Screening Program For Congenital Hypothyroidism Research Articles

A Strategy to Avoid Missed Cases in a Brazilian Neonatal TSH Screening Program for Congenital Hypothyroidism

There have been reports of patients with primary hypothyroidism not identified by TSH measurement due to a presumably delayed rise in serum TSH. However, there are no data on the incidence of false negative results in neonatal screening programs employing primary TSH assay for diagnosis. To investigate the incidence of false negative results in a neonatal screening program using the primary TSH approach and evaluate a strategy to avoid misdiagnosis. 190 newborns, with initial TSH > 15.0 IU/l and < 20.0 IU/l (screening cutoff). These infants were submitted to a second TSH measurement around 30 days after the first screening. Thirty days after the first screening, four of the 190 infants (2.1%) remained with TSH levels around the cut-off screening level or higher. Of these four patients, three had an absence of thyroid gland on ultrasonography, with a final diagnosis of dysgenesis. The fourth patient had a normal shaped gland in its usual location by ultrasonography, with an outcome of transitory congenital hypothyroidism. The incidence of missed congenital hypothyroidism diagnoses in this neonatal screening program based on the TSH approach was low and acceptable. Nevertheless, with the proposed strategy, the risk of false negative results can be reduced without significant impact on the overall cost of the screening program.

Pitfalls in Screening Programs for Congenital Hypothyroidism in Premature Newborns

Sick premature infants may display transient hypothyroxinemia secondary to immaturity of the hypothalamic-pituitary axis. Therefore, early screening programs of such infants may be misleading. We present such a case report, with review of the literature and the following suggested recommendations. (1) Screening programs should report thyroid-stimulating hormone (TSH) as well as thyroxine (T(4)) levels in premature infants, which will allow the treating physicians to be aware of possible abnormality that needs to be followed. (2) Sick premature infants and other populations at risk should undergo a full serum thyroid function evaluation including free T(4) and TSH beyond the screening program at discharge or at 30 days of age, whichever comes first. (3) Physicians should use their clinical judgment and experience even in the face of normal newborn thyroid screening test and reevaluate for hypothyroidism when there is a clinical suspicion. Our case report is a reminder of the American Academy of Pediatrics guidelines with practical suggestions for extra caution to avoid missing primary hypothyroidism in sick premature infants.

Hypothyroidism and High Plasma and Urine Iodine Levels Related to the Use of Gastrografin

We report the effect of Gastrografin on thyroid function in 7 neonates. Levels of free thyroxine and thyroid stimulating hormone, serum and urine iodine concentrations were determined before and after using gastrografin. Transient hypothyroidism was seen in 3 patients. No thyroid gland dysfunction was detected in the Neonatal Screening Program for congenital hypothyroidism before the administration of Gastrografin and thyroid antibodies were negative. Urine and serum iodine concentrations were elevated after Gastrografin administration. Normal thyroid hormone concentrations were observed in the other four infants. We suggest careful evaluation of thyroid function whenever Gastrografin is used. Keywords: Thyroid hormones, TSH, thyroxine, newborn, iodinated contrast media

Role of Corticotropin-Releasing Hormone Testing in Assessment of Hypothalamic-Pituitary-Adrenal Axis Function in Infants with Congenital Central Hypothyroidism

The Dutch neonatal congenital hypothyroidism (CH) screening program detects infants with CH of central origin (CH-C). These infants have a high likelihood of multiple pituitary hormone deficiencies. ACTH deficiency especially poses an additional risk for brain damage and may be fatal. Our objective was to evaluate different tools for assessment of the integrity of the hypothalamus-pituitary-adrenocortex (HPA) axis in young infants, aiming for a strategy for reliable and timely diagnosis. This is a Dutch nationwide prospective study (enrollment 1994-1996). Patients were included if neonatal CH screening results were indicative of CH-C and HPA axis function could be tested within 6 months of birth. Nine male and three female infants with CH-C and four infants with false-positive screening results or transient hypothyroidism were included in the study. CRH test results, multiple cortisol plasma concentrations, and cortisol excretion in 24-h urine were measured. Six (50%) of the CH-C patients had abnormal CRH test results. Three of them had discordant test results: impaired increase of plasma cortisol in response to CRH, despite substantial increase of plasma ACTH. The other three infants, with concordant impaired responses of both ACTH and cortisol to CRH, had a very low urinary cortisol excretion in comparison with the subjects with normal CRH test results. The CRH test proves to be a fast and reliable tool in the assessment of HPA axis (dys)function. It enables timely diagnosis in (asymptomatic) neonates at risk for serious morbidity and mortality. The discordant response type, which has not been described before, may be an early phase of HPA axis dysfunction. Alternatively, patients with this response type may constitute a separate pathogenetic subset of HPA axis-deficient patients.

