congenital hypothyroidism newborn

Babies in whom the triplicate mean TSH concentration in the initial screening sample is ≥8.0 mU/L and <20.0 mU/L WB should be considered to have a borderline result for CHT and should be reported as ‘CHT borderline’. 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. This will help to ensure normal growth and intellectual function. 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. The newborn experiences a TSH surge post birth which peaks at 30 minutes of age. 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. The explanation to be given to parents that a second sample is needed to confirm the result (either positive or negative). 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. Once the ‘CHT borderline’ repeat sample has been received in the laboratory, test for TSH in duplicate (ideally discs should be punched from different blood spots). It is important to include an internal quality control (IQC) close to the borderline TSH cut-off of 8.0mU/L. 2. In the UK, around one in every 3500 newborn babies have congenital hypothyroidism. Congenital Hypothyroidism usually results when a baby is born without a thyroid gland, but there are many other causes of this disorder. This is where the thyroid gland is present in its’ usual position in the neck, but cannot manufacture thyroid hormone normally. But, as described above, the correct dose for the child will be calculated on a regular basis, so these effects are unlikely to occur. False-positive TSH elevations may be found in specimens collected at 24-48 hours after birth, and false-negative results may be found in critically ill newborns … The following actions are undertaken on the second sample depending on the reason for its request. Go to question 3. Offer routine NBS screening for all preterm babies (babies born at less than 32 weeks gestation). 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. DHG cases were thought to represent around 20% of permanent primary CHT, but this figure may be an underestimate. Because thyroid hormone plays such an important role in brain development and growth, all babies born in the United States, Canada and other developed countries undergo a screening test to check thyroid function … The subsequent repeat sample should be treated the same as in the scenario below. 4. The thyroid gland produces a hormone (chemical substance) called thyroxine, which is needed for normal growth and development. Hypothyroidism in neonates is characterised by decreased thyroid hormone production, in rare cases no thyroid hormones are produced. Permanent primary CHT in the UK (where there is a long-term requirement for thyroid hormone treatment) is usually due to one of 2 main underlying abnormalities. Congenital hypothyroidism F0014 A4 bw FINAL Sep15.pdf (139.4 KB). This should describe: Laboratories should take part in an approved external quality assessment (EQA) scheme, which assesses laboratories on the precision and accuracy of analytical steps. 5. The ‘CHT suspected’ information can support healthcare professionals to have this conversation. Quality assurance (QA) and performance management arrangements follow the same general principles as those for other newborn screening programmes. Data on each case notified should be collated and anonymised before submission to the NBS screening programme. Transient hypothyroidism: Approximately 10% of babies diagnosed with primary CHT have a transient abnormality that resolves by the time the baby is around 2 to 3 years. Congenital hypothyroidism occurs when a newborn infant is born without the ability to make normal amounts of thyroid hormone. If these signs and symptoms are present, they may include feeding difficulties, sleepiness, constipation and jaundice (the skin may look yellow). 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. Diagnostic testing conducted to confirm a case from newborn screening may provide additional information on recurrence. Does the routine NBS sample result indicate that CHT is suspected? 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. It needs to be performed frequently enough to permit referral of screen positive results within 2 to 4 working days of sample receipt. Is the TSH equal to or greater than 20.0 mU/L WB mean? When a baby is born with abnormally low thyroid function, known as congenital hypothyroidism (CH), parents are understandably worried. At least 72 hours is recommended, as for other screening tests, to allow pre-transfusion levels to be reached. Dyshormonogenesis: this is when there is an enzyme defect affecting thyroid hormone release. Take the ‘CHT preterm’ repeat sample on Day 28 or on discharge home (whichever is sooner). This is due to the presence of some maternal thyroid hormone or residual thyroid function. Nevertheless, these samples should be analysed and reported to avoid any potential delays. Is the TSH equal to or greater than the action cut-off of 8.0 mU/L WB mean? In all types of congenital hypothyroidism, the thyroid does not make enough of certain hormones that the body needs. The majority of thyroid dysgenesis cases do not have an identifiable genetic cause(Peters et al, 2018). Evidence-based information on congenital hypothyroidism in newborn from hundreds of trustworthy sources for health and social care. The explanation to be given to parents is that another sample is needed to confirm the result (either positive or negative). Female patients need to be aware that an increased dose of thyroxine is typically needed during pregnancy to ensure that the foetus receives an adequate supply of thyroid hormone across the placenta. 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. We do not recommend ‘early’ screening for siblings (prior to day 5, counting day of birth as day 0). This accounts for approximately 10% of all CHT cases. Screening laboratories and CHRDs/CHISs should use the national status codes and subcodes to record the outcomes of NBS screening. There are 2 types of permanent primary CHT: dysgenesis and dyshormonogenesis. This publication is licensed under the terms of the Open Government Licence v3.0 except where otherwise stated. 