Screening for congenital hypothyroidism: A worldwide view of strategies

Ford, George; LaFranchi, Stephen H.

doi:10.1016/j.beem.2013.05.008

Cited by 274Thyroid Disorders and TreatmentsMetabolism and Genetic DisordersGenomics and Rare Diseases

Screening for congenital hypothyroidism: A worldwide view of strategies

Ford, George, LaFranchi, Stephen H.·2014·Best Practice & Research Clinical Endocrinology & Metabolism

DOI 10.1016/j.beem.2013.05.008

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Abstract

Detection by newborn screening (NBS) and treatment of babies with congenital hypothyroidism (CH) has largely eliminated the intellectual disability caused by this disorder. Lowering of the screening TSH cutoff and changes in birth demographics have been associated with an approximate doubling of the incidence of CH, from 1:3500 to 1:1714. The additional cases detected by lowering of the TSH cutoff tend to have milder hypothyroidism, with imaging often demonstrating a eutopic, "gland in-situ", and some cases turn out to have transient CH. Based on our search for current screening programs, approximately 71 percent of babies worldwide are not born in an area with an established NBS program, despite the existence of screening for over five decades in developed countries. Thus, the majority of babies with CH worldwide are not detected and treated early, such that the economic burden of retardation owing to CH remains a significant public health challenge.

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Delayed treatment in congenital hypothyroidism can lead to permanent brain damage.
“Delayed treatment in congenital hypothyroidism can lead to permanent brain damage.”
From Risks of suboptimal and excessive thyroid hormone replacement across ages (2023) · cites this paper as [19]
Children still develop cretinism because of lack of access to neonatal TSH screening.
“Therefore, children still develop cretinism [19].”
From Risks of suboptimal and excessive thyroid hormone replacement across ages (2023) · cites this paper as [19]
Approximately 70% of the world's population does not have access to neonatal TSH screening.
“However, despite the available dried blood spots technology since the early 1970s, approximately 70% of the world’s population does not have access to it.”
From Risks of suboptimal and excessive thyroid hormone replacement across ages (2023) · cites this paper as [19]
70% of infants worldwide are born in areas that do not have access to neonatal screening.
“Despite the benefits of neonatal screening, 70% of infants worldwide are born in areas that do not have access to neonatal screening (6).”
From Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology (2021) · cites this paper as [6]
Many infants born in areas without access to neonatal screening are born in areas of endemic iodine deficiency, placing them at increased risk of thyroid hormone deficiency.
“In addition, many of these infants are born in areas of endemic iodine deficiency, placing them at increased risk of TH deficiency.”
From Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology (2021) · cites this paper as [6]

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Background
Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis
Barry, Y., Bonaldi, C., Goulet, V., Coutant, R., Léger, J., Paty, A.-C., Delmas, D., Cheillan, D., & Roussey, M. (2016) · Annals of Epidemiology · doi:10.1016/j.annepidem.2015.11.005 · Cited by 86 · see citing works
Congenital Hypothyroidism: Screening and Management
Rose, S. R., Wassner, A. J., Wintergerst, K. A., Jones, N. Y., Hopkin, R. J., Chuang, J., Smith, J. R., Abell, K. B., LAFRANCHI, S. H., Wintergerst, K. A., et al. (2022) · PEDIATRICS · doi:10.1542/peds.2022-060420 · Cited by 88 · see citing works
Self-citation
Transient hypothyroidism in the newborn: to treat or not to treat
Kanike, N., Davis, A. O., & Shekhawat, P. (2017) · Translational Pediatrics · doi:10.21037/tp.2017.09.07 · Cited by 74 · see citing works
“The goal of NBS is to detect neonates with primary CH; those programs that employ a primary T4-reflex TSH or combined T4 and TSH tests strategy have the potential to detect infants with secondary CH (estimated incidence about 1:25,000) (49).”
