Screening Program For Congenital Hypothyroidism Research Articles

7593 Early re-evaluation using levothyroxine dose requirements in infancy in patients with congenital hypothyroidism

Abstract Disclosure: M. Yoo: None. E. Joo: None. S. Kim: None. J. Lee: None. Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in the neonatal period. CH can lead to permanent mental retardation if left untreated. The prevalence of CH has recently increased due to neonatal screening programs for CH. Congenital Hypothyroidism: The 2020-2021 Consensus Guidelines Update, recently published in the Endo-European Reference Network (Endo-ERN), suggested that a reevaluation of early treatment withdrawal after 6 months could be performed in patients with CH. In Korea, there has been no study on early reevaluation after 6 months, so we conducted this study. Methods: As a retrospective study, patients diagnosed with CH from January 2013 to December 2022 at the Department of Pediatrics, Inha University evaluated thyroid function tests (TFT) at the time of diagnosis and LT4 dose and body weight during treatment. Results: A total of 105 patients were diagnosed with CH, 64 were classified as transient CH (TCH) and 41 as permanent CH (PCH). Patients younger than 2 years who did not complete the reevaluation were excluded. At diagnosis, thyroid stimulating hormone (TSH) levels were higher in the PCH group than in the TCH group (47.8 ± 58.0 mIU/L vs 69.2 ± 94.1 mIU/L, respectively). At 6 months, 1 and 2 years, the mean dose of levothyroxine (μg/kg/day) was significantly lower in the TCH group than in the PCH group. (3.34 ± 0.94 vs 3.63 ± 1.03 μg/kg/day, p<0.05, 2.56 ± 0.95 vs 3.16 ± 1.14 μg/kg/day, p<0.01 and 2.07 ± 0.57 vs 3.01 ± 1.14 μg/kg/day, p<0.01). Based on the Receiver Operating Characteristic (ROC) curve, the optimal cutoff doses of LT4 for prediction of TCH at 6 month was 3.24 µg/kg/day (area under the curve=0.643; 95% CI, 0.529-0.757; sensitivity, 58.6%; specificity, 70.3%) Conclusion: Early re-evaluation after 6 month for withdrawal of LT4 treatment is possible in patients with CH if the patient has gland in situ, no family history, and low LT4 dose requirements. Presentation: 6/1/2024

Paediatric thyroid disease.

The spectrum of thyroid disorders presenting to paediatricians is different to that seen by adult physicians. Referrals reflect cases detected by the neonatal screening programme for congenital hypothyroidism and many of the inherited defects of thyroid hormone generation or action will be manifest in early life. Autoimmune thyroid disease can be particularly challenging to manage in the young and the potential impact of thyroid status on neurodevelopment and schooling are key considerations throughout childhood and adolescence.

When bones deceive: Beyond skeletal dysplasia

Congenital hypothyroidism results from a partial or complete loss of thyroid function. It is the most common treatable cause of mental retardation. Thyroid hormone facilitates the growth and development of the skeleton through its direct effects on chondrocyte proliferation and differentiation and its permissive effects on the growth hormone. Due to the congenital hypothyroidism screening programs, congenital hypothyroidism is rare, and hence, other differential diagnoses are often considered in children presenting later in life with short stature and coarse facies such as storage disorders, genetic disorders, and skeletal dysplasia. This article aims to assess and discuss the value of radiology, especially plain radiography and ultrasonography in the diagnosis of congenital hypothyroidism and prevent long-term mental retardation and neurological dysfunction.

Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?

Thyroid hormone (TH) is indispensable for brain development in utero and during the first two to three years of life, and the negative effects of TH deficiency on brain development are irreversible. Detection of TH deficiency early in life by neonatal screening allows early treatment, thereby preventing brain damage. Inborn shortage of TH, also named congenital hypothyroidism (CH), can be the result of defective thyroid gland development or TH synthesis (primary or thyroidal CH (CH-T)). Primary CH is characterized by low blood TH and elevated thyroid-stimulating hormone (TSH) concentrations. Less frequently, CH is due to insufficient stimulation of the thyroid gland because of disturbed hypothalamic or pituitary function (central CH). Central CH is characterised by low TH concentrations while TSH is normal, low or slightly elevated. Most newborn screening (NBS) programs for CH are primarily TSH-based thereby do not detect central CH. Only a few NBS programs worldwide aim to detect both forms of CH by different strategies. In the Netherlands, we have a unique T4-TSH-thyroxine-binding globulin (TBG) NBS algorithm for CH which enables detection of primary and central CH. Although the necessity of central CH detection by NBS is still under debate, it has been shown that most central CH patients have moderate-to-severe hypothyroidism instead of mild, and that early detection of central CH by NBS problably improves its clinical outcome and clinical care for central CH patients with multiple pituitary hormone deficiency. We are therefore convinced that detection of central CH by NBS is of utmost importance.

