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PubMed · 15906708

Neonatal screening program in Thailand.

Abstract

The Neonatal Screening Program for congenital hypothyroidism (CHT) and phenylketonuria (PKU) commenced in 1996 with the objective of bringing better quality of life to people throughout the country, especially in the remote areas. This involved the implementation of routine services to the public health infrastructure all over the country. The plan of action has been designed so that by the year 2000 all public health service units throughout the country may provide screening services which can cover 1.2 million babies/ annum. Implementation of the screening program has been performed through public health sectors all over the country. These involved: education of the health personnel and communities, implementation of routine specimens collection and delivery systems to the central laboratories, establishment of central laboratory screening services, routine follow up and case management. Local in-house reagents using ELISA and IRMA techniques have been developed and utilized as screening and confirmation tests for CHT. In addition, Guthrie's test has been used for PKU screening and the automated Fluorometry has been selected for PKU confirmation. All 724 community hospitals have provided newborn screening services as one of the basic requirements for newborns according to public health policy. Of 1,425,025 babies screened, 3,450 (0.24%) were above the first screening cut off for CHT (TSH > 25 mU/l) and 321 (0.02%) for PKU (PKU > 4mg/dl). With a 63.10% follow up rate, the incidences were 1:3,314 for CHT and 1:237,504 for PKU. Newborn screening has been implemented as routine practice for all public health sectors of the country for CHT and PKU. It is expected that by the year 2003, all Thai newborns will be provided with screening services resulting in a better quality of life for the next generation.

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Wiyada Charoensiriwatana, Noppavan Janejai, Wanpen Boonwanich, Piamnukul Krasao, Sumonta Chaisomchit, Supaphan Waiyasilp. 2003. Neonatal screening program in Thailand.. https://pubmed.ncbi.nlm.nih.gov/15906708/

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Rate of recalls in congenital hypothyroidism based upon a regional survey in Isfahan, Iran, using serum T4 and TSH analyses: comparison of two different recall methods.

AIMS: To evaluate and compare the recall rate in congenital hypothyroidism screening project in Isfahan, first using an approach involving measures of both TSH and T4 and then using TSH alone. METHODS: From June 2002 to January 2005, serum TSH and T4 level of referred neonates were measured at 3rd to 7th day of birth through venous sampling. If neonates' serum TSH was >20 mIU/l or T4 was <6.5 microg/dl by the first protocol, or TSH was >20 mIU/l by the second protocol, they were recalled. TSH and T4 were measured using an immunoradiometric assay and radioimmunoassay, respectively. Neonates with TSH > 10 and T4 < 6.5 on their second measurement were considered as congenitally hypothyroid. RESULTS: Serum T4 and TSH of 29,425 neonates by first and 57,235 neonates by second recall approach were measured. Recall rate was higher in the first protocol (2.2% vs. 0.6%, p < 0.05). Most of the recalled neonates in the first protocol were recalled for low T4 level (p < 0.05). The prevalence of CH was 1 in 350 livebirths. CONCLUSION: Although the recall rate was in the acceptable range by either approach, the TSH alone protocol seems to be a more sensitive and practical approach with the least recall burden and considering the high prevalence of CH in our region merit adaptation of widespread screening for CH using TSH measurements from heel stab blood spotted on filter paper.

Congenital Hypothyroidism↗

[Left ventricular function in congenital hypothyroidism neonates before and after thyroxine substitution therapy].

