Congenital Hypothyroidism-Newborn Screening-The PIMS Experience (original) (raw)
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The emerging role of a newborn screening program for congenital hypothyroidism: a prospective study
Pediatric Review: International Journal of Pediatric Research, 2020
Aim: The current study aims to evaluate the incidence & screening of neonates for congenital hypothyroidism for timely diagnosis and integral psychomotor development. Material & Methods: A prospective study was carried out in the Department of Pediatrics, Chirayu Medical College & Hospital Bhopal, India from a period from January 2015 to December 2018. All newborns with the gestational age of 34 weeks or more delivered in the hospital during the study period were screened for hypothyroidism and analyzed. Result: A total of 1363 babies were enrolled out of which 1272 were an eligible candidate for the study period. Numbers of term deliveries were 1109 and preterm deliveries were 163, with 665 (52.28%) males and 607 (47.72%) female babies. Of the total eligible neonates, 1109 were term babies and 163 were preterm babies with more than 34 weeks. Neonatal thyroid-stimulating hormone was estimated in all 1272 neonates out of which 2 cases were positive for CH, 12 cases had initially high values between 10-19 µIU/L but later on, repeat testing after two weeks were found to be within normal limits and rest all 1258 cases were normal. Conclusion: Timely diagnosis and treatment of CH are important in order to prevent its consequences. NBS is the need of the hour for early diagnosis of CH, which is simple, fast as well as cost-effective.
2021
Objectives: The study objective was to establish serum TSH cut off value for diagnosis of new case of congenital hypothyroidism and to estimate frequency of Congenital Neonatal Hypothyroidism. Methods: A case control study was conducted at DHQ Teaching Hospital of DG Khan Medical College, Dera Ghazi Khan during 2020 to establish reference values of TSH and T4 for study population. Sample size was calculated by classical sample size calculation formula Cochran WG 1977 sampling technique. A group of 30 neonates of normal, healthy, euthyroid mothers was taken as Neonatal Control Group to estimate levels of TSH and total T4 in normal neonates. Neonatal Study Group was neonates of hypothyroid mothers (n=75). Simple random sampling technique was applied. Results: Mean (mean ± SD) Serum TSH levels of Neonatal Control Group were found to be 3.58 ± 03.09 mIU/l. Mean Serum TSH levels among Neonatal Study Group were found to be 6.88 ±12.95 mIU/l and serum total T4 were found to be 16.78 ± 6.96...
Congenital hypothyroidism in neonates
Indian Journal of Endocrinology and Metabolism, 2014
and Lady Willington Hospital Lahore in 6 months (January-June 2011). Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH) level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8%) newborns had elevated TSH level. CH had statistically significant association with mother's hypothyroidism (P value 0.000) and mother's drug intake during the pregnancy period (P value 0.013). Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother's hypothyroidism and mother's drug intake during pregnancy.
We are living in a time of unprecedented increase in knowledge and rapidly changing technology. Such biotechnology especially when it involves human subjects raises complex ethical, legal, social and religious issues. The establishment of newborn screening programmes in developing countries poses major challenges as it competes with other health priorities like control of infectious diseases, malnutrition and immunization programmes. Despite this, it is imperative that the importance of newborn screening programmes is recognised by developing countries as it has been proven through decades of experience that it saves thousands of babies from mental retardation, death and other serious complications. Pakistan has an estimated population of 167 million inhabitants, 38.3% of whom are under 15 years of age. Pakistan lacks a national programme for newborn screening. However, as individual practice at the local level, Aga Khan University Hospital (AKUH) and a few other hospitals are doing newborn screening for congenital hypothyroidism. The main hurdle in the implementation of newborn screening in Pakistan is the lack of good infrastructure for health. Eighty percent of deliveries take place at home. Moreover, little resources are available for children identified with a genetic condition due to the non-existence of genetic and metabolic services in Pakistan. In a 20-year audit of congenital hypothyroid screening at AKUH we found 10 babies with congenital hypothyroidism. However due to missing data links spanning several years, we were unable to calculate its true incidence during this period. In order to estimate the incidence of congenital hypothyroidism (CH) we reviewed in detail data over 10 months in 2008, a period where there was better compliance for repeat thyroid stimulating hormone (TSH) testing, and found 2 babies with CH. This gave an estimated incidence of 1 in 1600 live births.