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. The analytical cut-off (6.0 mU/L WB) is set below the action cut-off (8.0mU/L WB) to allow for the natural variation in the TSH assay (the coefficient of variation = 10%) and to minimise the effect of volumetric variability that occurs in dried blood spots. In the UK, all babies are tested for congenital hypothyroidism soon after birth, using a tiny amount of blood taken from pricking their heel. The set of triplicate results should be reviewed for consistency, as poor analytical performance can produce different results. If the average of both results is ≥8.0 mU/L, then proceed as shown in the CHT screening protocol flowchart. The initial screening test, the assay of TSH, uses blood collected on the standard newborn screening blood sample collection card. Go to question 4. 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. Anticoagulants may affect the assay. Source: NHS Economic Evaluation Database - NHS EED (Add filter) 31 July 2006. Take the ‘CHT borderline’ repeat sample 7 to 10 days after the previous sample was taken. See below for a text description of the classification of CHT illustration. The objective of treatment is to normalise TSH as soon as possible. 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). A repeat sample must be requested as soon as possible on all samples received more than 14 days after collection. Take the NBS sample on Day 5 (day of birth is counted as Day 0) in line with the newborn blood spot screening 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. No: Request a ‘CHT preterm’ repeat sample. Hypothyroidism refers to an underactive thyroid gland. Several factors are known to lower TSH concentrations in babies with CHT, leading to a false negative screening results. If you have specific questions about how this relates to your child, please ask your doctor.Â, Great Ormond Street Hospital for Children NHS 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. Foundation Trust 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. 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. Any proposal to introduce new analytical methods needs careful collective consideration by the CHT screening advisory board and must meet the recommended specification. This handbook is for laboratories that provide a newborn blood spot (NBS) screening service for congenital hypothyroidism (CHT) in the UK. Blood spot sampling should be carried out according to the NBS screening sampling guidelines. 2. 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. Each laboratory should assess and regularly monitor their own precision data. This subsequent sample is assayed for TSH in duplicate (ideally from 2 different spots). 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. The sensitivity and specificity of the CHT screen are crucially dependent on the performance of the TSH assay. Please remember that it is extremely rare for serious hearing problems to occur as a result of congenital hypothyroidism. Iodine deficiency: Maintenance of thyroid function depends on the availability of dietary iodine. 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 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. Is the TSH equal to or greater than the action cut-off of 8.0 mU/L WB mean? This is about 1 to 2% of all babies (Moser et al, 2007). Search results Jump to search results. Go to question 5. If the single result is ≥8.0 then proceed as shown in the CHT screening protocol flowchart. 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. 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. Gain consent. 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. If the thyroid gland does not produce enough thyroxine, it causes hypothyroidism. This details the accountabilities for reporting, investigating and managing NHS screening programme safety incidents. However, a small proportion of children who have had severe hypothyroidism in the womb may have some difficulties later in life, like poor hearing, clumsiness or trouble with learning. Thyroid hormones are essential for normal childhood growth and development. Is the TSH equal to or greater than the analytical cut-off of 6.0 mU/L WB? Levels decrease slowly until 5 to 7 days of age (Fisher and Klein, 1981). 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. Venepuncture or venous/arterial sampling from an existing line is an alternative method to collect the blood spot sample. Go to question 5. It is recommended that other screening tests are not repeated on this specimen. It is often permanent with lifelong treatment. 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 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. Screening for CHTaims to detect infants who do not produce adequate Babies with congenital hypothyroidism need treatment with medicines that replace the hormones normally made by the thyroid. 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. Newborn … For parents with one child with this type of congenital hypothyroidism, the chance of having another baby who is affected is very low. It is more common in girls than boys, but at the moment we do not understand why. 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. Possible causes of false positives are listed below. 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 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. Widely discrepant results may require a repeat specimen, which should be requested and carried out as soon as possible. 