OBJECTIVE: To evaluate left the systolic and diastolic functions in neonates with congenital hypothyroidism (CH) as well as the effect of thyroxine substitution therapy on left ventricular function and its correlation with thyroid hormones serum levels. METHODS: M-mode echocardiography was used to examine the left ventricular ejection fraction (LVEF) and left ventricular fractional shortening (LVFS), pulse wave Doppler was used to examine the peak early diastolic mitral inflow velocity (E(m)) and peak late diastolic mitral inflow velocity (A(m)), quantitative tissue velocity imaging (QTVI) was used to examine the systolic peak mitral annular velocity (s(m)), early diastolic peak mitral annular velocity (E(m)), and the late diastolic peak mitral annular velocity (a(m)), and tissue tracking imaging (TTI) was used to detect the systolic mitral annular displacement (MAD) in 40 neonates with congenital hypothyroidism aged 15-28 days before and after 1-month levothyroxine substitution treatment. Thirty normal neonates were used as controls. Chemiluminescent immunoassay was used to measure the TT(3), TT(4) and TSH levels. Correlation analysis was also made between the ventricular function parameters and the serum TT(3), TT(4), and TSH levels. RESULTS: The left systolic function parameters (LVEF, s(m), MAD, E(m) and e(m)) was 0.61 +/- 0.08, 2.60 cm/s +/- 0.60 cm/s, 0.29 cm +/- 0.06 cm, 0.59 m/s +/- 0.12 m/s and 2.72 cm/s +/- 1.43 cm/s respectively, in CH group, and 0.67 +/- 0.06, 3.25 cm/s +/- 0.51 cm/s, 0.41 cm +/- 0.08 cm, 0.72 m/s +/- 0.11 m/s and 4.51 cm/s +/- 1.23 cm/s in control group (P < 0.01). Left function in CH neonates before treatment were all lower than those of the controls (P < 0.01), which significantly increase after 1-months L-T(4) substitution therapy, 0.69 +/- 0.05, 3.46 cm/s +/- 0.64 cm/s, 0.45 cm +/- 0.08 cm, 0.82 m/s +/- 0.17 m/s and 5.09 cm/s +/- 1.37 cm/s, (P < 0.01). Those parameters were positively correlated with TT(4) serum levels (P < 0.01), and were negatively correlated with TSH (all P < 0.01). In particular, MAD, sm, E(m), and em were highly correlated with serum TT(4) and TSH (r = 0.667, 0.538, 0.478, and 0.599 respectively, all P < 0.001;and r = -0.670, -0.521, -0.490, and -0.583 respectively, all P < 0.001). CONCLUSION: Neonates with CH have lower left systolic and diastolic functions. Early L-T(4) substitution therapy can reverse these changes.

Congenital Hypothyroidism↗

Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism.

Several characteristics of congenital hypothyroidism (CH) from thyroid dysgenesis (ectopy and athyreosis) are sexually dimorphic: girls are more often affected, and boys are twice more likely than girls to have absent knee epiphysis at diagnosis, an indicator of severity of CH. Whether the biochemical severity of CH is sexually dimorphic is unknown. We therefore reviewed the charts of all newborns referred to our clinic from 1990 to 2004 because of a TSH greater than 15 mU/liter on newborn screening. In ectopy (24 boys, 78 girls) at screening, median TSH was lower in boys than girls (75 vs. 135 mU/liter, P = 0.017), whereas total T4 was higher (123 vs. 68 mmol/liter, P = 0.003); the same differences were present at diagnosis: TSH was 90 and 284 mU/liter (P = 0.001) and free T4 10 and 7 pmol/liter (P = 0.049) in boys and girls, respectively. The log-linear relationships between TSH and T4 at screening and diagnosis were similar in both sexes. In athyreosis (10 boys, 14 girls) at screening and diagnosis, TSH was higher in boys [308 vs. 207 (P = 0.053) and 712 vs. 555 mU/liter (P = 0.0057)]. In infants with an orthotopic gland (dyshormonogenesis, nine boys, 13 girls), there was no sex difference in biochemical severity of CH. In conclusion, sexual dimorphism in biochemical severity of CH from thyroid dysgenesis is apparent but differs according to etiology. These novel findings suggest that sexual dimorphism should be considered as a modulator of the mechanisms underlying the fate and function of ectopic thyroid cells.

Congenital Hypothyroidism↗