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      Worldwide Recall Rate in Newborn Screening Programs for Congenital Hypothyroidism

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          Abstract

          Context

          Neonatal mass screening program for congenital hypothyroidism provides the best tool for prevention of its devastating effects on mental development. Despite the overall success of the screening programs in detecting congenital hypothyroidism and eliminating its sequelae and new developments made in the program design, high recall rate and false positive results impose a great challenge worldwide. Lower recall rate and false positive results may properly organize project expenses by reducing the unnecessary repeated laboratory tests, increase physicians and parents’ assurance and cooperation, as well as reduce the psychological effects in families.

          Evidence Acquisition

          In this review, we assessed the recall rate in different programs and its risk factors worldwide.

          Methods

          Publications reporting the results of the CH screening program from 1997 to 2016 focusing on the recall rate have been searched.

          Results

          Recall rates vary from 0.01% to 13.3% in different programs; this wide range may be due to different protocols of screening (use of T4 or TSH or both), different laboratory techniques, site of sample collection, recall cutoff, iodine status, human error, and even CH incidence as affected by social, cultural, and regional factors of the population.

          Conclusions

          It is suggested to implement suitable interventions to reduce the contributing factors by improving the quality of laboratory tests, selecting conservative cut off points, control iodine deficiency, use of iodine free antiseptic during delivery, and use of more specific markers or molecular tests. Applying an age dependent criteria for thyrotropin levels can be helpful in regions with a varied time of discharge after delivery or for preterm babies.

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          Most cited references96

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          Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis.

          The fact that neonates who subsequently have severe hypothyroidism have no evidence of the condition at birth suggests the possibility of the placental transfer of thyroid hormones. Recent studies have demonstrated the existence of such transfer in hypothyroid rats. To determine whether there is a transfer of thyroxine (T4) from mother to fetus, we studied 25 neonates born with a complete inability to iodinate thyroid proteins and therefore to synthesize T4. This total organification defect is an autosomal recessive disorder with an incidence of approximately 1 in 60,000 neonates in the Netherlands. In the cord serum of affected neonates, T4 levels ranged from 35 to 70 nmol per liter. Since these patients were unable to produce any T4, the T4 must have originated in their mothers. The estimated biologic half-life of serum T4 was 3.6 days (95 percent confidence interval, 2.7 to 5.3). In 15 neonates with thyroid agenesis, the serum levels and the disappearance kinetics of T4 were the same as those in the neonates with a total organification defect, suggesting that in these infants, the T4 also had a maternal origin. We conclude that in infants with severe congenital hypothyroidism, substantial amounts of T4 are transferred from mother to fetus during late gestation.
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            Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?

            Congenital hypothyroidism (CHT) is a common cause of preventable mental retardation, and the quantification of intellectual disability due to CHT is needed to assess the public health benefit of newborn screening. Review of published studies conducted among children born prior to the introduction of newborn screening for CHT and reporting cognitive test scores. Population-based studies. Children with clinically diagnosed CHT. Thyroid hormone substitution. Intelligence quotient (IQ) (mean and distribution). The prevalence of recognised CHT rose from one in 6500 prior to screening to approximately one in 3000 with screening. In four population-based studies in high-income countries, among children with clinically diagnosed CHT 8-28% were classified as having intellectual disability (defined as an IQ <70) and the mean IQ was 85 (a leftward shift of 1 SD). Among children with subclinical CHT, the risk of overt intellectual disability was lower (zero in one study), but decreased intellectual potential and increased behavioural abnormalities were documented. Although the prevalence of overt disability among children with CHT in the absence of screening may be less than previously estimated, the preventable burden of intellectual disability due to CHT is substantial and justifies newborn screening. However, changes in existing newborn screening protocols to capture more cases are unlikely to prevent overt cases of disability and should therefore be justified instead by the documentation of other benefits of early detection.
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              Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas.

              Primary congenital hypothyroidism (CH) is a common and preventable cause of intellectual disability. The incidence rate of CH has been reported to be increasing in the United States, but the factors behind the observed rate increase are not known. We summarize here the data presented at a workshop on CH, at which factors potentially related to the CH-incidence-rate increase (namely, race, ethnicity, sex, and birth outcomes) were evaluated. Data sources for the analyses included a national data set of newborn-screening results and state-specific data from newborn-screening programs in California, Massachusetts, New York, and Texas. The incidence rate of CH increased in the United States by 3% per year; however, an increase did not occur in all states, at a constant rate, or even at the same rate. Analysis of US data (1991-2000) showed a CH-incidence-rate increase only among white newborns. More recently, in California (2000-2007), the rate was constant in non-Hispanic newborns, but it increased among Hispanic newborns. In the national data, the CH-incidence rate increased similarly among boys and girls, whereas in Texas (1992-2006), the rate among boys increased significantly more than among girls and varied according to race and ethnicity. In Massachusetts (1995-2007), low birth weight newborns or newborns who had a delayed rise in thyrotropin concentration accounted for the majority of the recent rate increase. Race, ethnicity, sex, and pregnancy outcomes have affected the observed increasing incidence rate of CH, although there have been some inconsistencies and regional differences. The association with preterm birth or low birth weight could reflect the misclassification of some cases of transient hypothyroxinemia as true CH. Future studies of risk factors should focus on correct initial identification and reporting of demographic characteristics and pregnancy outcomes for cases of CH. In addition, long-term follow-up data of presumed cases of CH should be ascertained to differentiate true cases of CH from cases of transient hypothyroidism.
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                Author and article information

                Contributors
                Journal
                Int J Endocrinol Metab
                Int J Endocrinol Metab
                10.5812/ijem.
                Kowsar
                International Journal of Endocrinology and Metabolism
                Kowsar
                1726-913X
                1726-9148
                25 June 2017
                July 2017
                : 15
                : 3
                : e55451
                Affiliations
                [1 ]Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
                [2 ]Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
                [3 ]Endocrinology and Metabolic Office, Center for Disease Control, Ministry of Health and Medical Education, Tehran, IR Iran
                Author notes
                [* ]Corresponding author: Fereidoun Azizi, Professor of Internal Medicine and Endocrinology, Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, P.O. Box: 19395-4763, Tehran, IR Iran. Tel: +98-2122432503, Fax: +98-2122402463, E-mail: azizi@ 123456endocrine.ac.ir
                Article
                10.5812/ijem.55451
                5702453
                29201074
                fd9917ef-8e8a-44c4-b4ef-be2d5633c547
                Copyright © 2017, International Journal of Endocrinology and Metabolism

                This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

                History
                : 25 January 2017
                : 03 April 2017
                : 16 April 2017
                Categories
                Review Article

                congenital hypothyroidism,newborn screening,recall rate

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