Background
Liquid and softgel levothyroxine use in clinical practice: state of the art
Virili, C., Trimboli, P., Romanelli, F., & Centanni, M. (2016) · Endocrine · doi:10.1007/s12020-016-1035-1 · Cited by 71 · see citing works
Congenital Hypothyroidism: Screening and Management
Rose, S. R., Wassner, A. J., Wintergerst, K. A., Jones, N. Y., Hopkin, R. J., Chuang, J., Smith, J. R., Abell, K. B., LAFRANCHI, S. H., Wintergerst, K. A., et al. (2022) · PEDIATRICS · doi:10.1542/peds.2022-060419 · Cited by 69 · see citing works
Self-citation
Diagnosis and Management of Central Congenital Hypothyroidism
Lauffer, P., Zwaveling‐Soonawala, N., Naafs, J. C., Boelen, A., & van Trotsenburg, A. S. P. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.686317 · Cited by 75 · see citing works
Update on congenital hypothyroidism
Cherella, C. E., & Wassner, A. J. (2020) · Current Opinion in Endocrinology, Diabetes & Obesity · doi:10.1097/med.0000000000000520 · Cited by 61 · see citing works
“Most newborn screening programs worldwide employ a primary-TSH screening strategy that does not detect central hypothyroidism [25].”
Background
Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening
Kaluarachchi, D. C., Allen, D. B., Eickhoff, J. C., Dawe, S. J., & Baker, M. W. (2018) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2018.11.044 · Cited by 61 · see citing works
Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) – Part I: Screening and Confirmation of Diagnosis
Desai, M. P., Sharma, R., Riaz, I., Sudhanshu, S., Parikh, R., & Bhatia, V. (2018) · The Indian Journal of Pediatrics · doi:10.1007/s12098-017-2575-y · Cited by 60 · see citing works
“It also fails to detect cases of central CH; however, detection of this rare disorder is not the target of mass NBS [23].”
Background
Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables
Oron, T., Lazar, L., Ben-Yishai, S., Tenenbaum, A., Yackobovitch-Gavan, M., Meyerovitch, J., Phillip, M., & Lebenthal, Y. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00362 · Cited by 54 · see citing works
“Historically, most cases of CH were presumed to be due to thyroid dysgenesis (agenesis or an ectopic gland) (1, 2).”
Background
Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course
Kara, C., Günindi, F., Can Yılmaz, G., & Aydın, M. (2016) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.2345 · Cited by 53 · see citing works
“Many developed countries have largely eliminated intellectual disability caused by CH owing to newborn screening programs (NSPs) (1).”
Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA
Ford, G. A., Denniston, S., Sesser, D., Skeels, M. R., & LaFranchi, S. H. (2016) · Hormone Research in Paediatrics · doi:10.1159/000448658 · Cited by 49 · see citing works
Self-citation
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations
Tuli, G., Munarin, J., Tessaris, D., Matarazzo, P., Einaudi, S., & SANCTIS, L. D. (2020) · Endocrine · doi:10.1007/s12020-020-02370-w · Cited by 43 · see citing works
Thyroid-Stimulating Hormone Reference Ranges for Preterm Infants
Kaluarachchi, D. C., Allen, D. B., Eickhoff, J. C., Dawe, S. J., & Baker, M. W. (2019) · PEDIATRICS · doi:10.1542/peds.2019-0290 · Cited by 43 · see citing works
“Congenital hypothyroidism is 1 of the most commonly diagnosed disease by NBS.1 Congenital hypothyroidism also is a core condition included in the recommended universal screening panel in the United States.2 Approximately 1400 infants in the United States are diagnosed with congenital hypothyroidism each year.3 NBS pro…”
Background
Consequences of undertreatment of hypothyroidism
Feldt‐Rasmussen, U., Effraimidis, G., Bliddal, S., & Klose, M. (2023) · Endocrine · doi:10.1007/s12020-023-03460-1 · Cited by 47 · see citing works
“However, despite this available technology since the early 1970s, ~70% of the World ’ s population does not have access to it, and therefore children still develop cretinism [18].”
Background
Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds
Knowles, R. L., Oerton, J., Cheetham, T. D., Butler, G. E., Cavanagh, C., Tetlow, L. J., & Dezateux, C. A. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00658 · Cited by 41 · see citing works
“As in our study, Ford and LaFranchi found that US newborns who were identified as presumptive positive CH on the first bloodspot were more likely to be girls and to have permanent CH than those whowere referred on a repeat test (17).”