A Detailed Analysis of the Various Perinatal Factors Influencing Neonatal TSH: Results from a 6 Months Congenital Hypothyroidism Screening Program.

Abstract Background: The aims of this study are to analyse various perinatal factors influencing neonatal cord blood thyroid stimulating hormone (TSH) level and to find out incidence of congenital hypothyroidism in neonates. Material and Methods: A total of 800 newborns whose mother not having any thyroid medications during her pregnancy period were enrolled for the study. Cord blood samples of the neonates were collected for estimation of TSH level at the Laboratory Services of GMERS Medical College, Junagadh. TSH levels above 20mIU/L were considered as having congenital hypothyroidism. The data were compared with other similar international as well as national studies. Result: In present study, there was no significant difference in cord blood TSH level when compared for various mode of delivery of newborn, as well as according to birth weight and gender of newborn. There was a statistically significant higher mean cord blood TSH level in newborns whose mother had a history of pregnancy induced hypertension (PIH). One newborn was found to have congenital hypothyroidism. Conclusions: It was evident from the present study that newborns whose mother having history of PIH had significantly higher cord blood TSH level. Though incidence of congenital hypothyroidism was rare, routine congenital hypothyroidism screening program was advisable. Keywords: Congenital hypothyroidism, TSH, PIH, Cord blood TSH.

Neonatal screening for congenital hypothyroidism (CH) in preterm infants. Is a targeted strategy required?

Premature infants are at higher risk of developing congenital hypothyroidism (CH) but the neonatal screening strategy for this population is still debatable. The purpose of this retrospective study is to describe the results of a screening program for CH in a preterm infant cohort. All preterm newborns who underwent neonatal screening in the Italian region of Piedmont in the period January 2019 - December 2021, were included in this retrospective cohort study. The first TSH measurement was performed at 72h, while the second at 15 days of life. Infants with TSH >20 mUI/l at first detection and >6 mUI/l at second were recalled for a full evaluation of thyroid function. During the study period, 5930 preterm newborns were screened. Based on birth weight (BW), the mean TSH was 2.08±0.15 for BW<1000 g, 2.01±0.02 for BW 1001-1500 g, 2.28±0.03 for BW 1501-2499 g and 2.41±0.03 mUI/l in normal-weight newborns (p<0.005) at the first detection, with a significant difference observed at the second measurement (p<0.005). Based on gestational age, the mean TSH at first detection was 1.71±0.09 mUI/l for extremely preterm babies and 1.87±0.06, 1.94±0.05 and 2.42±0.02 mUI/l for very preterm, moderately, and late preterm infants (p<0.005), respectively. Significant between-group differences of TSH measurements were also at the second and third detections (p < 0.005 and p = 0.01). The 99% reference range in this cohort overlapped with the recommended TSH cut-offs for screening recall (8 mUI/l for first detection and 6 mUI/l for second detection). CH incidence was 1:156.Of the 38 patients diagnosed with CH, a eutopic gland was present in 30 (87.9%), with CH transient in 29 (76.8%). We observed no significant difference in the recall rate between preterm and at term infants screened in this study. Our current screening strategy therefore appears effective in avoiding misdiagnosis. CH screening approaches vary among countries. Development and testing of a uniform multinational screening strategy is needed.

Frequency of Congenital Hypothyroidism in Newborn at Tertiary Care Hospital in Quetta