Programa de triagem neonatal para hipotireoidismo congênito no nordeste do Brasil: critérios diagnósticos e resultados

It was evaluated the concentration of TSH in blood spot (TSHneo) of 48,039 children included in the Neonatal Screening Program (NSP) for Congenital Hypothyroidism (CH) of Sergipe (SE), a state in the northeast of Brazil. It was also evaluated the concentration of serum TSH, total T4 and free T4 in the recalled children suspicious of having CH, their age in several phases of the program, the covering and frequency of the NSP in the cases from January 2005 to August 2006, comparing them with literature data. The following parameters were used or the analysis: mean, standard deviation, median, coefficient of variation and frequency distribution. The children's age at the collection in filter-paper specimen was 10 +/- 9 days (mean+/-SD) and the TSHneo execution assay was done in the period of 31 +/- 13 days. In 2005 the covering by the NSP was about 77% in the countryside and 73% in Aracaju, the capital of Sergipe. It was verified that in 99.484% of the children included in the screening, the TSHneo varied from 0,01 to 5.20 microU/ml, decreasing according to the age and stabilizing when they were between 11 and 15 days. 248 children were recalled from the TSHneo (1/194).The concentrations of TSH, T4 and free T4 collected by venous puncture were normal in 119 children (1/404). The frequency of suspected CH was 1/485 (99 cases), of CH was 1/6005 (8 cases) and of hypothyroxinemia was 1/16013 (3 cases). Therapy for CH began within 51 +/- 12 days.

Mutations in the Iodotyrosine Deiodinase Gene and Hypothyroidism

DEHAL1 has been identified as the gene encoding iodotyrosine deiodinase in the thyroid, where it controls the reuse of iodide for thyroid hormone synthesis. We screened patients with hypothyroidism who had features suggestive of an iodotyrosine deiodinase defect for mutations in DEHAL1. Two missense mutations and a deletion of three base pairs were identified in four patients from three unrelated families; all the patients had a dramatic reduction of in vitro activity of iodotyrosine deiodinase. Patients had severe goitrous hypothyroidism, which was evident in infancy and childhood. Two patients had cognitive deficits due to late diagnosis and treatment. Thus, mutations in DEHAL1 led to a deficiency in iodotyrosine deiodinase in these patients. Because infants with DEHAL1 defects may have normal thyroid function at birth, they may be missed by neonatal screening programs for congenital hypothyroidism.

The implementation of revised guidelines and the performance of a screening programme for congenital Hypothyroidism

To see whether revised screening standards and health-professional training are associated with changes in the performance of a neonatal screening programme for congenital hypothyroidism (CHT). Screening data from the regional screening service in Durham and Newcastle, which covers north-east England and North Cumbria. We assessed the timing of the different stages of the screening process leading up to the introduction of the revised guidelines between April 2004 and March 2005 (year 1) and afterwards between April 2005 and March 2006 (year 2) in all babies notified as having CHT. We also assessed the interval between sampling and specimen arrival in the laboratory at the beginning and end of year 2 in all babies screened. Twenty-three babies tested positive or borderline in year 1 and 18 babies in year 2. There was reduced variability in the overall time from birth to notification in year 2 versus year 1 (P = 0.001). This reduction was a consequence of a reduced interval between sample collection and arrival in the laboratory (P = 0.047) and for the laboratory to notify the positive test result (P = 0.003). There was a reduction in the mean time from sampling to receipt by the laboratory in the 2997 babies screened in the final month compared with the 2498 babies screened in the first month of year 2 (P = 0.01). There was an improvement in neonatal screening programme performance around the time that revised neonatal screening guidelines were introduced. This highlights the importance of ongoing education and training for those involved in screening programmes.

Hipotireoidismo neonatal transitório causado pelo uso de amiodarona durante a gestação: relato de dois casos e revisão da literatura