Result
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
Blom, M., Zetterström, R. H., Stray‐Pedersen, A., Gilmour, K. C., Gennery, A. R., Puck, J. M., & van der Burg, M. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.08.026 · Cited by 38 · see citing works
Advanced Maternal Age, Mode of Delivery, and Thyroid Hormone Levels in Chinese Newborns
Fan, P., Luo, Z., Tang, N., Wang, W., Liu, Z., Zhang, J., & Ouyang, F. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00913 · Cited by 36 · see citing works
“Cord blood TSH was positively correlated to heel prick blood TSH level (55), which is commonly used in neonatal thyroid function screening (10).”
Background
Global prevalence of congenital hypothyroidism among neonates from 1969 to 2020: a systematic review and meta-analysis
Liu, L., He, W., Zhu, J., Deng, K., Tan, H., Xiang, L., Yuan, X., Li, Q., Huang, M., Guo, Y., et al. (2023) · European Journal of Pediatrics · doi:10.1007/s00431-023-04932-2 · Cited by 40 · see citing works
“Before 1980s, most NBS programs were based on the primary T4 assay [39].”
Background
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)
Nagasaki, K., Minamitani, K., Nakamura, A., Kobayashi, H., Numakura, C., Itoh, M., Mushimoto, Y., Fujikura, K., Fukushi, M., & Tajima, T. (2022) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.2022-0063 · Cited by 38 · see citing works
Identification of an IGSF1‐specific deletion in a five‐generation pedigree with X‐linked Central Hypothyroidism without macroorchidism
Hughes, J. N., Aubert, M. K., Heatlie, J. K., Gardner, A. E., Gécz, J., Morgan, T. M., Belsky, J. L., & Thomas, P. Q. (2016) · Clinical Endocrinology · doi:10.1111/cen.13094 · Cited by 31 · see citing works
Prevalence and Characterization of Thyroid Hemiagenesis in Japan: The Fukushima Health Management Survey
Suzuki, S., Midorikawa, S., Matsuzuka, T., Fukushima, T., Ito, Y., Shimura, H., Takahashi, H., Ohira, T., Ohtsuru, A., Abe, M., et al. (2017) · Thyroid · doi:10.1089/thy.2016.0662 · Cited by 31 · see citing works
“050% (9), and the reported prevalence of congenital hypothyroidism in Japan is 0.”
Background
Diagnosing and managing dementia patients. Practice patterns of family physicians.
Cheok, A., Cohen, C. A., & Sarracini, C. Z. (1997) · PubMed Central · Cited by 29 · see citing works
Feasibility of an Early Discontinuation of Thyroid Hormone Treatment in Very-Low-Birth-Weight Infants at Risk for Transient or Permanent Congenital Hypothyroidism
Jung, J. M., Jin, H. Y., & Chung, M. L. (2016) · Hormone Research in Paediatrics · doi:10.1159/000443399 · Cited by 28 · see citing works
Changes in the incidence and etiology of congenital hypothyroidism detected during 30 years of a screening program in central Serbia
Mitrović, K., Vuković, R., Milenković, T., Todorovic, S., Radivojcevic, J., & Zdravković, D. (2015) · European Journal of Pediatrics · doi:10.1007/s00431-015-2630-5 · Cited by 28 · see citing works
“On the other hand, several studies reported the detection of milder forms of hypothyroidism, in particular with a normally located thyroid gland, led to an increased incidence of CH [7].”
Background
Congenital hypothyroidism: Screening, diagnosis, management, and outcome
Ahmad, N., Irfan, A., & Saedi, S. A. (2017) · Journal of Clinical Neonatology · doi:10.4103/jcn.jcn_5_17 · Cited by 27 · see citing works
Thyroid hormone and the developing hypothalamus
Alkemade, A. (2015) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2015.00015 · Cited by 25 · see citing works
“Developmental TH deficiency impairs growth, and compromises adaptation to life outside the womb (Forhead et al., 1998; Hillman et al., 2012; Sferruzzi-Perri et al., 2013; Forhead and Fowden, 2014).”