Objective: To determine the frequency of congenital hypothyroidism (CH) in newborn at tertiary care hospital in Quetta, Pakistan. Study design: Cross-sectional study. Place and Duration: The Department of Paediatrics, Unit-II, Bolan Medical College Hospital, Quetta, Pakistan from January 2022 to June 2022. Methodology: Neonates of both genders born with birth weight above 1500 grams having gestational age above 28 weeks, presenting between 3 to 5 days following birth were analyzed. At the time of enrollment, demographic characteristics of the neonates were noted and screening of CH was done. The CH was labeled as serum TSH ≥ 20mU/ml and T4 &lt; 9 pmol/l. Results: During the study period, a total of 383 neonates as per inclusion/exclusion criteria were analyzed. There were 239 (62.4%) boys and 144 (37.6%) girls. The mean age was 3.87+0.843 days. The mean TSH level was 12.807+5.11 mU/ml (ranging 7 to 50 mU/ml). We noted that CH was found in 10 neonates (2.6%). Practical Implications: The reported frequency of CH seems higher as compared to contemporary literature which raises the importance of CH screening programs at national level. Conclusion: The frequency of congenital hypothyroidism was 2.6% among newborns at a tertiary care hospital of Quetta, Pakistan. Keywords: Congenital hypothyroidism, newborn, thyroid-stimulating hormone.

Cost-Effectiveness of Newborn Screening for Phenylketonuria and Congenital Hypothyroidism

To evaluate the long-term costs and health effects of the Swedish newborn screening program for classic phenylketonuria (PKU) alone and in combination with congenital hypothyroidism compared with no screening. A decision-analytic model was developed to estimate and compare the long-term (80years) costs and health effects of newborn screening for PKU and congenital hypothyroidism. Data were obtained from the literature and translated to Swedish conditions. A societal perspective was taken, including costs falling on health care providers, municipal care and services, as well as production loss due to morbidity. Screening 100 000 newborns for PKU resulted in 73 gained quality-adjusted life-years (QALYs) compared with no screening. When adding congenital hypothyroidism, the number of gained QALYs was 232 compared with PKU alone, adding up to a total of 305 QALYs gained. Corresponding cost estimates were $80.8, $70.3, and $10.05 million USD for no screening, PKU screening, and PKU plus congenital hypothyroidism screening, respectively, indicating that screening for PKU plus congenital hypothyroidism was more effective and less costly compared with the other strategies. The majority of cost savings with PKU plus congenital hypothyroidism screening was due to reductions in productivity losses and municipal care and services costs. The Swedish newborn screening program for PKU and congenital hypothyroidism saves substantial costs for society while generating additional QALYs, emphasizing the importance of public investments in early diagnosis and treatment.

ODP459 Adiposity Rebound in Japanese Patients with Congenital Hypothyroidism Detected by Neonatal Screening

Abstract Background More than 40 years have passed since the introduction of newborn screening programs (NBS) for congenital hypothyroidism (CH), and there have been many reports on the long-term outcome of CH identified by NBS. There are some reports that CH is associated with early adiposity rebound and adult obesity. On the other hand, the association between AR and CH has not been revealed in Japan. Objective The aim of this study was to evaluate the timing of AR in individuals with CH detected by NBS in our institution, furthermore, to find out the risk factors of early AR in CH individuals. Patients and Methods The study included 212 CH children (105 female/107 males) who were ten years of age or older as of September 2021. We retrospectively collected height and weight data from one to ten years of age, and the timing of AR was visually determined. We examined the association between the AR age and the severity of hypothyroidism at NBS and at the first visit. Results The median AR age was 5.6 years for boys and 6.2 years for girls, which was unexpectedly not unexpectedly younger than that of the general Japanese population reported by Koyama (4.8 ± 1.4 years for boys, 4.7 ± 1.5 years for girls). Data from 115 patients (107 males, 105 females) whose physique data between the age of 15 and 18 were available showed that body mass index (BMI) was 21.1±3.2 kg/m2 for males and 20.6±2.7 kg/m2 for females, positively correlated with AR age, and not significantly different from BMI at 15-19 years of age (21.1±3.6 for males and 20.2±2.2 for females) in the 2019 National Nutrition and Health Survey (p=0.790, p=0.619). NBS-FT4 was slightly positively correlated to AR age (r=0.234, p=0. 0315). We found that the AR age may be earlier and adult BMI may be higher in CH patients without ossification of the distal femoral epiphyseal nucleus at first evaluation. Discussion Severe fetal hypothyroidism may cause an absence of mineralization of the distal femoral epiphyses in the neonatal period. Our results indicate that severe fetal hypothyroidism, even if diagnosed and treated at neonatal, contributes to the development of adult obesity. Conclusion The AR age and BMI at 15-18 years of CH are not significantly different from the general population. However, severe fetal hypothyroidism could result in adult obesity. Presentation: No date and time listed