Bangladesh Journal of Nuclear Medicine
Background: Newborn screening programs signify early and presymptomatic detection of treatable disorders which authorize commencement of prompt medication to alleviate notable fatality. Newborn screening (NBS) for congenital hypothyroidism (CH) has been a successful public health initiative in preventive medicine over the last few decades. Previous pilot (1999-2006) and phase 1 (2006-2011) NBS program in Bangladesh reported an increased incidence compared to global data which urged to initiate a second phase NBS program for the detection of CH. Materials & Methods: Neonates’ blood was collected from the umbilical cord or by heel prick and drawn on the Guthrie filter paper card. Thyroid-stimulating hormone (TSH) was measured from this filter paper by Immunoradiometric assay (IRMA) or Dissociation Enhanced Lanthanide Fluorescence Immunoassay (DELFIA) method. Results: 123 out of 2,61,550 neonates have already been diagnosed with congenital hypothyroidism from September 2018 to August 2...
Jornal de Pediatria, 2016
Objectives: To assess the prevalence of congenital hypothyroidism and the ability of various neonatal thyroid-stimulating hormone (TSHneo) cutoff values to detect this disease. Methods: This cohort study was based on the retrospective collection of information available from the Reference Service for Newborn Screening database for all live births from January 1, 2010, to December 31, 2012, assessed using the Newborn Screening Program of a Brazilian state, Brazil. The infants were divided into two groups: I-Control: infants with normal newborn screening tests and II-Study: infants with congenital hypothyroidism. Analysis included comparing the TSHneo levels from both groups. A receiver operating characteristic (ROC) curve was constructed to assess the TSHneo cutoff values. Results: Using a TSHneo cutoff value of 5.0 IU/mL, 50 out of 111,705 screened infants had diagnosis of congenital hypothyroidism (prevalence 1:2234 live births). The ROC curve showed that TSHneo value of 5.03 IU/mL had 100% sensitivity and the greatest associated specificity (93.7%). The area under the curve was 0.9898 (p < 0.0001). Conclusions: The ROC curve confirmed that the TSHneo cutoff value of 5.0 IU/mL adopted by the Newborn Screening Program of a Brazilian state was the most appropriate for detecting congenital hypothyroidism and most likely explains the high prevalence that was found.
Newborn screening for congenital hypothyroidism in Rasht, North of Iran, 2007
Early Human Development, 2008
Clinical, demographic and laboratory data from infants with congenital hypothyroidism (CH) born in the Australian state of Victoria from the commencement of neonatal screening in mid-1977 until December 1988 are reported. These provide a baseline for a 12-year prospective longitudinal study on physical and neuro-psychological outcome until mid-1997, the subject of a second paper. Infants with CH were detected using a primary TT4 screening test. Demographic data were collected prospectively using a clinical assessment protocol. Nearly all affected infants underwent 99m Tc pertechnetate scanning at the initial assessment to determine the underlying aetiology of their hypothyroidism. 704,723 infants were screened and 199 with permanent primary hypothyroidism (one in 3,541) were identified. The most common aetiologies were thyroid ectopia (46%), thyroid aplasia (33%), and 'dyshormonogenesis' (11%). The clinical abnormalities classically described
Establishment of National programme on newborn screening for congenital hypothyroidism
Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Introduction: Congenital hypothyroidism is one of common disorders related to mental impairment and growth retardation in newborns. Hence, screening programs are performed for early diagnosis as most infants are with no clinical signs for recognition at birth. Objective: To evaluate key performance indicators of the congenital hypothyroidism screening programme in terms of coverage, effectiveness of detection and managing cases during the year 2016.
Congenital Hypothyroidism in Neonates of a Tertiary Care Hospital
Pakistan journal of medical sciences
To determine neonatal congenital hypothyroidism among neonates born in a tertiary care hospital of Lahore Pakistan. This cross-sectional study was carried out at Pathology Department of Allama Iqbal Medical College, Lahore in collaboration with Pediatrics and Gynecology & Obstetrics Department, Jinnah Hospital, Lahore Pakistan. A total of 770 babies were included in this study, both male and female. About 2 ml venous blood samples were collected aseptically from the neonates in sterile clotted tube. Serum was separated and serum TSH was determined by ELISA method. Out of total 770 neonates, 48.9% were female and 51.0% were males with the ratio of 1:1.04. Neonatal congenital hypothyroidisim (TSH, >30 mIU/L), was observed in 0.4% (Frequency, 1:257) nenates, with the incidence rate of 1:257. Female to male ratio of hypothyroid neonates was 2:1. The mode of delivery vise distribution showed, among n=251 neonates born by normal delivery, only a single case of hypothyroidism was detect...