Background
Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands
Stroek, K., Heijboer, A. C., Bouva, M. J., van der Ploeg, C. P. B., Heijnen, M. A., Weijman, G., Bosch, A. M., de Jonge, R., Schielen, P. C. J. I., van Trotsenburg, A. S. P., et al. (2020) · European Journal of Endocrinology · doi:10.1530/eje-19-1048 · Cited by 24 · see citing works
Risks of suboptimal and excessive thyroid hormone replacement across ages
Feldt-Rasmussen, U., Effraimidis, G., Bliddal, S., & Klose, M. (2023) · Journal of Endocrinological Investigation · doi:10.1007/s40618-023-02229-7 · Cited by 23 · see citing works
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
Rowe, A. D., Stoway, S. D., Åhlman, H., Arora, V., Caggana, M., Fornari, A., Hagar, A., Hall, P. L., Marquardt, G. C., Miller, B. J., et al. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7020023 · Cited by 26 · see citing works
Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward
Hettiarachchi, M., & Amarasena, S. (2014) · BMC Health Services Research · doi:10.1186/1472-6963-14-385 · Cited by 23 · see citing works
“In the Quebec, Lombardy, and New Zealand NBS programs, the incidence of more severe forms of thyroid dysgenesis were unchanged before and after the lowering of the TSH cutoff values [25].”
Background
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
Tanaka, T., Aoyama, K., Suzuki, A., Saitoh, S., & Mizuno, H. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0433 · Cited by 22 · see citing works
“CH is the most common infant endocrine disorder, occurring in 1:2,000–4,000 individuals [1], and is clinically classified as either transient or permanent.”
Background
Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan
Itonaga, T., Higuchi, S., Shimura, K., Nagasaki, K., Satoh, M., Takubo, N., Takahashi, I., Sawada, H., & Hasegawa, Y. (2019) · Hormone Research in Paediatrics · doi:10.1159/000502418 · Cited by 22 · see citing works
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings
Naafs, J. C., Marchal, J. P., Fliers, E., Verkerk, P. H., Luijten, M. A. J., Boelen, A., van Trotsenburg, A. S. P., & Zwaveling-Soonawala, N. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa901 · Cited by 21 · see citing works
“While it fulfills the criteria for disease screening, central CH is only rarely included in neonatal screening programs (4, 6).”
Background
Physical and mental growth and development in children with congenital hypothyroidism: a case–control study
Nazari, J., Jafari, K., Chegini, M., Maleki, A., Mirshafiei, P., Alimohammadi, A., Kazemzadeh, Y., Mikaeliyan, R., & Amini, S. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02017-7 · Cited by 21 · see citing works
“This indicates that there is no same protocol globally for this work [26].”
Background
Incidence of primary congenital hypothyroidism over 24 years in Finland
Danner, E., Niuro, L., Huopio, H., Niinikoski, H., Viikari, L. A., Kero, J. T., & Jääskeläinen, J. (2022) · Pediatric Research · doi:10.1038/s41390-022-02118-4 · Cited by 21 · see citing works
Newborn Screening TSH Values Less Than 15 mIU/L Are Not Associated With Long-term Hypothyroidism or Cognitive Impairment
West, R., Hong, J., Derraik, J. G. B., Webster, D., Heather, N. L., & Hofman, P. L. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa415 · Cited by 20 · see citing works
Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies
González, Y., de Abajo, G. H., & Martínez‐Morillo, E. (2020) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408363.2020.1781778 · Cited by 20 · see citing works
“Although the simultaneous fT4 and TSH strategy has the highest detection rate, adding up the sensitivity of both previous strategies and detecting more types of thyroid hormone disorders, its use is not widespread because it implies a high FP rate and an increased operating cost because of duplicated tests [88,89].”
Background
Geographic variations in the incidence of congenital hypothyroidism in China: a retrospective study based on 92 million newborns screened in 2013–2018
Yao, Y., Yuan, X., Zhu, J., Xiang, L., Li, Q., Deng, K., Li, X., & Liu, H. (2021) · Chinese Medical Journal · doi:10.1097/cm9.0000000000001613 · Cited by 20 · see citing works
“CH incidence is estimated at 1:2000 to 1:4000 newborns worldwide,([6]) and varies by geographic location, with higher incidence in Spain,([7]) Italy,([8]) and Greece,([9]) which are adjacent to the ocean, than that in landlocked countries, such as the Czech Republic and Bolivia.”
