Neonatal Screening For Congenital Hypothyroidism Research Articles

Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil.

A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 (Group 2) to 6 mIU/L (Group 1) in a public neonatal screening program. During the study period, 40% of 123 newborns with CH (n = 162,729; incidence = 1:1323) had b-TSH between 6 and 10 mIU/L. Group 1 patients had fewer clinical signs (p = 0.02), lower serum TSH (p < 0.01), and higher free T4 (p < 0.01) compared to those in Group 2 at diagnosis. Reducing the b-TSH cut-off from 10 to 6 mIU/L increased screening sensitivity, allowing a third of diagnoses, mainly mild cases, not being missed. However, when evaluating the performances of b-TSH cut-offs (6, 7, 8, 9, and 10 mIU/L), the lower values were associated with low positive predictive values (PPVs) and unacceptable increased recall rates (0.57%) for a public health care program. A proposed strategy is to adopt a higher b-TSH cut-off in the first sample and a lower one in the subsequent samples from the same child, which yields a greater number of diagnoses with an acceptable PPV.

Neonatal Screening for Congenital Hypothyroidism: A Study Conducted in a Tertiary Care Hospital of Gujarat

Neonatal Screening for Congenital Hypothyroidism: A Study Conducted in a Tertiary Care Hospital of Gujarat

History of Neonatal Screening of Congenital Hypothyroidism in Portugal.

Congenital hypothyroidism (CH) leads to growth and development delays and is preventable with early treatment. Neonatal screening for CH was initiated in Portugal in 1981. This study examines the history of CH screening in the country. Data were obtained from annual reports and from the national database of neonatal screening laboratory. The CH screening strategy primarily relies on the thyroid-stimulating hormone (TSH), followed by total thyroxine measurement as the second tier for confirmation. The TSH cutoff started at 90 mIU/L, decreasing to the actual 10 mIU/L. The coverage of the screening program has increased rapidly; although voluntary, it reached about 90% in 6 years and became universal in 10 years. Guideline and cutoff updates led to the identification of over 200 additional cases, resulting in specific retesting protocols for preterm and very-low-birth-weight babies. The actual decision tree considers CH when TSH levels are above 40 mIU/L. Data from the CH screening also provide an indication of the iodine status of the population, which is presently indicative of iodine insufficiency. The Portuguese neonatal screening for CH is a history of success. It has rapidly and continuously adapted to changes in knowledge and has become a universal voluntary practice within a few years.

Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.

To analyze the results of neonatal screening for congenital hypothyroidism (CH) and hyperphenylalaninemia (HPA) in Zhejiang province from 1999 to 2022. A total of 11 922 318 newborns were screened from September 1999 and December 2022 in Zhejiang province. The blood thyroid stimulating hormone (TSH) levels were measured by a fluorescence method and blood phenylalanine (Phe) levels were measured by fluorescence method or tandem mass spectrometry. TSH≥9 μIU/mL was considered positive for CH, while Phe>120 μmol/L and/or Phe/Tyr ratio>2.0 were considered positive for HPA. The positive newborns in screening were recalled, and the gene variations were detected by high-throughput sequencing and MassARRAY tests. The overall neonatal screening rate during 1999-2022 was 89.41% (11 922 318/13 333 929) and the screening rate was increased from 6.46% in 1999 to 100.0% in 2022. A total of 8924 cases of CH were diagnosed among screened newborns with an incidence rate of 1/1336. A total of 563 cases of HPA were diagnosed, including 508 cases of classic phenylketonuria (cPKU) and 55 cases of tetrahydrobiopterin deficiency (BH4D), with an incidence rate of 1/21 176. Ninety-seven out of 8924 cases of CH underwent genetic analysis. Gene mutations were detected in 9 CH related genes, the highest frequency mutations were found in DUOX2 gene (69.0%) with c.3329G>A (p.R1110Q) (18.2%) and c.1588A>T (p.K530X) (17.3%) as the hotspot mutations. There were 81 PAH gene variants detected in a total of 250 cases of cPKU, and c728G>A (p.R243Q) (24.4%), c.721C>T (p.R241C) (15.0%) were the hotspot mutations. Meanwhile 7 novel variants in PAH gene were detected: c.107C>A (p.S36*), c.137G>T (p.G46V), c.148A>G(p.K50E), c.285C>T (p.I95I), c.843-10delTTCC, exon4-7del and c.1066-2A>G. There were 12 PTS gene variants detected in 36 cases of BH4D, and c.259C>T (p.P87S) (31.9%) was the hotspot mutation. The incident of CH has increased from 1999 to 2022 in Zhejiang province, and it is higher than that of national and global levels; while the incidence of HPA is similar to the national average. DUOX2 gene variation is the most common in CH patients; c.728G>A (p.R243Q) is the hotspot mutation in cPKU patients, while c.259C>T (p.P87S) is the hotspot mutation in BH4D patients.

