Clinical Effectiveness and Cost-Effectiveness of the Use of the Thyroxine/Thyroxine-Binding Globulin Ratio to Detect Congenital Hypothyroidism of Thyroidal and Central Origin in a Neonatal Screening Program

Congenital hypothyroidism is the commonest preventable cause of mental retardation. It is more prevalent in endemic goiter regions like Bangladesh. But magnitude of the problem has not been studied at national level. This study was done to detect the frequency of congenital hypothyroidism in southem part of Bangladesh & to develop neonatal screening program. All the living newborns delivered between Oct 01 to June 05 Khulna Medical College Hospital were included in the study, After taking the relevant information from mother, cord blood sample were collected from the newborn within 120 hours of birth and kept in freezer. At the end of collection of each two months, the lot was sent to the laboratory of Institute of Nuclear Medicine, Dhaka for radioimmunoassay of TSH. Potential cases with TSH above 10 MIU were recalled for thyroid function test for confirmation of diagnosis. Fifteen hundred samples were collected in total during 45 months of study. One forty seven unsatisfactory samples were discarded; thereby 1353 samples were eventually assayed for TSH. Among the study population 88.2% hailed from Khulna district and the rest of the cases came from neighboring districts. Male to female baby ratio was 1.2:1. Regarding the birth weight 33.4% babies were low birth weight. TSH above 10 was found in 35 babies among whom one baby was hypothyroid and the other member of the twin was also hypothyroid although the TSH level was below 10. None of newborn had TSH level above 20. Thus frequency of congenital hypothyroidism was 1.5 per thousand living newborn. Congenital hypothyroidism in southern part of the country is quite high in relation to global incidence. Although this is not the national picture but the high figure is alarming. Therefore neonatal screening program should be implemented as soon as possible to reduce the number of mentally retarded child. doi: 10.3329/taj.v21i1.3212 TAJ 2008; 21(1): 18-22

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A Cost-Effectiveness Analysis of a Pilot Neonatal Screening Program for Sickle Cell Anemia in the Republic of Angola

The Journal of Pediatrics ◽

10.1016/j.jpeds.2015.08.068 ◽

2015 ◽

Vol 167 (6) ◽

pp. 1314-1319 ◽

Cited By ~ 21

Author(s):

Patrick T. McGann ◽

Scott D. Grosse ◽

Brigida Santos ◽

Vysolela de Oliveira ◽

Luis Bernardino ◽

...

Keyword(s):

Cost Effectiveness ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Neonatal Screening ◽

Screening Program ◽

Cost Effectiveness Analysis ◽

Effectiveness Analysis ◽

Neonatal Screening Program ◽

The Republic

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Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

Hormone Research in Paediatrics ◽

10.1159/000480293 ◽

2017 ◽

Vol 88 (3-4) ◽

pp. 274-280 ◽

Cited By ~ 7

Author(s):

Débora Braslavsky ◽

Maria Virginia Méndez ◽

Laura Prieto ◽

Ana Keselman ◽

Rosa Enacan ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

Recall Rate ◽

Free T4 ◽

Screening Programs ◽

Screening Study ◽

Term Newborns ◽

Neonatal Screening Program ◽

Congenital Hypopituitarism

Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2–7 days. Those with T4 ≤4.5 µg/dL (–2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.

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A Newborn Falsely Suspected of Congenital Hypothyroidism due to Mutated Thyroxine-Binding Globulin with Low Binding Affinity

Hormone Research in Paediatrics ◽

10.1159/000516691 ◽

2021 ◽

pp. 1-5

Author(s):

Rutger C.C. Hengeveld ◽

Monique Albersen ◽

Michael A.H. Hadders ◽

Ilse Hellinga ◽

Hennie Bikker ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

Sequencing Analysis ◽

Free T4 ◽

Gene Encoding ◽

Central Hypothyroidism ◽

Thyroxine Binding Globulin ◽

Screening Programs ◽

Dna Sequencing Analysis

Introduction: Neonatal screening programs for congenital hypothyroidism (CH) have been implemented worldwide to facilitate early diagnosis and treatment. The Dutch neonatal CH screening is primarily based on the measurement of thyroxine (T4). When T4 is low, an additional thyroxine-binding globulin (TBG) measurement is performed to reduce the number of false-positive screening results due to harmless TBG deficiency. Here, we present a case of a rare functional TBG deficiency leading to a false suspicion of CH. Case Presentation: Neonatal screening in this patient revealed a decreased T4, normal TSH, and normal TBG concentration, suggesting central CH. However, free T4 was normal. DNA sequencing analysis revealed a novel, hemizygous mutation (c.139G>A) in SERPINA7, the gene encoding TBG, resulting in the substitution of the conserved amino acid alanine to threonine at position 27. Crystal structure analyses showed that this substitution has a detrimental effect on binding of T4 to TBG. Conclusions: The novel SERPINA7 variant in this patient led to a false suspicion of central hypothyroidism in the Dutch T4-based neonatal screening program. It is important to recognize patients with such TBG defects to prevent unnecessary additional testing and treatment.