The incidence of congenital hypothyroidism in neonates born in Chaharmahal and Bakhtiari province from 2015 to 2021; A cross-sectional study

Introduction: Congenital hypothyroidism (CH) is one of the most common endocrine and metabolic disorders and a common preventable cause of mental retardation across the world. This disorder can be prevented if diagnosed and treated before the age of four weeks. Objectives: This study was performed to investigate the incidence rate of CH in infants in Chaharmahal and Bakhtiari province. Patients and Methods: The data of this study were obtained by the CH screening program from 2015 to 2021 in the health deputy of Chaharmahal and Bakhtiari province. Results: A total of 651 patients were diagnosed with CH, which showed an incidence rate of 5.06 per 1000 births (1 per 198 live births) in the province. The highest incidence of the disease was obtained in 2016 and the lowest incidence in 2021. Lordegan city had the highest incidence rate (8.1 per 1000 live births) and Kiar had the lowest one (1.67 per 1000 live births) during the study period. Moreover, the highest and lowest incidence rates in terms of season were observed in winter and summer, respectively. Conclusion: It can be concluded that Chaharmahal and Bakhtiari province, especially Lordegan, is one of the regions with high prevalence of CH in Iran, therefore the incidence rate is not only higher than the national average but also higher than the global average. Hence, the potential causes of this observation deserve further investigation.

ESTABLISHING A NATIONWIDE NEWBORN SCREENING PROGRAM FOR CONGENITAL HYPOTHYROIDISM: A SYSTEMATIC REVIEW

Objective: The congenital hypothyroidism (CH) is a treatable hormonal disease that if left untreated in neonates, results in irreversible mental retardation. Newborn screening for CH and thyroid hormone replacement therapy started within two weeks of age can control cognitive development. This study aimed to estimate CH incidence in Pakistani population. Material and Methods: Electronic databases and the bibliography of articles were searched, and a systematic review of publications reporting the incidence of CH in Pakistan was carried out. The studies fulfilling the following criteria were analyzed: retrospective and prospective studies, adult population; pediatric population; Thyroid Stimulating Hormone (TSH); Dried Blood Spot (DBS); serum testing quantitative; English language. Results: We identified nine studies that narrated the incidence of CH in our country. According to this systematic review, the maximum estimated incidence of CH was 1:1600 reported for Pakistani population. Compared to the incidence of CH from other parts of the world (1:2000-1:4000), incidence from Pakistan is high. Conclusion: According to these findings, this high incidence highlights the need for a National Newborn Screening (NBS) program for CH. We have proposed a strategy for establishing a nationwide NBS program for CH. Key Words: Newborn screening, Congenital hypothyroidism, Pakistan, Thyroid-stimulating hormone, Mental retardation

Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience.

Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nervous system. However, overtreatment may have a potential negative impact on further neurodevelopment. We retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021. We evaluated the diagnostic process and treatment up to the age of 3 years. We compared groups of children from the first and the second screening groups (FSG, SSG) in the neonatal screening with an evaluation of ultrasound examination (thyroid dysgenesis vs. gland in situ, GIS). The overtreatment and undertreatment risks were assessed and an analysis of the new TSH thresholds was performed. Treatment was implemented at a median of 9 days of life (3 – 27); 8 days (3 – 17) in FSG and 19 (6 – 27) in SSG. The dose of L-T4 differed between FSG and SSG at all three analysed time points (start of the therapy, 12 months, and 3 years) with significantly higher doses in FSG. The same was observed for the patients with thyroid dysgenesis vs. GIS. Screening TSH level was ≥ 28mIU/l in 91.7% of patients with thyroid dysgenesis in comparison to 74.0% of patients with GIS (p= 0.038). The optimally treated group (fT4 in the upper half of the reference range, according to the guidelines) was up to 58.0% of the children during the follow-up. The risk for overtreatment was present in 1/5 of the study group after 12 months and 1/4 after 3 years of L-T4 therapy. Analysis of new TSH thresholds showed an increased prevalence of mild hypothyroidism, GIS, and either euthyroid state or overtreatment while treating with lower L-T4 doses in comparison to the rest of the cohort. The study confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy. The suspected overtreatment after the first 12 months of L-T4 therapy requires consideration of the earlier diagnosis re-evaluation.