Neonatal screening for congenital hypothyroidism in Sweden 1980-2013: effects of lowering the thyroid-stimulating hormone threshold.

This study aims to evaluate the neonatal screening for congenital hypothyroidism (CH) and the diagnosis CH in the national health registers and to study the effects of lowering screening thyroid-stimulating hormone (TSH) threshold on the incidence of CH and birth characteristics of screening positive and negative CH children. This is a nationwide register-study of all children (n = 3 427 240) in the Swedish Medical Birth Register (MBR) and national cohort for screening positive infants (n = 1577) in 1980-2013. The study population was further linked to several other Swedish health registers. Evaluation of the CH screening and CH diagnosis was performed with levothyroxine use in the first year of life as reference. The incidence of CH was estimated by the Clopper-Pearson method. Regression models were used to study associations between CH and birth characteristics. The neonatal CH screening had high efficacy, but 50% of all children with a CH diagnosis were screening negative. The incidence of screening positive CH increased (1/3375 to 1/2222), and the incidence of screening negative CH decreased (1/2563 to 1/7841) after lowering the TSH screening threshold in 2009. Screening negative CH was associated with female sex, twinning, prematurity, low birth weight, birth defects, and need of neonatal intensive care, and 42% had transient disease. Despite high efficacy of the CH screening, 50% of children diagnosed as CH was screening negative. Although other factors influencing the incidence of the CH diagnosis cannot be ruled out, the incidence of screening negative CH decreased with lowering of the TSH threshold. Birth characteristics differed between screening positive and negative CH.

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism

ObjectivesTo describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education. MethodsObservational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III). Estimated FSIQ scores are described and correlated with prognosis determinants. ResultsMedian T4 at diagnosis was 2.8 μg/dL (0.0–16.5), the median age at the start of treatment was 18.5 days (3–309). Maternal education (n = 445): 2.7% of illiteracy, 59.8% with basic education. Estimated FSIQ scores were 88.0 (±11.8) in WPPSI-R (age 5.6 ± 0.5 years) and 84.1 (±13.0) in WISC-III (age 9.1 ± 1.4 years). The intellectual deficit was identified in 11.6%. Correlation between age at the start of treatment and estimated FSIQ was found only in the WPPSI-R test (p = 0.02). Initial T4 and maternal education significantly correlated with estimated FSIQ scores in both tests, with the latter being the most important determining factor. ConclusionsIn this large cohort of mainly low socioeconomic status children, most children achieved normal cognitive levels; however, a significant percentage presented with below-average estimated FSIQ scores and intellectual deficits. Maternal education was the main determining factor in cognitive level followed by hypothyroidism severity.

Neonatal screening for congenital hypothyroidism (CH) in preterm infants. Is a targeted strategy required?