Background
Increased incidence of congenital hypothyroidism in China: An analysis of 119 million screened newborns
Yao, Y., Deng, K., Zhu, J., Xiang, L., Yuan, X., Qi Li, M. S. E., Liu, L., Guo, Y., 刘瀚旻, & Li, X. (2023) · European Journal of Pediatrics · doi:10.1007/s00431-023-05108-8 · Cited by 20 · see citing works
“Ford and LaFranchi [38] reviewed that lowering the TSH cutoff value from 20–25 mIU/L to 6–10 mIU/L has been associated with a 2.20-fold increase in the incidence of CH [28, 39, 40].”
BackgroundInfluential
TSH and FT4 concentrations in congenital central hypothyroidism and mild congenital thyroidal hypothyroidism
Zwaveling‐Soonawala, N., van Trotsenburg, A. S. P., & Verkerk, P. H. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-01577 · Cited by 20 · see citing works
Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start
Arrigoni, M., Zwaveling‐Soonawala, N., LAFRANCHI, S. H., van Trotsenburg, A. S. P., & Mooij, C. F. (2025) · European Thyroid Journal · doi:10.1530/etj-24-0327 · Cited by 19 · see citing works
“A substantial increase in coverage in the past ten years has been witnessed in Bolivia, Peru, Ecuador, Paraguay and Venezuela (6, 22).”
InfluentialSelf-citation
Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism
Heather, N. L., Hofman, P. L., de Hora, M. R., Carll, J., Derraik, J. G. B., & WEBSTER, D. R. (2016) · Clinical Endocrinology · doi:10.1111/cen.13250 · Cited by 19 · see citing works
Congenital Hypothyroidism: Role of Nuclear Medicine
Keller, I., Léger, J., Sergent-Alaoui, A., & de Labriolle-Vaylet, C. (2016) · Seminars in Nuclear Medicine · doi:10.1053/j.semnuclmed.2016.10.005 · Cited by 19 · see citing works
Epidemiology of Congenital Hypothyroidism
Olivieri, A. (2015) · Springer eBooks · doi:10.1007/978-3-319-19213-0_6 · Cited by 19 · see citing works
“Moreover, a recent epidemiological evaluation of the current status of screening programs for CH around the world estimated that approximately 71 % of babies worldwide are not born in an area with an established newborn screening program [ 43 ].”
Background
Gender disparities in screening for congenital hypothyroidism using thyroxine as a primary screen
DeMartino, L., McMahon, R., Caggana, M., & Tavakoli, N. P. (2018) · European Journal of Endocrinology · doi:10.1530/eje-18-0399 · Cited by 18 · see citing works
Hyperthyrotropinemia is common in preterm infants who are born small for gestational age
L., F. G., Gutiérrez, M., Leguizamón, L., & Fabres, J. G. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0461 · Cited by 18 · see citing works
Newborn screening for primary congenital hypothyroidism: past, present and future
L., F. G., Lain, S. J., & Olivieri, A. (2025) · European Thyroid Journal · doi:10.1530/etj-24-0358 · Cited by 18 · see citing works
A Success Story: Review of the Implementation and Achievements of the National Newborn Screening Program for Congenital Hypothyroidism in Iran
Yarahmadi, S., Azhang, N., Nikkhoo, B., & Rahmani, K. (2020) · Intern J Endocrinol Metab · doi:10.5812/ijem.99099 · Cited by 17 · see citing works
Congenital Hypothyroidism and the Deleterious Effects on Auditory Function and Language Skills: A Narrative Review
de Andrade, C. L. O., Alves, C., & Ramos, H. E. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.671784 · Cited by 16 · see citing works
Diagnóstico y seguimiento de los pacientes con hipotiroidismo congénito diagnosticados por cribado neonatal
Sánchez, A. R., Guinduláin, M. J. C., Merillas, M. A., Segura, S. A., Navarro, J. C. M., & Arnao, M. D. R. (2019) · Anales de Pediatría · doi:10.1016/j.anpedi.2018.11.002 · Cited by 20 · see citing works
Epidemiology of Thyroid Disease
Vanderpump, M. P. J. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.96019-7 · Cited by 17 · see citing works
Mortality in Children With Early-Detected Congenital Central Hypothyroidism
Zwaveling-Soonawala, N., Naafs, J. C., Verkerk, P. H., & van Trotsenburg, A. S. P. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00629 · Cited by 15 · see citing works
Initial and delayed thyroid-stimulating hormone elevation in extremely low-birth-weight infants
Yoon, S. A., Chang, Y. S., Ahn, S. Y., Sung, S. I., & Park, W. S. (2019) · BMC Pediatrics · doi:10.1186/s12887-019-1730-1 · Cited by 15 · see citing works
A 7-year study on the prevalence of congenital hypothyroidism in northern Iran
Beheshti, Z., Rezaei, R., Alipour, A., Kosaryan, M., & Saatsaz, S. (2018) · Electronic physician · doi:10.19082/6689 · Cited by 15 · see citing works
“In recent decades, an increase in the prevalence of CH has been observed in some countries (25, 26); however, the prevalence of CH in Iran is higher than in other countries (17, 27, 28).”