The Role of Thyroid Scintigraphy in Infants with Congenital Hypothyroidism: Our Experience at Royal Hospital, Oman

Objectives: The early diagnosis and treatment of congenital hypothyroidism is critical, to avoid detrimental outcomes such as mental retardation. Thyroid stimulating hormone (TSH) level is the usual diagnostic screening test; however, thyroid scintigraphy helps identify etiologies of the disease there by determining different management plans. The aim of this descriptive retrospective study is to evaluate thyroid scintigraphy findings in newborns and children with biochemical evidence of congenital hypothyroid and to assess the impact of thyroid scintigraphy findings on the long-term management of those patients. Methods: Retrospective review of 101 infants with congenital hypothyroidism (CH) who were initially diagnosed biochemically, and then underwent thyroid scintigraphy, between 2010 and 2015 at a tertiary hospital in Oman. Patients’ data was collected from the hospitals’ database and then analyzed using statistical package for social sciences (SPSS). Results: 8.9 % (9/101) patients had the thyroid scintigraphy up to 7 days of life, whereas 91.1% (92/101), were performed after the age of 3 years. The performed scintigraphy revealed five different findings which included dyshormonogenesis, ectopia, agenesis, reduced and normal % of Tc-99m pertechnetate uptake in the thyroid gland. The most common cause of congenital hypothyroidism in this cohort was ectopic sublingual thyroid, 32.6% (33/101), and the ratio of female to male was 1.29:1, in keeping with international figures. However, in this cohort the Dyshormonogenesis was the cause of congenital hypothyroid in 29.7% (30/101) patients, which is higher than that known internationally and can be probably attributed to the high rate of consanguineous marriage in the country. 39.6% (40/101) patients required alteration in management (increase or decrease thyroid hormone dosage, start, or discontinue the treatment) based of thyroid scintigraphy, US and serial TFT. There was a statistical significance (p-value= 0.000) between scan findings and the need to change the treatment plan following the scan. Conclusion: Thyroid scintigraphy is an essential part of screening program for congenital hypothyroidism and useful in differentiating the causes of congenital hypothyroidism thus essential for proper management plans. We, therefore, highly advise to increase the awareness of early utilization of thyroid scintigraphy in congenital hypothyroidism screening.

Implementing the six sigma model on the treatment of congenital hypothyroidism: An analytical hierarchy process.

Background: Congenital hypothyroidism is a disease able to cause severe mental retardation and developmental delays. However, timely diagnosis and treatment of infants with this disease could prevent relevant complications. This study aims to investigate the effects of the implementation of the Six Sigma model on reducing the treatment initiation time in infants with congenital hypothyroidism in the population chosen from Samen Health Center in Mashhad. Methods: In this quasi-experimental study, the referral process of infants for congenital hypothyroidism screening and treatment was evaluated for the time period starting from March 20, 2017, to March 19, 2018, using the standard five-phase quality strategy, description, measurement, analysis, improvement and control phase (DMAIC), based on Six Sigma. Data were collected using the sampling form of the national screening program for congenital hypothyroidism. To analyze the data, software including Expert Choice V11, Microsoft Excel 2013, and SPSS 18, were utilized. In addition, a p-value less than 0.05 was considered statistically significant. Results: The number of infants who entered the intervention process was 4,574, of whom 51.3% (2346 infants) were boys. The mean time to start treatment before the implementation of the model was 21.72±7.72 days, which decreased to 17.41±6.47 days after the implementation of the model (p≤ 0.05). Besides, 81.8% of the patients received treatment during infancy before the intervention, which increased to 94.1% after it. After the implementation of the Six Sigma model, the Sigma level of treatment initiation improved from 2.41 to 3.06. Conclusion: Six Sigma could be used as an intervention tool for improving indices of health intervention processes.

Forty years' experience of national screening programme for congenital hypothyroidism in Northern Ireland.

Forty years' experience of national screening programme for congenital hypothyroidism in Northern Ireland.

Spatial Distribution of Congenital Hypothyroidism.