Premature infants are at higher risk of developing congenital hypothyroidism (CH) but the neonatal screening strategy for this population is still debatable. The purpose of this retrospective study is to describe the results of a screening program for CH in a preterm infant cohort. All preterm newborns who underwent neonatal screening in the Italian region of Piedmont in the period January 2019 - December 2021, were included in this retrospective cohort study. The first TSH measurement was performed at 72h, while the second at 15 days of life. Infants with TSH >20 mUI/l at first detection and >6 mUI/l at second were recalled for a full evaluation of thyroid function. During the study period, 5930 preterm newborns were screened. Based on birth weight (BW), the mean TSH was 2.08±0.15 for BW<1000 g, 2.01±0.02 for BW 1001-1500 g, 2.28±0.03 for BW 1501-2499 g and 2.41±0.03 mUI/l in normal-weight newborns (p<0.005) at the first detection, with a significant difference observed at the second measurement (p<0.005). Based on gestational age, the mean TSH at first detection was 1.71±0.09 mUI/l for extremely preterm babies and 1.87±0.06, 1.94±0.05 and 2.42±0.02 mUI/l for very preterm, moderately, and late preterm infants (p<0.005), respectively. Significant between-group differences of TSH measurements were also at the second and third detections (p < 0.005 and p = 0.01). The 99% reference range in this cohort overlapped with the recommended TSH cut-offs for screening recall (8 mUI/l for first detection and 6 mUI/l for second detection). CH incidence was 1:156.Of the 38 patients diagnosed with CH, a eutopic gland was present in 30 (87.9%), with CH transient in 29 (76.8%). We observed no significant difference in the recall rate between preterm and at term infants screened in this study. Our current screening strategy therefore appears effective in avoiding misdiagnosis. CH screening approaches vary among countries. Development and testing of a uniform multinational screening strategy is needed.

Neonatal Screening for Congenital Hypothyroidism through Dried Blood Spots: A Cross-sectional Study

Introduction: Congenital Hypothyroidism (CH) is defined as the partial or complete loss of thyroid gland function present at birth. During the first 2-3 years of life, thyroid hormone plays a crucial role in brain development. If a baby is born with a deficiency of thyroid hormone (CH) and is not diagnosed and treated appropriately, it can lead to intellectual disability and growth retardation in the affected child. Aim: To screen newborns for CH using Dried Blood Spot (DBS) sampling. Additionally, the study aimed to compare mean TSH values between two comparison groups based on gender, birth weight, gestational age, and type of delivery. Materials and Methods: This cross-sectional study was conducted at Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India, from November 2021 to October 2022. A total of 250 live-birth newborns delivered either by Spontaneous Vaginal Delivery (SVD) or Lower Segment Caesarean Section (LSCS) were included in the study after obtaining written informed consent from their parents. Blood samples were obtained on DBS cards through heel prick in all newborns. TSH levels were assessed using a neonatal TSH sandwich ELISA kit. The cut-off value of TSH to label as screen positive was set at &gt;20 mIU/L. A two-tailed Independent t-test was performed to compare mean TSH values between the two comparison groups based on gender, birth weight, gestational age, and type of delivery. Results: Out of the 250 babies, 137 (54.8%) were male and 113 (45.2%) were female. The gestational age ranged from a minimum of 29 weeks to a maximum of 41 weeks in both male and female babies. TSH levels in male babies ranged from 0.16 mIU/L to 10.27 mIU/L, with a mean value of 3.98±2.16 mIU/L. TSH levels were below 20 mIU/L in all 250 newborns, indicating negative screening results for CH in all the neonates. Conclusion: The results concluded that the serum levels of TSH obtained through heel prick were not statistically significant in both term and preterm newborns, as well as in Normal Birth Weight (NBW) and Low Birth Weight (LBW) newborns. Furthermore, there was no significant difference based on the type of delivery (SVD/LSCS) or the gender of the newborn (male or female).

