Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India

Gopalakrishnan, Vignesh; Joshi, Kriti; Phadke, Shubha R.; Dabadghao, Preeti; Agarwal, Meenal; Das, Vinita; Jain, Suruchi; Gambhir, Sanjay; Gupta, Bhavana; Pandey, Anshuman; Kapoor, Deepa; Kumar, Madhu; Bhatia, Vijayalakshmi

doi:10.1007/s13312-014-0485-x

Cited by 33 publications

(30 citation statements)

References 17 publications

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“…As a result, 1.18% neonates were recalled for confirmatory test. This re-rate is higher than that of Mexico (0.15%) ( 9 ), Brazil (0.21%) ( 10 ), Netherlands (0.18%) ( 11 ) and Thailand (0.24%) ( 12 ), but lower than that of Iran (1.76%) ( 13 ), Turkey (7.2%) ( 14 ), India (1.39%) ( 15 ) and Bahrain (4%) ( 16 ).…”

Section: Discussionmentioning

confidence: 80%

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

Luo

et al. 2017

Endocrine Connections

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BackgroundThe 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.ObjectiveTo 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 methodsData 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.ResultsAmong 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.ConclusionsThe 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.

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Section: Discussionmentioning

confidence: 80%

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

Luo

et al. 2017

Endocrine Connections

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“…The incidence of CH varies from 1 in 4000 to 1 in 1000 in newborn infants as has been reported from various parts of world [5]. Developing countries like India and Iran have a higher inci dence of CH [6,7]. In countries like The US, Canada, New Zealand, Italy, Greece and Argentina the incidence of CH has nearly doubled since the introduction of newborn screening pro grammes [5,[8][9][10][11][12].…”

Section: Epidemiologymentioning

confidence: 97%

Congenital Hypothyroidism

Jain¹,

Prabhakar

Anand

2015

Journal of Neonatology

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Congenital hypothyroidism is one of the commonest preventable causes of mental retardation is also the most common congenital endocrine disorder of childhood. The subtlety of clinical features and protective effect of the maternal hormone on fetal brain after crossing the placenta mask the clinical features. The incidence varies from 1 in 4000 to 1 in 1000 in newborn infants in various parts of world and is increasing world wide. Thyroid agenesis remains the most common etiology of CH and other causes are dyshormonogenesis, defects in peripheral thyroid hormone transport, metabolism, or action. CH is usually diagnosed after neonatal screening tests and if treatment started with in few weeks of birth neurodevelopmental outcome is usually normal. Levothyroxine (T4) remains the treatment of choice as most brain T3 is derived from local monodeiodination of T4 and studies have shown normal serum level of T3 in infant treated with T4 alone.

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“…Hypotonia, ataxia, skin rash and seborrhea are the rare presentations. The incidence of biotinidase deficiency in Uttar Pradesh, India was found to be 0.16% [14].…”

Section: Application To Newborn Screeningmentioning

confidence: 99%

A Micro-Method for Biotinidase Estimation Using Dried Blood Spots And Comparison with Plasma Biotinidase

Mohan¹,

Baba²,

Prasad³

et al. 2017

IOSR JDMS

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Aims: To develop a micro-method for biotinidase estimation using dried blood spots based on the colorimetric assay developed by Heard et al. Results: A novel micro-method for biotinidase assay from dried blood spots was developed and validated using Heard et al method for plasma (n=35) and Yamaguchi et al method for dried blood spot (n=22).The correlation coefficients obtained by plotting the values obtained by novel method against the values by Heard et al and Yamaguchi et al methods were 0.86 and 0.90 respectively. Regression analysis between the novel method and Heard et al method resulted in the following equation for interconversion of values: Plasma Biotinidase in nmol/min/ml =0.8233 + [18.4755 (Blood spot OD 540-OD 655)]. Biotinidase normal range for plasma was 4.76-10.77 nmol/min/ml and for blood spot was 4.52-9.14 nmol/min/ml. The intra assay CVs were in the range of 2.8% to 3.2% for plasma/serum and 1.5 to 9.3% for dried blood spots. The inter assay CVs were in the range of 3.3 to 4.7% for plasma/serum and 2.5 to 9.5% for dried blood spots. Mean activity in 1000 blood spots of newborns was 6.18  3.04 nmol/min/ml. Conclusion: The modified method can be applied both for newborn screening as well as diagnostic test for biotinidase deficiency.

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Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India

Cited by 33 publications

References 17 publications

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

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

Congenital Hypothyroidism

A Micro-Method for Biotinidase Estimation Using Dried Blood Spots And Comparison with Plasma Biotinidase

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