This study was designed and conducted to investigate the spatial distribution of permanent and temporary congenital hyperthyroidism (PCH and TCH) in Isfahan. This study was conducted on neonates who were born from March 21, 2006 to March 20, 2011 and had undergone the congenital hypothyroidism (CH) screening program in counties affiliated to the Isfahan University of Medical Sciences. CH was diagnosed in 958 patients who treated with levothyroxine. The incidence rates of permanent and temporary congenital hypothyroidism in Isfahan province were calculated and their distribution was shown on the map. The space maps were drawn using the ArcGIS software version 9.3. Based on the data obtained from the screening program, the average incidence of congenital hypothyroidism in the province during the period of 2006-2011 was 2.40 infants per 1000 live births (including both PCH and TCH). The most common occurrence was in Ardestan County (10:1000) and the lowest overall incidence was observed in the Fereydounshahr county (1.39:1000). The incidence of PCH in the counties of Ardestan and Golpayegan had the highest rate in all years of study; and the greatest number of TCH cases in the five years were observed in Nain, Natanz, Khansar and Chadegan counties. Adding the time dimension and performing spatial-temporal analysis is suggested because of the following items: high prevalence of CH in Isfahan province, the important role of this disease in mental retardation and neuropsychiatric disorder, the necessity of conducting future medical researches to find possible factors of CH etiology in Isfahan province, as well as necessity of performing spatial analysis with advanced statistical methods.

Effectiveness of neonatal screening for congenital hypothyroidism

Introduction: Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. Newborn screening program considerably increases probability of CH diagnosis and treatment. Objectives: We aimed to investigate the efficacy of running CH screening program to maintain normal IQ and physical growth of hypothyroid children in Semnan city. Patients and Methods: This study was performed on children with definite CH who were treated and followed up in Semnan health centers. Around 41 children born within 2008-2013 (minimum three years of age) participated. Respective weight and height for age were measured. The Z-scores were calculated based on the WHO-Anthro-Anthro Plus Software. Intelligence Quotient (IQ) was measured with Wechsler Intelligence Score for children-revised (WISC-R). Data analyzed with one-tailed t test compared with age and gender-matched group. Results: The mean IQ Score in our study group was 90.09 (1.73) with no significant difference compared to healthy counterparts (P &gt; 0.05). Z-score for weight and height was -0.46 and -0.45 prospectively and was not significantly different from normal children. Conclusion: Newborn screening program for CH has been effective in preventing mental retardation and growth failure.

Newborn Screening for Congenital Hypothyroidism in Japan.

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.

First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia.

Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Energy Agency (IAEA) for the Asia Pacific Region. In our present study, a total of 23,002 newborns from nine districts in Ulaanbaatar were screened between 2012 and 2020, by the measurement of the thyroid-stimulating hormone (TSH) from dried blood spots, sampled 24 to 72 h after birth. The level of TSH was measured by the DELFIA assay. The overall CH prevalence confirmed at birth was 1/2091. The female-to-male ratio for CH cases was 1.8:1. The majority of patients were asymptomatic (72.7% of CH cases); umbilical hernia and cold or mottled skin were reported symptoms in patients with CH (27.3%). Thyroid dysgenesis (hypoplasia and agenesis) was the most common etiology, with a total of nine cases (81.8%) out of the eleven patients. The lapse between the birth date and the initiation of L-thyroxine treatment in CH-positive children was lower than 15 days in 63.64% of cases or 15 to 30 days in 36.36% of children. Further research is required to expand the screening coverage for CH in Mongolia.

Cost-Effective Analysis of the Congenital Hypothyroidism Screening Program in Sri Lanka

IntroductionEconomic evaluations will determine policy decisions on any screening programs as estimates of short-term or long-term clinical and economic outcomes are analyzed through a systematic approach. This cost-effectiveness analysis was aimed to assess newborn screening for congenital hypothroidism (CH) in Sri Lanka as a important tool to allocate funds and make decisions on feasibility of new interventions with budget constraint in healthcare costs. MethodsThe newborn screening database was retrospectively analyzed to assess key performance indicators of the program. Program cost included capital investment, sampling, forms, analytical cost, follow–up, and confirmatory costs. Treatments and management care were calculated up to the age of 75 years excluding other cost to the family for support. Total benefits to the society and disability-adjusted life-years are calculated for each year. ResultsDuring 2019, 159 559 newborns underwent screening with over 92% coverage while 126 babies of 192 screening positive babies were confirmed as having the disease. The annual incidence of hypothyroidism was 1 in 1266 live births among the screened population. The positive predictive value of the program was 66% with a false-positive rate of <0.04% among those screened. The benefit-to-cost ratio was 3.60 with total cost of the program 98 924 300LKR with total benefit of 356 553 781LKR in 2019. ConclusionThe CH screening program proved its effectiveness in both timely detecting at-risk babies as well as being appropriately effective in economic impact to society. The improved health outcomes are of utmost importance considering screening expansions and policy decisions.