Neonatal Screening Program of Congenital Hypothyroidism: How Can We (Still) Improve?

2021 ◽  
Author(s):  
Maria José Costeira ◽  
Andreia Martins ◽  
Raquel Reis ◽  
Laura Vilarinho ◽  
Joana Palha
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Very Low Birth Weight ◽  
Screening Program ◽  
Great Majority ◽  
Thyroid Stimulating Hormone ◽  
Pituitary Thyroid Axis ◽  
Neonatal Screening Program ◽  
Universal Procedure ◽  
Special Circumstances

Abstract Background: Congenital hypothyroidism (CH) has severe and irreversible neurological consequences for the child if treatment is not readily initiated, which justifies fast diagnosis. Screening of CH is a universal procedure well established in Portugal. It is based on measuring the pituitary thyroid stimulating hormone. The physiology of maturation of the pituitary-thyroid axis is incomplete at delivery in preterm and very-low birth weight babies (VLBW), which raises concerns with respect to the standard timing of CH diagnosis.The Portuguese Neonatal Screening Program recommends testing preterm/VLBW babies at three time points. The purpose of this study was to assess compliance of these guidelines.Methods: Questionnaires were sent to neonatal care units (NCU) and to general practitioner community health units in two time periods.Results: All NCU have written guidelines and the great majority follows the recommendations. Few NCU still postpone the first collection for newborns with protein intake restrictions, some retest new-borns in special circumstances, and a great number still use iodine disinfectants.Conclusions: This study shows that performing the metabolic screening is a well standardized procedure that can still be improved: not delaying the first collection, retesting sick and medicated babies, and avoiding iodine disinfectants.

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

2018 ◽  
Vol 31 (6) ◽  
pp. 619-624 ◽  
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).

scholarly journals Congenital Hypothyroidism in the Southern Bangladesh

1970 ◽  
Vol 21 (1) ◽  
pp. 18-22 ◽  
Author(s):  
C Habibur Rasul ◽  
S Nahar Lucky ◽  
S Rahman Miah ◽  
F Moslem
Keyword(s):  
Birth Weight ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Program ◽  
National Level ◽  
Retarded Child ◽  
Thyroid Function Test ◽  
Cord Blood Sample ◽  
College Hospital ◽  
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

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

2017 ◽  
Vol 88 (3-4) ◽  
pp. 274-280 ◽  
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.

Prevalence and Etiology of Congenital Hypothyroidism Detected through an Argentine Neonatal Screening Program (1997-2010)

2013 ◽  
Vol 80 (3) ◽  
pp. 185-192 ◽  
Author(s):  
Ana Chiesa ◽  
Laura Prieto ◽  
Virginia Mendez ◽  
Patricia Papendieck ◽  
María de Luján Calcagno ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Program ◽  
Neonatal Screening Program

scholarly journals Transient Congenital Hypothyroidism Caused by Biallelic Mutations of the Dual Oxidase 2 Gene in Japanese Patients Detected by a Neonatal Screening Program

2008 ◽  
Vol 93 (11) ◽  
pp. 4261-4267 ◽  
Author(s):  
Yoshihiro Maruo ◽  
Hiroko Takahashi ◽  
Ikumi Soeda ◽  
Noriko Nishikura ◽  
Katsuyuki Matsui ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Program ◽  
Thyroid Peroxidase ◽  
Compound Heterozygous ◽  
Recessive Trait ◽  
Dual Oxidase ◽  
Neonatal Screening Program ◽  
Biallelic Mutations ◽  
Transient Congenital Hypothyroidism

Context: Mutations in dual oxidase (DUOX2) have been proposed as a cause of congenital hypothyroidism. Previous reports suggest that biallelic mutations of DUOX2 cause permanent congenital hypothyroidism and that monoallelic mutations cause transient congenital hypothyroidism. Objective: To clarify the inheritance of hypothyroidism, we looked at the DUOX2 gene in patients with transient congenital hypothyroidism. Design: DUOX2, thyroid peroxidase, Na+/I− symporter and dual oxidase maturation factor 2 genes were analyzed in eight patients with transient congenital hypothyroidism, using the PCR-amplified direct sequencing method. Patients: The eight patients were found by a neonatal screening program. Six of these patients belonged to two independent families; the other two were unrelated. Their serum TSH values varied from 24.8–233.0 mU/liter. Six of the eight patients had a low serum freeT4 level (0.19–0.84 ng/dl). Seven of the eight patients were treated with thyroid hormone replacement therapy, which ceased to be necessary by 9 yr of age. Results: Eight novel mutations were detected in the DUOX2 gene. Four patients in one family were compound heterozygous for p.L479SfsX2 and p.K628RfsX10. Two patients in a second family were compound heterozygous for p.K530X and p.[E876K;L1067S]. The two remaining unrelated patients were also compound heterozygous, for p.H678R/p.L1067S and p.A649E/p.R885Q, respectively. Conclusion: All eight patients had biallelic mutations in the DUOX2 gene. We find that loss of DUOX2 activity results in transient congenital hypothyroidism and that transient congenital hypothyroidism caused by DUOX2 mutations is inherited as an autosomal recessive trait.

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