ODP385 False Negative in the Screening for Congenital Hypothyroidism in Twin Newborns

Abstract Background In the neonatal screening for congenital hypothyroidism, false negative cases can be recorded, as evidenced in some twin newborns of the same sex, presumably due to fetal blood exchange. Clinical Case Neonate obtained by caesarean section indicated for twin pregnancy. The newborn and his twin, both male, presented normal TSH values (&amp;lt;10 mlU/L) in the neonatal screening for congenital hypothyroidism; but in the second screening, routinely performed in newborns obtained from twin or multiple pregnancies, in the second week of life, a TSH level of 27 mlU/L was evidenced in the newborn; the free T4 value was analyzed and was found to be low. With the diagnosis of congenital hypothyroidism, therapy with levothyroxine was started. Conclusion It is important to carry out a second neonatal screening for congenital hypothyroidism in cases of multiple pregnancy, especially twins of the same sex, in the second week of life, to avoid possible false negatives TSH values. Presentation: No date and time listed

Neonatal thyrotropin - indicatior of monitoring of iodine deficiency severity. What's level is considered a «cutoff point»?

The issues of monitoring the effectiveness of iodine deficiency prevention programs are an important component in the process of iodine elimination. Neonatal thyrotropin (TSH) has been used as a criterion for the severity of iodine deficiency since 1994, however, the question of the "cut-off point" of the neonatal TSH level has been widely discussed in the recent literature. Evaluate the criterion for neonatal hyperthyroidism above 5 mIU/l from the perspective of monitoring iodine deficiency and establish a «cut-off point» on the model of healthy pregnant women with adequate iodine status. A prospective study was conducted in a population of pregnant women in the city of Tyumen, with the formation of observation groups according to the level of iodine excretion in the urine - the main group (with adequate iodine status throughout the entire gestation period) and the comparison group (women with iodine levels less than 150 μg/l). The results of neonatal screening for congenital hypothyroidism in children of women participating in the study were evaluated. The frequency of neonatal TSH above 5mIU/l was assessed in the observation groups. ROC-analysis was performed and a «cut-off point» of the level of neonatal TSH was established as an indicator of iodine deficiency. The median urinary iodine concentration in the population of pregnant women in Tyumen was 159.05 μg/l, the incidence of goiter was 0.38%, the incidence of neonatal hyperthyroidism above 5 mIU/l was 2.88%, which characterizes adequate iodine intake in the pregnant population women. The frequency of neonatal TSH above 5 mIU/l in newborns from women from the main group was 1.47%, and in the comparison group - 9.3% (p = 0.076). ROC analysis revealed a threshold value of neonatal TSH of 2.77 mIU/l at the cut-off point, which corresponded to the highest value of the Youden index. Urinary iodine concentrations greater than 150 μg/l were predicted for nTSH values below this value. Analysis of databases of neonatal screening for congenital hypothyroidism makes it possible to effectively, quickly and at minimal cost annually assess the iodine status in the population. The established «cut-off point» of neonatal TSH in the model of healthy pregnant women with adequate iodine intake in our work is 2.77 mIU/l, the absence of statistically significant differences in the incidence of neonatal hyperthyroidism above 5 mIU/l from women with different iodine status during pregnancy indicate the need to revise the existing threshold of 5 mIU/l and may be an incentive to conduct large-scale studies in regions with different iodine supply.

Benefits of rescreening newborns of mothers affected by autoimmune hypothyroidism.

IntroductionInfants of mothers with autoimmune hypothyroidism (AH) are at risk of developing late-onset hypothyroidism, often escaping at newborn screening. This condition might be caused both by the action of maternal antibodies and/or by maternal treatment.ObjectivesThe aim of this study is to evaluate the prevalence of AH in the mothers of children born in Veneto region, Italy, and to define what is the most appropriate management for these newborns.MethodsNewborns of six different hospitals with a mother suffering from AH and with negative neonatal screening for congenital hypothyroidism (CH) were included in the study. Between 15 and 20 days of life, we collected a serum sample for the evaluation of thyroid function (thyroid-stimulating hormone (TSH), free thyroxine (FT4), free triiodothyronine (FT3)) and anti-thyroid antibodies. On the same occasion, a capillary blood sampling was performed for a second screening test.ResultsMaternal AH has a prevalence of 3.5%. A total of 291 newborns were enrolled from November 2019 to May 2021. Whereas the 11.4% of infants had a slight elevated serum TSH (>6 mU/L) and required a follow-up, only 2 children presented an elevated TSH level at the second screening test. One of these, with the gland in situ, showed persistently elevated serum TSH levels and required treatment with levothyroxine.ConclusionsMaternal AH rarely caused neonatal thyroid dysfunction. We suggest to reassess newborns from mothers with AH 15 days after birth by means of a second neonatal screening test. This procedure avoids false negatives due to maternal thyroid status, is less invasive and cheaper than the serum TSH evaluation, and prevents a long follow-up.