Background
Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism
Stroek, K., Visser, A., van der Ploeg, C. P. B., Zwaveling‐Soonawala, N., Heijboer, A. C., Bosch, A. M., van Trotsenburg, A. S. P., Boelen, A., Hoogendoorn, M., & de Jonge, R. (2023) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2023.03.001 · Cited by 14 · see citing works
Clinical guideline of «congenital hypothyroidism»
Peterkova, V. A., Bezlepkina, O. B., Shiryaeva, T., Вадина, Т. А., Nagaeva, E. V., Чикулаева, О. А., Shreder, E. V., Konuhova, M. B., Makretskaya, N., Андреевна, Ш. Е., et al. (2022) · Problems of Endocrinology · doi:10.14341/probl12880 · Cited by 14 · see citing works
Newborn screening for congenital hypothyroidism in Henan province, China
Zhao, D., Shen, Y., Gong, J., Meng, Y., Su, L., & Zhang, X. (2015) · Clinica Chimica Acta · doi:10.1016/j.cca.2015.10.030 · Cited by 14 · see citing works
Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings
Murphy, M. S. Q., Chakraborty, P. K., Pervin, J., Rahman, A. M., Wilson, L. A., Lamoureux, M., Denize, K. M., Henderson, M., Hawken, S., Potter, B. K., et al. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0993-1 · Cited by 14 · see citing works
Screening for Congenital Hypothyroidism
Lau, C. S., Joseph, R., & Aw, T. C. (2020) · Annals of the Academy of Medicine Singapore · doi:10.47102/annals-acadmedsg.2020618 · Cited by 14 · see citing works
The Impact of Seasonal Changes on Thyroxine and Thyroid-Stimulating Hormone in Newborns
McMahon, R., DeMartino, L., Sowizral, M., Powers, D., Tracy, M., Caggana, M., & Tavakoli, N. P. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7010008 · Cited by 13 · see citing works
“In recent years, the majority of programs perform a first-tier thyroid-stimulating hormone (TSH) screen, sometimes in combination with a second-tier thyroxine (T4) screen [2].”
Background
Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism
Kara, C., Mammadova, J., Abur, Ü., Gümüşkaptan, Ç., Güllü, E. İ., Dağdemir, A., & Aydın, M. (2023) · European Thyroid Journal · doi:10.1530/etj-22-0212 · Cited by 15 · see citing works
Outcomes of lowered newborn screening thresholds for congenital hypothyroidism
Yu, A., Alder, N., Lain, S. J., Wiley, V. C., Nassar, N., & Jack, M. (2023) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.16425 · Cited by 13 · see citing works
Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model
Jansen, H. I., van Haeringen, M., Bouva, M. J., den Elzen, W. P. J., Bruinstroop, E., van der Ploeg, C. P. B., van Trotsenburg, A. S. P., Zwaveling‐Soonawala, N., Heijboer, A. C., Bosch, A. M., et al. (2023) · European Thyroid Journal · doi:10.1530/etj-23-0141 · Cited by 13 · see citing works
A global perspective on newborn congenital hypothyroidism screening
Kopel, J. J. (2019) · Baylor University Medical Center Proceedings · doi:10.1080/08998280.2019.1668715 · Cited by 13 · see citing works
“Despite advances in genetic analysis, the etiology underlying thyroid dysgenesis remains elusive.1,2 However, several mutations in genes encoding thyroid peroxidase, thyroglobulin, and the sodiumiodide symporter are associated with CH.1,2 As shown in Table 1, there are five primary types of congenital hypothyroidism:…”
BackgroundInfluential
Evolution of congenital hypothyroidism in a cohort of preterm born children
Scavone, M., Giancotti, L., Anastasio, E., Pensabene, L., Sestito, S., & Concolino, D. (2020) · Pediatrics & Neonatology · doi:10.1016/j.pedneo.2020.07.014 · Cited by 13 · see citing works
The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand
Jaruratanasirikul, S., Piriyaphan, J., Saengkaew, T., Janjindamai, W., & Sriplung, H. (2018) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0340 · Cited by 13 · see citing works
Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results
Nascimento, M. L., Nascimento, A. L., Dornbusch, P., Ohira, M., Simoni, G., Cechinel, E., Linhares, R. M. M., Lee, J. V. D. S., & da Silva, P. C. A. (2020) · Archives of Endocrinology and Metabolism · doi:10.20945/2359-3997000000299 · Cited by 12 · see citing works
“Several factors seem to contribute to this effect, including the reduction in TSH cutoff levels in neonatal screening programs (4,7,8).”
