scholarly journals Effectiveness of neonatal screening for congenital hypothyroidism

2021 ◽  
Vol 6 (1) ◽  
pp. e05-e05
Author(s):  
Behrouz Shayestefard ◽  
Naim Sadat Kia ◽  
Masoumeh Alimohammadi ◽  
Elaheh Ghods
Keyword(s):  
Mental Retardation ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Growth Failure ◽  
Physical Growth ◽  
Newborn Screening Program ◽  
Normal Children ◽  
Significant Difference ◽  
And Gender

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 > 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.

scholarly journals Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Who Guidelines ◽  
Newborn Screening Program ◽  
Study Results ◽  
Stimulating Hormone

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

scholarly journals Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program

2012 ◽  
Vol 28 (9) ◽  
pp. 1623-1631 ◽  
Author(s):  
Judy Botler ◽  
Luiz Antonio Bastos Camacho ◽  
Marly Marques da Cruz
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Ethnic Composition ◽  
Health Issues ◽  
Newborn Screening Program ◽  
Cell Disease ◽  
Laboratory Methods ◽  
Detection Coverage

In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.

scholarly journals MON-101 Costa Rican National Primary Congenital Hypothyroidism Screening Program Evaluation. Retrospective Cohort Trial Between 2015 and 2017

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Alejandro Cob ◽  
Fred Cavallo Aita ◽  
Agnes Rodríguez
Keyword(s):  
Newborn Screening ◽  
Sensitivity And Specificity ◽  
Congenital Hypothyroidism ◽  
Clinical Evaluation ◽  
Screening Test ◽  
Screening Program ◽  
Costa Rican ◽  
International Standards ◽  
Newborn Screening Program ◽  
The Third

Abstract Congenital hypothyroidism (CH) is one of the leading causes of intellectual impairment worldwide in infancy. The newborn screening has been able to prevent this mental disability, by a prompt initiation of therapy. Over the last years the incidence of HC has been increasing, mainly by lowering the screening cut-off level that leads to detection of milder cases. There is conflicting evidence if children with mild CH without treatment may develop neurological impairment in the future. Costa Rican newborn screening program in divided in three stages, measuring serum TSH concentrations from a heel prick aliquot of capillary blood dried onto a filter paper. Each test has different TSH cut-off values to determine if the newborn needs a clinical evaluation by an endocrinologist, needs another screening test or rules out hypothyroidism. We developed an observational, descriptive, retrospective study, based on medical records, to evaluate our newborn screening program performance. The study included the total national population of screened newborns from 2015 to 2017. Descriptive analysis and analytical analysis of variables were done, and test’s sensitivity and specificity were determined. The study analyzed 204.241 screened newborns, and 145 children referred to the Endocrinology Department of the National Children Hospital. This population represents 97% of births in these 3 years. The recall rate for a first positive test was 0.3%. Congenital hypothyroidism was confirmed in 73% of children referred to the Endocrinology Department because of a positive screening. Incidence was 1/1926 births. Detection rate was independent of birth weight nor gestational age. 45.3% of children diagnosed with CH were detected after the first screening test, 52.8% after the second screening test and 1.9% after the third screening test. Screening test analysis showed high sensitivity and specificity, with diagnostic accuracy above 90%, except for the third screening test. Free thyroxine measurements alone weren’t useful to predict CH diagnosis. The coverage of the national neonatal screening program extends almost to the entire population. Our test specificity is within international standards. Incidence of CH in Costa Rica is similar to that reported in medical literature. With current detection cut-off level, there is no need of performing a second mandatory evaluation to preterm and low weight newborns. The third screening test has a low performance rate, does not improve detection of children with CH significantly, and delays clinical evaluation by the endocrinologist. Prognosis of treated children with CH is excellent, with no evidence of severe cognitive deficit.

α-Fetoprotein and Hypothyroidism in Infants

PEDIATRICS ◽  
1992 ◽  
Vol 90 (6) ◽  
pp. 1008-1009
Author(s):  
G. J. MIZEJEWSKI ◽  
K. A. PASS
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
New York State ◽  
Elevated Serum ◽  
Thyroid Stimulating Hormone ◽  
Newborn Screening Program ◽  
Newborn Period ◽  
York State

To the Editor.— We recently have documented a relationship between serum α-fetoprotein (AFP) and congenital hypothyroidism (CH) in the newborn period. Previous studies in our laboratory and others had reported a relationship between elevated serum AFP and elevated thyroid-stimulating hormone (TSH)/low thyroxine T4 in newborns and infants in the first few months of life.1-4 The New York State Newborn Screening Program for CH routinely screens more than 300 000 specimens per year diagnosing 120 to 140 confirmed cases of CH annually.

scholarly journals Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013–2015

2018 ◽  
Vol 31 (6) ◽  
pp. 601-608 ◽  
Author(s):  
Kui Deng ◽  
Chunhua He ◽  
Jun Zhu ◽  
Juan Liang ◽  
Xiaohong Li ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Coastal Areas ◽  
Newborn Screening Program ◽  
Geographical Variations ◽  
Potential Association ◽  
Incidence Risk ◽  
Epidemiological Characteristics