Amiodarone (AMD) is an antiarrhythmic agent which contains 37% of iodine. It can reach the fetus by transplacental passage and induce transient congenital hypothyroidism (TCH). We report two cases of TCH caused by gestational exposure to AMD, detected by the Newborn Screening Program for Congenital Hypothyroidism of the State of Paraná-Brazil. CLINICAL CASE 1 (C1): Neonatal TSH value was 78.2 mU/L (normal<15 mU/L). AMD had been given to the mother during pregnancy to treat maternal arrhythmia. The screening results were confirmed by serum thyroid function tests. Levothyroxin (L-T4) (50 microg/day) was started on the first visit, on the 14th day of life (dl). CLINICAL CASE 2 (C2): Neonatal TSH value was 134.0 mU/L. AMD had been given to the mother in the third trimester of pregnancy to treat maternal arrhythmia. The screening results were confirmed by serum thyroid function tests: L-T4 (50 microg/day) was started on the first visit, with 13 dl. TSH and T4 normalized on 51 dl (C1) and 36 dl (C2); L-T4 could be diminished gradually and stopped within 16 months (C1) and 10 months (C2). They were followed-up until 22 months (C1) and 16 months (C2) with normal thyroid function tests. Their growth and mental development, evaluated by the Cognitive Adaptive Test/Clinical Linguistic & Auditory Milestone Scale (CAT/CLAMS test), were normal. Evaluation of thyroid function and mental development should be performed if AMD is used during pregnancy. Treatment of TCH must be started as soon as the diagnosis is made.

Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics.

In Sapporo, Japan, a neonatal screening program for congenital hypothyroidism (CH) has employed measurement of free thyroxine (T4) and TSH in the same filter-paper blood spot. This system has enabled us to identify primary CH and central CH during the neonatal period. The aim of this study was to clarify the prevalence and clinical characteristics of central CH. For this purpose, the screening program requested serum from infants with free T4 concentrations below the cut off value regardless of the TSH levels. Between January 2000 and December 2004, 83,232 newborns were screened and six central CH patients were detected as a result of follow-up of low free T4 and non-elevated TSH screening (1:13,872). This frequency is higher than in other studies. Four patients showed multiple pituitary hormone deficiency with pituitary malformations on magnetic resonance imaging. One patient was diagnosed as having Prader-Willie syndrome. The remaining patient was considered to have isolated central CH. Our study demonstrated that the frequency of central CH is 1:13,872. Free T4 measurement would also be advantageous in early recognition of multiple pituitary hormone deficiency.

Cord Blood Thyroxine and Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism: How Useful Are They?

To determine and compare the usefulness of cord blood screening for free thyroxine (FT4) and thyroid stimulating hormone (TSH). There is a vast amount of literature on capillary heel prick screening tests, but relatively little on cord blood testing particularly FT4. For a decade all infants born at Tawam Hospital had cord blood FT4 and at Oasis Hospital cord TSH measured through the hospital-based screening programme. On January 1st 1998, the national screening programme (NSP) for congenital hypothyroidism (CH) in the United Arab Emirates (UAE) started using capillary TSH measurement (Delfia method). Since then newborns in both hospitals have been screened both ways, i.e. cord blood and capillary blood screening. We reviewed retrospectively all infants born from January 1998 until the end of June 2004 with CH who had double screening: cord FT4 or TSH and 4th-5th day TSH screening. Thirteen infants (one in 1,778) had CH in Tawam Hospital. In six of these the cord blood FT4 was low (<9.1 pm/l) (0.73 ng/dl) and in seven the cord blood FT4 was normal, i.e., over half were missed. Eight infants (one in 1,198) had CH in the Oasis Hospital. Cord blood TSH was high in six of them (>13 IU/l) and two were normal. Cord FT4 detected the most severe cases, but missed most others. Cord TSH detected six out of eight cases, but there was a recall rate of one in 23. Cord FT4 identifies only infants with severe CH. Cord TSH is more sensitive than cord FT4 screening. Capillary TSH dried blood spot testing on the 3rd-5th day is the most sensitive method.

Early Assessment of Hypothalamic-Pituitary-Gonadal Function in Patients with Congenital Hypothyroidism of Central Origin

Early recognition of gonadotropic dysfunction could enable well-timed growth and maturation and prevent damage to gonads and external genitalia. The adaptation of the Dutch neonatal screening program for congenital hypothyroidism in the mid 1990s resulted in enhanced detection of congenital hypothyroidism of central origin (CH-C), with high likelihood of multiple pituitary hormone deficiency, including gonadotropin (Gn) deficiency. We analyzed GnRH test results and baseline Gn and sex hormone measurements in 15 infants with CH-C to examine these diagnostic tools for assessment of the integrity of the hypothalamus-pituitary-gonad axis in young infants. In a nationwide prospective study (1994-1996), patients were referred to our department if neonatal CH screening results were indicative of CH-C. When CH-C was confirmed, GnRH tests and baseline Gn and sex hormone measurements took place at the age of 3 months, when euthyroid status had been accomplished by T4 supplementation, and if necessary, cortisol supplementation was installed. The study took place at the Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam (referral center). The study included 15 neonates (five girls and 10 boys) with CH-C, detected by neonatal screening, in whom investigation of the hypothalamus-pituitary-gonad axis could be performed at 3 months of age. Results of GnRH tests and baseline Gn and sex hormone measurements were assessed. GnRH tests at 3 months of age showed a pattern indicative of endogenous GnRH stimulation in nine infants and a blunted response in six. Baseline Gn and sex hormone concentrations except estradiol (P = 0.053) were significantly different between responders and nonresponders. The GnRH test and baseline measurements of Gn and sex hormone serum concentrations at 3 months of age are promising options in the assessment of hypothalamic-pituitary-gonadal function in infants with CH-C of both sexes.