Influential
Higher maternal thyroid resistance indices were associated with increased neonatal thyroid-stimulating hormone— analyses based on the Huizhou mother-infant cohort
Li, S., Wu, Y., Zhang, S., Li, G., Xiang, Y., Zhang, W., Pan, W.-J., Chen, W., Hao, Y., Ling, W., et al. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.937430 · Cited by 12 · see citing works
Prevalence of Transient Hypothyroidism in Children Diagnosed with Congenital Hypothyroidism between 2000 and 2016
Gmür, S., Konrad, D., & Fingerhut, R. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032817 · Cited by 13 · see citing works
Assessment of Neurodevelopment and Growth in Congenital Hypothyroidism: Serial 6-Year Follow-up Study of 408 Patients
Ha, E. K., Kim, J. H., Cha, H. R., Lee, G. C., Shin, J., Lee, E., Lee, W. S., Yoo, E.-G., Jung, M. K., & Han, M. Y. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad364 · Cited by 12 · see citing works
Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey
Kör, Y., & Kör, D. (2018) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0433 · Cited by 12 · see citing works
Neonatal Screening for Congenital Hypothyroidism in Romania: Data From Medilog Medical Information Registry
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“In maternity, a heel-prick dried whole blood spot sample is taken onto Guthrie cards (filter paper cards) at 3 (2) - 5 days after birth in normal weight term neonates.”
BackgroundMethodInfluential
Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation
Huynh, T., Greaves, R. F., Mawad, N., Greed, L. C., Wotton, T., Wiley, V. C., Ranieri, E., Rankin, W. A., Ungerer, J. P. J., Price, R., et al. (2022) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2022-0403 · Cited by 12 · see citing works
Congenital isolated central hypothyroidism: Novel mutations and their functional implications
Boelen, A., van Trotsenburg, A. S. P., & Fliers, E. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-820107-7.00010-0 · Cited by 11 · see citing works
Congenital Hypothyroidism in Neonates of a Tertiary Care Hospital
Ahmad, A., Wasim, A., Hussain, S., Saeed, M., Ahmad, B. M., & Rehman, K. U. (2017) · Pakistan Journal of Medical Sciences · doi:10.12669/pjms.335.12986 · Cited by 12 · see citing works
Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10 μIU/mL have congenital hypothyroidism
Christensen‐Adad, F. C., Mendes-dos-Santos, C. T., Goto, M. M. F., SEWAYBRICKER, L. E., D’Souza-Li, L. F. R., Guerra‐Júnior, G., Morcillo, A. M., & de Lemos‐Marini, S. H. V. (2017) · Jornal de Pediatria · doi:10.1016/j.jped.2017.05.003 · Cited by 12 · see citing works
Congenital hypothyroidism in preterm infants: a 3- to 8-year longitudinal study in southern Thailand
Jaruratanasirikul, S., Janjindamai, W., & Sriplung, H. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0054 · Cited by 12 · see citing works
Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Stroek, K., Heijboer, A. C., van Veen, M., Bosch, A. M., van der Ploeg, C. P. B., Zwaveling‐Soonawala, N., de Jonge, R., van Trotsenburg, A. S. P., & Boelen, A. (2021) · European Thyroid Journal · doi:10.1159/000513516 · Cited by 11 · see citing works
Neonatal reference intervals for thyroid stimulating hormone and free thyroxine assayed on a Siemens Atellica® IM analyzer: a cross sectional study
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“Unfortunately, most babies worldwide do not have access to a newborn screening program meaning that most cases of CH go undiagnosed [1].”