Adult and neonate TSH blood spot reference intervals.

Background: Neonatal congenital hypothyroidism screening is performed by measuring thyroid-stimulating hormone (TSH) in a dried blood spot (DBS) sample, whereas acquired hypothyroidism uses serum TSH. There is no established DBS TSH reference interval, but knowing this is useful, as some patients cannot tolerate venepuncture, so DBS collection is seen as an acceptable alternative. The aim of this study was to establish DBS TSH reference intervals in adults and neonates (day 5-8), and determine the relationship between serum and DBS TSH.Methods: Euthyroid adults, not on thyroid medication and with a normal haematocrit, were selected. If they had a paired lithium heparin sample, DBS were prepared by spotting 50µL of whole blood onto filter paper. Dried blood spot TSH was measured using the PerkinElmer Neonatal hTSH kit on the GSP instrument and serum using the Abbott Architect assay. The relationship between DBS and serum TSH was analysed using Passing-Bablok regression and the adult DBS TSH reference interval calculated using transformed data. The neonatal reference interval was calculated from screening results using the non-parametric method.Results: Overall, 109 adult samples were included in the study (61 female). The Passing-Bablok regression was: DBS TSH = 0.68 × serum TSH + 0.07, and reference interval was 0.49-3.07 mU/L. The neonatal DBS reference interval was 0.40-4.10 mU/L from 8351 results.Conclusion: This study derived adult and neonate TSH DBS reference intervals using the GSP analyser and established the relationship between serum and DBS TSH. Knowing this information will allow for improved interpretation of DBS TSH results.

Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience.

Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nervous system. However, overtreatment may have a potential negative impact on further neurodevelopment. We retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021. We evaluated the diagnostic process and treatment up to the age of 3 years. We compared groups of children from the first and the second screening groups (FSG, SSG) in the neonatal screening with an evaluation of ultrasound examination (thyroid dysgenesis vs. gland in situ, GIS). The overtreatment and undertreatment risks were assessed and an analysis of the new TSH thresholds was performed. Treatment was implemented at a median of 9 days of life (3 – 27); 8 days (3 – 17) in FSG and 19 (6 – 27) in SSG. The dose of L-T4 differed between FSG and SSG at all three analysed time points (start of the therapy, 12 months, and 3 years) with significantly higher doses in FSG. The same was observed for the patients with thyroid dysgenesis vs. GIS. Screening TSH level was ≥ 28mIU/l in 91.7% of patients with thyroid dysgenesis in comparison to 74.0% of patients with GIS (p= 0.038). The optimally treated group (fT4 in the upper half of the reference range, according to the guidelines) was up to 58.0% of the children during the follow-up. The risk for overtreatment was present in 1/5 of the study group after 12 months and 1/4 after 3 years of L-T4 therapy. Analysis of new TSH thresholds showed an increased prevalence of mild hypothyroidism, GIS, and either euthyroid state or overtreatment while treating with lower L-T4 doses in comparison to the rest of the cohort. The study confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy. The suspected overtreatment after the first 12 months of L-T4 therapy requires consideration of the earlier diagnosis re-evaluation.

Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening.

