHT preterm’ sample result indicate that CHT is suspected? Please remember that it is extremely rare for serious hearing problems to occur as a result of congenital hypothyroidism. False positive cases included transient CHT and babies in whom CHT was excluded at the initial clinical referral. Screening for CHT should not be undertaken prior to day 5 (counting day of birth as day 0). It makes iodine-containing hormones that play an important role in regulating growth, brain development, … Hypothyroidism in neonates is characterised by decreased thyroid hormone production, in rare cases no thyroid hormones are produced. Confirmatory testing should be undertaken in cases where the cause or permanence of hypothyroidism has not been confirmed. Once the baby is above this age, then they are no longer eligible for screening. The condition occurs in about 1 in 3,000-4,000 children, is most often permanent and treatment is lifelong. However, screening for congenital hypothyroidism has been happening in the UK for long enough for us to know that almost all children who are diagnosed and treated from an early age will grow up normally. 7. Hypothyroidism refers to an underactive thyroid gland. In the UK, all babies are tested for congenital hypothyroidism soon after birth, using a tiny amount of blood taken from pricking their heel. Laboratories should publish the results and performance of their NBS screening programme in an annual report. Some parents may decide that they do not want their baby to be screened for some or all of the conditions. Causes of transient CHT include prematurity, exposure to drugs such as iodine, some causes of DHG and illness. In all types of congenital hypothyroidism, the thyroid does not make enough of certain hormones that the body needs. This is to minimise effects of volumetric variability of the punched discs, day-to-day variation in TSH assay calibration, and to detect possible sample misidentification. These problems can be reduced if hypothyroidism is picked up early and treated as described above. If screening is accepted, the sample must be taken no later than 14 calendar days after the baby’s first birthday. Newborn screening for congenital hypothyroidism (CH) allows the early identification and treatment of affected infants, leading to the virtual disappearance of moderate or severe intellectual disability due to neonatal hypothyroidism. Long term follow-up studies by Grosse and Van Vliet (2011) and Why this happens is often unknown, but in some cases it is genetic. It is important to include an internal quality control (IQC) close to the borderline TSH cut-off of 8.0mU/L. If there is any suspicion about the integrity of the sample, it should be rejected and a repeat requested. See the initial clinical referral guidelines for further information. Both papers add that when stored at 4-8 °C or -20 °C, samples are stable for several months. On other occasions the thyroid gland does not develop at all. The second dried blood spot specimen is for TSH testing only. Babies in whom the triplicate mean TSH concentration in the initial screening sample is <8.0 mU/L WB (the action cut-off) should be considered to have a negative screening result for CHT. Children with permanent CHT will need thyroxine treatment for life and therefore need long-term monitoring and follow-up. Screening is completed on day 5 in line with the newborn blood spot screening pathway. When a baby is born with abnormally low thyroid function, known as congenital hypothyroidism (CH), parents are understandably worried. For this reason, all young children coming to Great Ormond Street Hospital (GOSH) for diagnosis and treatment of congenital hypothyroidism will have a detailed hearing assessment at about six weeks of age. 4. 3. 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. At least 72 hours is recommended, as for other screening tests, to allow pre-transfusion levels to be reached. 1. If the child has too much thyroxine, he or she may develop mild diarrhoea, not put on weight, may be more restless than usual and over a long period may grow more quickly than usual. This detects neonates with primary hypothyroidism but not those with a deficient TSH (2o/30 hypothyroidism… At birth, the baby may have no thyroid gland at all, or have a small, partially developed gland. All health care professionals involved in the NBS screening pathway have a part to play in meeting standards. If the thyroid gland does not produce enough thyroxine, it causes hypothyroidism. It is very important that the above tests are carried out soon after the heel prick blood tests are known. Quality assurance (QA) and performance management arrangements follow the same general principles as those for other newborn screening programmes. Newborn … No: Request a ‘CHT borderline’ repeat sample. If the thyroid gland does not produce enough thyroxine, it causes hypothyroidism. More than 99% of results are ‘CHT not suspected’ and generated promptly. This is extremely useful information as it allows us to tell you whether there is a chance of the condition happening in another child that a parent might have. Samples should be transported to the laboratory in the usual way and kept in a dry environment at room temperature or 4°C before analysis. No further action required. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. On average, the Newborn Screening Program identifies 60-70 new cases of CH each year. Possible causes of false positives are listed below. It defines a framework for the pre-analytical, analytical and post-analytical steps in the newborn screening process so as to: You should use it alongside other NHS NBS screening programme guidance. This publication is licensed under the terms of the Open Government Licence v3.0 except where otherwise stated. The subsequent repeat sample should be treated the same as in the scenario below. Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). For the first couple of years, the child will need regular blood tests to check these levels. The medicine only needs to be given once a day. A discrepant result may also occur when a repeat sample is requested for another condition, or an unrequested additional repeat as been unavoidably analysed for CHT. Standards data should be submitted to the NBS screening programme on an annual basis. This initiates the clinical referral of screen positive cases. If this is the case, follow the steps as outlined below. As discussed in the earlier ‘about CHT’ section, babies presenting with clinical symptoms, and babies known to be at risk due to family history, should be regarded as high risk. If this test shows that the baby possibly has hypothyroidism, it will be recommended that he or she have further blood tests to confirm the diagnosis. Congenital Hypothyroidism usually results when a baby is born without a thyroid gland, but there are many other causes of this disorder. Go to question 3. Ideally discs should be punched from different spots. Screening for CHTaims to detect infants who do not produce adequate This study demonstrated that the screening test had optimal sensitivity and specificity to detect children with persistent CHT at 3 years of age, without a significant increase in the false positive rate, at a TSH cut-off of 8.0mU/L. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. This is usually in liquid form but tablets can also be used. Take the NBS sample on Day 5 (day of birth is counted as Day 0) in line with the newborn blood spot screening pathway. Does the ‘CHT preterm’ sample result indicate that CHT is not suspected? Storage after analysis should follow the guidelines provided in the NBS screening programme standards. Thyroid dyshormonogenesis (DHG): A minority of babies with permanent, primary CHT have thyroid DHG. No screening test is 100% reliable.’ Such a disclaimer is particularly relevant to CHT because of the variable nature of the condition, as outlined in the earlier ‘about CHT’ section. Congenital hypothyroidism F0014 A4 bw FINAL Sep15.pdf (139.4 KB). But, as described above, the correct dose for the child will be calculated on a regular basis, so these effects are unlikely to occur. DHG cases were thought to represent around 20% of permanent primary CHT, but this figure may be an underestimate. This details the accountabilities for reporting, investigating and managing NHS screening programme safety incidents. 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. Screening results are fed back to child health records departments (CHRDs), with onward transmission of negative results to the parents. Introduction Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000-1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases. The policy for CHT screening in preterm infants was implemented in all 4 UK countries in April 2012. Samples are initially assayed in singleton. Blood spot sampling should be carried out according to the NBS screening sampling guidelines. If a ‘CHT borderline’ result has been reported: If the baby was born at less than 32 weeks gestation, a further repeat request should be issued as per the CHT preterm repeat policy, using the status code for ‘repeat sample required for CHT preterm’. 2. When a ‘CHT borderline’ result has been reported. The sensitivity and specificity of the CHT screen are crucially dependent on the performance of the TSH assay. If these signs and symptoms are present, they may include feeding difficulties, sleepiness, constipation and jaundice (the skin may look yellow). Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. From directions to support services and general health advice; everything you need to know for your visit.Â, Please note this is a generic GOSH information sheet so should not be used for the diagnosis or treatment of any medical condition. Screening was already taking place in Scotland (since 1979) and Northern Ireland (since 1980). They will need to take thyroxine for the rest of their life, but this quickly becomes routine. Permanent neurodevelopmental deficits were known to occur when CH was not recognized and adequately treated by 2 to 3 months of postnatal age. These must include external QA and accreditation assessments to agencies with a legitimate interest in the quality and safety of the programme on behalf of the public. The laboratory should follow the procedures detailed in the manufacturer’s instructions. From: Public Health England Published 1 February 2014 Last updated congenital hypothyroidism, newborn screening, TSH, cutoff. 6. Low thyroid hormone concentrations in the first 2 years of life can have a harmful impact on neurodevelopment. Guidance on family history is available in the NBS screening handbook. This will help to: Screening should be offered to all eligible babies under a year of age without documented results (or declines). 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. In these situations, you should: The revised screening result for the baby needs to be carefully communicated to the appropriate health professional for onwards transmission to the parents. The following 2 papers report on the stability of TSH in dried blood spot samples when stored at room temperature: On this basis, samples greater than one month old should not be analysed to report TSH concentrations. 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