Tc]-99m Thyroid Scintigraphy in Congenital Hypothyroidism Screening Program

The aetiology of congenital hypothyroidism (CH) may be important in determining disease severity, outcome and treatment schedules because athyroid patients need higher treatment doses and close monitoring particularly early in life. The aim of this study was to evaluate thyroid scintigraphy (TS) findings in infants with CH and to determine the relationship of serum TSH and T4 values with thyroid agenesia, in an attempt to identify factors that may detect thyroid agenesia before treatment. Since August 2002 to April 2005, screening program for CH was carried out in the Isfahan University of Medical Sciences and Health Services, Isfahan, Iran. Screening was performed by measuring both the serums T4 and TSH concentration at day 3-7 of birth. Full-term newborns were recalled based on a serum TSH >20 mIU/l or serum T4 < 6.5 microg/dl and premature newborns based on T4 level by weight and TSH level by age. After repeating the laboratory test and clinical evaluation, Tc-99m TS was recommended for all infants with suspected CH before thyroxin replacement therapy. On the basis of Tc-99m TS, the thyroid gland was classified as normal scan, ectopic, goiter and athyrosis. TS results were compared with serum T4 and TSH levels. Of 93 381 newborns screened over a period of nearly 3 years, 262 neonates were found to have CH. The overall incidence of CH was 1 : 357 live births with a female/male ratio (F/M) of 1.4/1. Thyroid scan was performed on 116 (54%) of the infants with CH; of them, 33 cases (28.4%) were athyrotic (F/M = 0.8/1) while seven infants (6%) had ectopic thyroid (F/M = 1.3/1) and 76 cases (65.6%) had a normal thyroid scan (F/M = 1.5/1). Infants with the absence of thyroid in TS had significantly higher TSH value in comparison with those with ectopic or normal TS (116.3 +/- 109.64 vs. 108.10 +/- 62.92 or 55.35 +/- 48.26 mIU/l, respectively, P < 0.0001). Although not statistically different, the mean T4 level was higher in normal TS group than in ectopic and athyrotic groups (8.03 +/- 3.48 vs. 6.36 +/- 5.57 or 5.04 +/- 3 microg/dl, respectively, P = 0.09). We conclude that Tc-99m TS is a useful diagnostic tool for the initial investigation of suspected CH and considering the correlation of TS results with blood TSH levels, proper management and close monitoring of hypothyroid infants with severe hormonal alterations is necessary for the detection of thyroid agenesia.

Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979–2003

Aim: To assess the Scottish newborn screening programme for congenital hypothyroidism from 1994 to 2003 (period 2) for performance and compare with an initial audit covering 1979 to 1993 (period...

Neonatal Thyrotropin as Measured in a Congenital Hypothyroidism Screening Program: Influence of the Mode of Delivery

Many developed countries are reexperiencing iodine deficiency. One World Health Organization index of iodine deficiency in populations is the percentage of neonates with TSH levels greater than 5 mIU/liter 72 h after delivery. Measured TSH levels vary with methodology and are influenced by external factors including iodine exposure at time of delivery. We wished to determine whether babies delivered by cesarean section have higher levels of TSH than babies delivered vaginally because this factor could influence determination of iodine deficiency. This was a cohort study of mothers delivering at a teaching hospital in 2002-2003 and their babies. Women delivering a live infant were eligible for the study. Demographic data, mode of delivery, and subsequent routine newborn screening TSH levels were recorded. Of 2031 infants, 31.2% were delivered by cesarean section; 1864 babies were born after 37 wk, with blood samples collected by d 5 (>91% on d 3). Significant predictors of TSH concentration were the day TSH was measured and type of delivery. The distribution curve of TSH values was right shifted in infants born by cesarean section. The percentage of neonates born by cesarean with at TSH value greater than 5 was 7.1%. The figure for those born vaginally was 4.3%. Babies delivered by cesarean section are significantly more likely to have TSH levels greater than 5 mIU/liter on d 3 than those delivered vaginally. With the rise in the rate of births by cesarean, this could be an important factor in assessing population iodine deficiency using neonatal TSH levels.