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’. No: Request a ‘CHT borderline’ repeat sample. Laboratories should publish the results and performance of their NBS screening programme in an annual report. … 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. For the first couple of years, the child will need regular blood tests to check these levels. Objectives: This work aimed to characterize CH infants identified by the second … Ideally discs should be punched from different spots. Screening was already taking place in Scotland (since 1979) and Northern Ireland (since 1980). Screening can be declined for CHT, sickle cell disease and cystic fibrosis individually, but the 6 inherited metabolic diseases (IMDs) can only be declined as a group. Congenital hypothyroidism occurs sporadically and is not usually an inherited disorder. False positive cases included transient CHT and babies in whom CHT was excluded at the initial clinical referral. Compressed spots: When the blood sample has been taken, the blood spot must not be compressed. These achieve levels of precision (coefficient of variation) of approximately 7 to 10% at TSH concentrations of approximately 8 and 20 mU/L WB. Standards data should be submitted to the NBS screening programme on an annual basis. This type is inherited and so there is a risk that if parents have another child in the future they may have the same condition. If babies are moved to another hospital, responsibility for taking the CHT preterm repeat sample (if born at less than 32 weeks gestation) is transferred to the receiving hospital. 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). No: Request a ‘CHT borderline’ repeat sample. 3. congenital hypothyroidism, newborn screening, TSH, cutoff. Ideally, the reagents and instrumentation should be CE marked. The laboratory should refer babies with positive screening results for CHT the same or next working day following confirmation of a positive result. Context: Analysis of a 2-screen program for congenital hypothyroidism (CH) was performed using differential dried-blood spot thyrotropin (bTSH) cutoffs of 10 mU/L at first screening (all infants) and 5 mU/L at second screening (selected infants). Yes: Request a ‘CHT preterm’ repeat sample. We also use cookies set by other sites to help us deliver content from their services. 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’. ‘CHT not suspected’ results should be communicated to the parents by 6 weeks of age. 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. 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 referral notification should include a link to the CHT initial clinical referral guidelines. If this is the case, follow the steps as outlined below. End of pathway. In some babies this does not happen, which means that the gland cannot work properly. Clinical information should be requested from clinical referral centres on each presumptive positive case. To help us improve GOV.UK, we’d like to know more about your visit today. This should be taken 7 to 10 days after the previous sample was taken. The second dried blood spot specimen is for TSH testing only. 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. No: Request a ‘CHT borderline’ repeat sample. The medicine only needs to be given once a day. All babies across the UK are offered a blood test to identify CHT as part of the NBS screening programme. You can change your cookie settings at any time. 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. Data submissions must be accurate, timely and complete, to enable performance monitoring and programme evaluation. Multi-layering: The CHT screen requires a good quality blood spot for the TSH assay. It is difficult to predict whether any young child will grow up normally. It covers the management of: Screening for CHT was formally introduced as a national newborn screening programme in England and Wales in June 1981. See below for a text description of the CHT screening protocol flowchart. Samples taken when the baby is greater than 12 months and 14 days of age should not be analysed. 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. Yes: Re-test for TSH in duplicate from the same blood spot card, but using a different spot(s). Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The condition occurs in about 1 in 3,000-4,000 children, is most often permanent and treatment is lifelong. Great Ormond Street There may be a spuriously high result if the blood spot is layered. Complete the blood spot card to indicate which conditions have been accepted or declined, as outlined in the NBS screening sampling guidelines. Congenital hypothyroidism is a disorder affecting the thyroid gland, which is in the neck. When a preterm baby (born at <32 weeks gestation) has had a ‘CHT not suspected’ screening result on the first sample. Laboratories undertaking NBS screening must be accredited in accordance with ISO 15189 for Medical Testing Laboratories by a competent accreditation testing service, for example, by the United Kingdom Accreditation Service (UKAS). 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. 3. No further action required. Reports of all screening results should have a generic disclaimer saying: ‘These tests are screening tests. TSH analysis should be carried out on a single spot from the initial dried blood sample. Testing should be performed before discharge or within 7 days of birth. This is the rationale for the repeat testing strategy described in the earlier sections on general organisation and the preterm repeat policy. The flowchart below describes the preterm repeat algorithm for CHT. The annual data collection template is shared with the screening laboratories via email each year, with instructions for completion and submission. Physiological evidence suggests that 28 days is the postnatal age by which maturation of thyroid function has occurred in most very preterm infants.

Electricity Bill Online Payment, Benefits Of Communication Tools, Soccer Las Vegas, What Do Calcitonin Levels Indicate, Lodge Real Estate Hamilton Open Homes, Leviton Slide Dimmer Switch Wiring, Would You Like Me Too Or To, Aritzia Boyfriend Jogger, Best Acl Surgeon In Hyderabad, Map Of The Soul Versions, Mescalero People Also Search For,