Abstract Background: Congenital hypothyroidism (CH) is one of the most frequent, preventable causes of mental retardation. Little has been reported on the epidemiological characteristics of CH in China. We aimed to estimate the incidence of CH in China and investigate its geographical variation. Methods: We analyzed data from the nationwide newborn screening program for CH between 2013 and 2015. Poisson regression was used to generate the odds ratios (ORs) and 95% confidence intervals (CIs) between the rates of CH and selected demographic characteristics and assess the potential association between CH incidence and geographical locations. Results: A total of 18,666 patients with CH were identified from 45.2 million newborns, yielding an overall incidence rate of 4.13 per 10,000 live births. Compared with those in the remote area, regardless of infant sex, a higher incidence risk for CH was present in newborns in coastal areas and inland areas (females: OR=2.00, 95% CI: 1.86–2.16 and OR=1.74, 95% CI: 1.61–1.87, respectively; males: OR=1.70, 95% CI: 1.59–1.83 and OR=1.52, 95% CI: 1.42–1.63, respectively). Additionally, the highest risk of CH for thyroid-stimulating hormone (TSH) screening values <40 mU/L was observed among neonates in the coastal areas, while TSH screening values of 70–100 mU/L were observed among those in the inland areas. Conclusions: The overall incidence of CH is high in China. The significant geographical variations of CH incidence are presented in this study.

Determining the TSH reference range in national newborn screening program for congenital hypothyroidism

2019 ◽  
Vol 33 (19) ◽  
pp. 3244-3248 ◽  
Author(s):  
Fatemeh Dorreh ◽  
Ali Chehrei ◽  
Fatemeh Rafiei ◽  
Afsaneh Talaei ◽  
Mohammadreza Rezvanfar ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Reference Range ◽  
Screening Program ◽  
Newborn Screening Program

scholarly journals The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

2017 ◽  
Vol 6 (8) ◽  
pp. 926-934 ◽  
Author(s):  
Chunyun Fu ◽  
Shiyu Luo ◽  
Yingfeng Li ◽  
Qifei Li ◽  
Xuehua Hu ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Prolonged Treatment ◽  
Newborn Screening Program ◽  
Blood Samples ◽  
Autonomous Region ◽  
Early Differentiation ◽  
Guangxi Zhuang Autonomous Region ◽  
Tsh Levels

Background The incidence of congenital hypothyroidism (CH) differs significantly among different ethnicities and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T4. Objective To investigate the incidence of CH based on the newborn screening program in Guangxi Zhuang Autonomous Region, China, and to analyze the predictors that might allow for an early differentiation between permanent (P) and transient (T) CH. Design and methods Data from newborn screening program over a seven-year period (January 2009 to January 2016) at Guangxi Maternal and Child Health Hospital are analyzed. Blood samples were collected on filter paper between 3 and 7 days after birth, and TSH level was measured by time-resolved fluorescence assay. Individuals with increased TSH (TSH ≥ 8 IU/L) levels detected by newborn screening were recalled for further evaluation. Serum TSH, FT3 and FT4 were determined by electrochemiluminescence assay using venous blood samples. Diagnosis of CH is based on elevated TSH levels (>10 IU/L) and decreased FT4 levels (<12 pmol/L). Patients with elevated TSH levels and normal FT4 levels were diagnosed as hyperthyrotropinemia. Permanent or transient CH was determined by using the results of thyroid function tests after temporary withdrawal of L-T4 therapy at approximately 2–3 years of age. Results Among 1,238,340 infants in the newborn screening program, 14,443 individuals were recalled for reevaluation (re-call rate 1.18%), 911 and 731 individuals were subsequently determined to have hyperthyrotropinemia and CH respectively; thus, a prevalence of 1:1359 and 1:1694 for hyperthyrotropinemia and CH. Of the 731 patients with CH, 161 patients were diagnosed with permanent CH (PCH), and 159 patients were diagnosed with transient CH (TCH), the other 411 patients are too young to determine their subtypes. Patients with PCH required an increasing dose of L-T4 during the first few years, whereas patients with TCH required a decreased dose of L-T4. The TSH levels at diagnosis and the dose of L-T4 used were significantly higher in PCH cases than in transient cases. The FT4 levels at diagnosis were significantly lower in PCH cases than in TCH cases. The TSH levels at diagnosis, FT4 levels at diagnosis and L-T4 doses at 90 days were evaluated as predictors for differentiating PCH and TCH, and their accuracy at their respective optimal cutoffs were determined to be 60.6%, 66.7% and 93.9%, respectively. Conclusions The CH incidence in Guangxi Zhuang Autonomous Region is slightly higher (1:1694) compared to the worldwide levels (1/2000–1/4000). The PCH and TCH ratio is close to 1; thus, the estimated PCH incidence is 1/3388, which is similar to reported worldwide average incidence (1/3000). The L-T4 dose required at 90 days (>30 μg/day) has the highest predictive value for PCH. Earlier differentiation of PCH and TCH helps to determine appropriate treatment course.

Sign in / Sign up

Export Citation Format

Share Document