Background
Newborn Thyroid Screening: Influence of Pre-Analytic Variables on Dried Blood Spot Thyrotropin Measurement
Butler, A. M., Charoensiriwatana, W., Krasao, P., Pankanjanato, R., Thong-Ngao, P., Polson, R. C., Snow, G. L., & Ehrenkranz, J. R. L. (2017) · Thyroid · doi:10.1089/thy.2016.0452 · Cited by 11 · see citing works
“Among the 130 million babies born worldwide annually, only 25–30% are screened, and every year, approximately 1.4 million children with CH are not detected prior to the onset of permanent neurological damage (35,36).”
Influential
Knowledge of parents regarding newborn screening test, after accessing the website “Babies’ Portal” - Heel prick test
Mendes, C. A., Guigen, A. P., Anastácio-Pessan, F. D. L., Dutka, J. D. C. R., & Lamônica, D. A. C. (2017) · Revista CEFAC · doi:10.1590/1982-021620171949616 · Cited by 11 · see citing works
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Thyroid Disorders
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High Incidence of Congenital Hypothyroidism in One Region of the Republic of Macedonia
Anastasovska, V., Koviloska, R., & Kočova, M. (2014) · Balkan Journal of Medical Genetics · doi:10.2478/bjmg-2014-0024 · Cited by 11 · see citing works
“The incidence of CH is also significantly higher in this region compared with surrounding countries [3,4] and developing countries, in general (from 1:3000 to 1:4000), [5].”
Background
Papillary thyroid cancer in a patient with congenital goitrous hypothyroidism due to a novel deletion in NIS gene
Agretti, P., Bagattini, B., De Marco, G., Di Cosmo, C., Dionigi, G., Vitti, P., & Tonacchera, M. (2016) · Endocrine · doi:10.1007/s12020-015-0790-8 · Cited by 10 · see citing works

Worldwide Coverage of Newborn Screening for Congenital Hypothyroidism—A Public Health Challenge
LAFRANCHI, S. H. (2014) · US Endocrinology · doi:10.17925/use.2014.10.02.115 · Cited by 9 · see citing works
Self-citation
Redefining Congenital Hypothyroidism?
Vliet, G. V., & Escagedo, P. D. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa905 · Cited by 7 · see citing works
A global perspective on newborn congenital hypothyroidism screening
Kopel, J. J. (2019) · Baylor University Medical Center Proceedings · doi:10.1080/08998280.2019.1668715 · Cited by 13 · see citing works
Congenital hypothyroidism: current perspectives
Dayal, D., & Anne, R. P. (2015) · Research and Reports in Endocrine Disorders · doi:10.2147/rred.s56402 · Cited by 34 · see citing works
Newborn Screening for Congenital Hypothyroidism in Japan
Minamitani, K. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7030034 · Cited by 34 · see citing works

Authors: Ford, G., & LaFranchi, S. H.
Affiliations: Oregon Health & Science University (US)
Corresponding author: LaFranchi, Stephen H.
Venue: Best Practice & Research Clinical Endocrinology & Metabolism
Publisher: Elsevier BV
Published: 2014-03
Volume: 28
Issue: 2
Pages: 175-187
ISSN: 1521-690X (ISSN-L)
DOI: 10.1016/j.beem.2013.05.008
OpenAlex: W2040203752
Cited by: 274
References: 70
Citations by year: 2026: 12 · 2025: 25 · 2024: 19 · 2023: 31 · 2022: 28 · 2021: 43 · 2020: 30 · 2019: 14 · 2018: 22 · 2017: 19 · 2016: 15 · 2015: 11 · 2014: 4
FWCI: 1.47
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Best Practice & Research Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: congenital hypothyroidism, newborn screening, screening incidence, intellectual disability, transient hypothyroidism, screening coverage, thyroid imaging
MeSH terms: Cost-Benefit Analysis, Congenital Hypothyroidism, Developing Countries, Humans, Infant, Infant, Newborn, Intellectual Disability, Thyrotropin, Thyroxine, Incidence, Neonatal Screening

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Screening for congenital hypothyroidism: A worldwide view of strategies

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