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Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2017-0433 ◽

2018 ◽

Vol 31 (6) ◽

pp. 619-624 ◽

Cited By ~ 2

Author(s):

Yılmaz Kor ◽

Deniz Kor

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

Thyroid Stimulating Hormone ◽

Initial Evaluation ◽

Current Status ◽

The Mean ◽

Neonatal Screening Program ◽

Heel Prick

Abstract Background: Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported incidence of primary CH occurs when the cut-off levels of thyroid-stimulating hormone are lowered. We aimed to evaluate the results of a congenital hypothyroidism screening program and current status in this study. Methods: Analysis results of 1300 infants who were referred to the endocrinology polyclinic because of suspected CH within the scope of the Ministry of Health National Neonatal Screening Program were retrospectively evaluated. Results: The diagnosis of CH and initiation of treatment were both done in 223 (18.5%) and 10 (0.8%) infants as a result of the initial evaluation and follow-up, respectively. The mean capillary and venous thyroid-stimulating hormone (TSH) levels of 223 patients were 40.78 (5.5–100) μIU/mL and 67.26 (10.7–100) μIU/mL, respectively. These patients’ mean heel prick time was 8.65 (0–30, median: 7) days. The mean age of the 223 infants whose treatment was initiated as a result of the initial evaluation was 19.87 (4–51, median: 20) days, and the mean age of the infants whose treatment was started at follow-up was 43.71 (29–65) days. The duration between heel prick time and venous TSH time was 11.10 (2–28, median: 11) days and was longer than planned (3–5 days). Conclusions: Although the duration for the diagnosis and initiation of CH treatment were markedly reduced with the implementation of the screening program in Turkey compared to those before the implementation of the screening program, we have not yet achieved the ideal time (≤14 days).

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High Prevalence of Congenital Hypothyroidism in the Greek Cypriot Population: Results of the Neonatal Screening Program 1990- 2000

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem.2005.18.5.453 ◽

2005 ◽

Vol 18 (5) ◽

Cited By ~ 11

Author(s):

N. Skordis ◽

M. Toumba ◽

S.C. Savva ◽

E. Erakleous ◽

M. Topouzi ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

Greek Cypriot ◽

High Prevalence ◽

Neonatal Screening Program

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Economics of tandem mass spectrometry screening of neonatal inherited disorders

International Journal of Technology Assessment in Health Care ◽

10.1017/s026646230605121x ◽

2006 ◽

Vol 22 (3) ◽

pp. 321-326 ◽

Cited By ~ 12

Author(s):

Abdullah Pandor ◽

Joe Eastham ◽

James Chilcott ◽

Suzy Paisley ◽

Catherine Beverley

Keyword(s):

Mass Spectrometry ◽

Cost Effectiveness ◽

Tandem Mass Spectrometry ◽

Neonatal Screening ◽

Screening Program ◽

Tandem Ms ◽

Tandem Mass ◽

Mcad Deficiency ◽

Life Years ◽

Neonatal Screening Program

Objectives:The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).Methods:A systematic review of clinical efficacy evidence and cost-effectiveness modeling of screening in newborn infants within a UK National Health Service perspective was performed. Marginal costs, life-years gained, and cost-effectiveness acceptability curves are presented.Results:Substituting the use of tandem MS for existing technologies for the screening of PKU increases costs with no increase in health outcomes. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS, with an operational range of 50,000 to 60,000 specimens per system per year, would result in a mean incremental cost of −£17,298 (−£129,174, £66,434) for each cohort of 100,000 neonates screened. This cost saving is associated with a mean incremental gain of 57.3 (28.0, 91.4) life-years.Conclusions:Cost-effectiveness analysis using economic modeling indicates that substituting the use of tandem MS for existing technologies for the screening of PKU alone is not economically justified. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS would be economically attractive.

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