To investigate the clinical features and outcomes of children with congenital hypothyroidism (CH) missed by neonatal screening. The clinical and laboratory date of 31 children with CH missed by neonatal screening from February 2015 to February 2022 in Guangzhou Women and Children's Medical Center were retrospectively analyzed. Whole-exome high-throughput sequencing analysis was performed in 17 patients. Among the 31 patients, 19 cases (61.3%) were preterm, 12 cases (38.7%) were term neonates. The median value of gestation age was 36 (26-40) weeks, birth weight was 2.35 (0.75-3.70) kg, diagnosed age was 20 d (7 d-4 years), dry blood spot thyrotropin was 4.18 (0.34-8.97) mU/L. Nine cases (29.0%) were same-sex twins and 4 cases (12.9%) had a family history of hypothyroidism. The initial clinical symptoms were growth retardation in 11 cases (35.5%), prolonged jaundice in 7 cases (22.6%), short stature, abdominal distension, fetal edema and goiter in 1 case (3.2%), respectively. Genetic analysis of the 17 children showed that DUOX2 gene mutations were detected in 10 cases (6 cases with biallelic mutations and 4 cases with monoallelic mutations), of whom 3 had a family history of hypothyroidism. A total of 22 patients were reevaluated at the age of 2-3 years, of whom 17 cases (77.3%) were transient CH and 5 cases (22.7%) were permanent CH. Among the 10 cases with DUOX2 gene mutations, 6 cases were transient CH, 1 case was permanent CH, and 3 cases (< 3 years old) were still under treatment with L-thyroxine. False negative results on neonatal screening for CH often occurs in preterm birth, low birth weight, same-sex twins, family history of hypothyroidism, and DUOX2 defects are the common molecular pathogenesis, most of whom are transient CH. Thyroid function should be evaluated in time for children with unexplained slow growth and delayed jaundice regression.

Effectiveness of neonatal screening for congenital hypothyroidism

Introduction: Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. Newborn screening program considerably increases probability of CH diagnosis and treatment. Objectives: We aimed to investigate the efficacy of running CH screening program to maintain normal IQ and physical growth of hypothyroid children in Semnan city. Patients and Methods: This study was performed on children with definite CH who were treated and followed up in Semnan health centers. Around 41 children born within 2008-2013 (minimum three years of age) participated. Respective weight and height for age were measured. The Z-scores were calculated based on the WHO-Anthro-Anthro Plus Software. Intelligence Quotient (IQ) was measured with Wechsler Intelligence Score for children-revised (WISC-R). Data analyzed with one-tailed t test compared with age and gender-matched group. Results: The mean IQ Score in our study group was 90.09 (1.73) with no significant difference compared to healthy counterparts (P &gt; 0.05). Z-score for weight and height was -0.46 and -0.45 prospectively and was not significantly different from normal children. Conclusion: Newborn screening program for CH has been effective in preventing mental retardation and growth failure.

CONGENITAL HYPOTHYROIDISM BY ATHYREOSIS About a new case from the Dysmorphology, Congenital and Developmental Anomalies Unit

&nbsp;The objective of this work is to contribute to the promotion of neonatal screening for congenital hypothyroidism in our daily practice. In the Kingdom of Morocco, neonatal screening is in the process of generalization, but some newborns escape this screening activity. The authors report the case of a female infant aged 14 months, resulting from a pregnancy followed and carried to term in a maternity hospital. She presented with a delay of psychomotor acquisitions with chronic constipation, macroglossia and respiratory difficulties.&nbsp; The clinical examination found a staturoponderal delay, facial puffiness, a hoarseness of the voice, an umbilical hernia and a psychomotor delay concerning the holding of the head and the sitting position. The biological assessment showed a deep peripheral hypothyroidism. The cervical ultrasound showed the absence of thyroid gland visualization. Thyroid scintigraphy with Tc99m showed the total absence of fixation of the tracer at the level of the thyroid lodge, absence of ectopic focus at the level of the axis of the thyroglossal tract. The bone age was in favor of the bone age of a newborn. Through this case, the authors underline the importance of carrying out neonatal screening for congenital hypothyroidism&nbsp; by all physician taking care&nbsp; all newborns while awaiting the generalization throughout the Morocco. All this, to avoid the serious and avoidable complications of this disease. &nbsp

Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study

IntroductionCongenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases.ObjectivesAims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH.Materials and methodsThe TSH threshold of the neonatal screening was established as ≥6 mU/L of whole blood.We analysed the screening centre data in the period January 2013–April 2018, for a total number of 85.373 babies (45.7% males; 54.3% females).Results4.082 Babies (4.8%) required a second screening. Among these, 372 (0.44%) were out of range. The diagnosis of congenital hypothyroidism (CH) was confirmed in 182 babies (0.21%). 77/372 newborns (20.7%) with confirmed high TSH levels showed whole blood TSH levels ≥6 - < 7 mU/L.In synthesis, 48.9% of the out of range re-testing had a confirmed diagnosis of CH.ConclusionThe reduction of TSH cutoff to 6 mU/L allowed to identify 77/372 neonates (20.7%) with confirmed out of range TSH, otherwise not recruited by the previously employed TSH cutoff.

Consolidation of the Neonatal Screening Program as a Public Health Program in Paraguay

Abstract In Paraguay, neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) started in October 1999, in 2005 cystic fibrosis (CF) was selectively incorporated. The National Program for Neonatal Screening has a centralized laboratory that encompasses 1.132 Sample Collecting Sites (SCS) distributed in the 18 Health Regions, with over 80% coverage of live births; the incidence of CH being 1:2.060, HPA/PKU 1:6.328 and CF 1:5.671 newborns. The newborn screening program headed by the Ministry of Public Health and Social Welfare in Paraguay has been consolidated itself as a public health program. This publication describes the historic 20-year process, the strategies and activities carried out as well as the results and achievements, among which it is important to point out the achievement of newborns screening laws that make mandatory to detect, diagnose and treat those affected, as well as the human resources committed to newborn screening.

Utility of the New Indian Society of Paediatric and Adolescent Endocrinology (ISPAE) Guidelines for Congenital Hypothyroidism Screening in a High Risk Unit.

To study the new ISPAE guidelines in neonates with congenital hypothyroidism and present authors' experience in managing these neonates. A retrospective review of all babies who were screened for congenital hypothyroidism in the institution over a period of 5 y was conducted. Details pertaining to maternal risk factors, neonatal risk factors, screening TSH, venous TSH and details of etiological evaluation including: ultrasound thyroid, technetium 99m scintigraphy and anti thyroid peroxidase antibody estimation were retrieved. The cases were assessed using the new ISPAE guidelines. During the study period, 8107 babies were screened for congenital hypothyroidism, 83 cases had confirmed disease and 47 had established etiology. There is a fair correlation between screening TSH and venous TSH (r = 0.7, p < 0.05). The estimated incidence of congenital hypothyroidism in present series is 1 in 97 cases. Out of the 83 cases, 36 (43.3%), 16 (19.2%) and 31 (37.3%) cases had screening TSH >20 μIU/mL, 6-20 μIU/mL and < 6 μIU/mL, respectively. Out of the 47 babies with screening TSH <20 μIU/mL, 23 (48.9%), 25 (53.1%) and 12 (25.5%) cases had prematurity, maternal thyroid disease and illness, respectively, as risk factors (some babies had more than one risk factor). Of the 83 cases, all of them had venous TSH >10 μIU/mL and five cases had low Free T4 (<1.1ng/dl). Thus, none of the cases with congenital hypothyroidism were missed on the new ISPAE guidelines. The new ISPAE guidelines for neonatal screening for congenital hypothyroidism are very useful and applicable in Indian neonates.

Newborn screening in Nigeria: Will incorporating congenital hypothyroidism with sickle cell disease improve neonatal screening programme?

• The authors review the present status of newborn screening in Africa and discuss the concept that adding a neonatal screening for congenital hypothyroidism (CH) to an existing sickle cell disease screening would make it easier to implement than developing an independent screening program.• Structure, funding, political will and an efficient recall system are identified as being key requirements for the development of a successful neonatal screening for CH.