Congenital hypothyroidism with gland in situ: Diagnostic re-evaluation

In the past, most congenital hypothyroidism (CH) children with thyroid gland in situ were considered to be affected by hormonogenesis defect. Nowadays, the improved sensitivity of neonatal screening, novel insights into the pathogenic mechanisms and the advances of genetic analyses have reopened the discussion about the etiology of CH with thyroid in situ. We report the etiological re-evaluation of 31 children with thyroid in situ, who had been identified by the CH screening program. The purposes of this re-evaluation were: a) to investigate the definitive diagnosis and pathogenetic mechanism of CH with thyroid in situ in eligible children suspected of dyshormonogenetic defect and b) to verify the adequacy of the treatment schedules. Thirty out of 31 children were affected with permanent hypothyroidism and only one child was euthyroid at re-evaluation (transient CH). Thyroid hormone organification defects were present in less than half of the CH patients with thyroid in situ (13/30); a higher prevalence of partial defects of iodine organification than severe or complete forms was found. An inactivating TSH-receptor gene mutation was found in only one patient without iodine organification defect. Some questions remain unanswered concerning the adequacy of the schedules of treatment, particularly about the proper treatment of mild and borderline forms of CH.

Neonatal Detection of Congenital Hypothyroidism of Central Origin

Due to the high frequency of concurrent pituitary hormone deficiencies, congenital hypothyroidism (CH) of central origin (CH-C) is a life-threatening disorder. Yet only a minority of these patients are detected by neonatal CH screening programs worldwide. We conducted a prospective multicenter study involving a 2-yr cohort of neonatally diagnosed CH-C patients to determine whether a T(4)-TSH-based neonatal CH screening protocol extended with T(4) binding globulin determinations improves early detection of CH-C and to assess the extent of pituitary hormone deficiency among the identified CH-C patients. In all infants with screening results indicative of CH-C, the functional integrity of the hypothalamo-hypophyseal system was investigated by dynamic tests; the anatomical integrity was investigated by magnetic resonance imaging. Initial test results were evaluated after 5 yr of follow-up. Among 385,000 infants screened over the 2-yr period, 19 cases of permanent CH-C were detected (prevalence, 1:20,263; 95% confidence interval, 1:12,976 to 1:33,654), representing 13.5% of all detected cases of permanent CH. The majority (78%) had multiple pituitary hormone deficiency, whereas 53% had pituitary malformations on magnetic resonance imaging. We conclude that infants with CH-C can very well be detected by neonatal screening. The estimated prevalence and the severity of pituitary dysfunction of this treatable disorder call for explicit attention for this entity of CH in neonatal screening programs worldwide.

Screening for haemoglobinopathies

The NHS Plan in July 2000 outlined a commitment to the implementation of a linked newborn and antenatal screening programme for sickle cell and thalassaemia for England. Implementation of the newborn screening programme for sickle cell disorders is now underway and already half of all babies born in England are being offered screening as part of the existing bloodspot screening programme for phenylketonuria and congenital hypothyroidism. The programme will cover all babies by March 2005. Antenatal screening will be offered, either on a universal basis in high prevalence areas by March 2005, or as selective screening in low prevalence areas by March 2006. The implementation of both the antenatal and neonatal screening programmes has focused on training midwifery and primary care staff to prepare them for this development. As neonatal screening will not be effective without careful follow-up of affected infants, the programme has also highlighted the need for standards of clinical care and training of paediatricians, particularly in low prevalence areas. Sickle cell disease is a variable and unpredictable condition and paediatricians will need to prevent complications as well as recognize and treat emergencies which can be life threatening. Clinical networks of local and more specialist centres will be needed to support the management of these children and ensure complete follow-up of infants diagnosed on the screening programme. The NHS Plan in July 2000 outlined a commitment to the implementation of a linked newborn and antenatal screening programme for sickle cell and thalassaemia for England. Implementation of the newborn screening programme for sickle cell disorders is now underway and already half of all babies born in England are being offered screening as part of the existing bloodspot screening programme for phenylketonuria and congenital hypothyroidism. The programme will cover all babies by March 2005. Antenatal screening will be offered, either on a universal basis in high prevalence areas by March 2005, or as selective screening in low prevalence areas by March 2006. The implementation of both the antenatal and neonatal screening programmes has focused on training midwifery and primary care staff to prepare them for this development. As neonatal screening will not be effective without careful follow-up of affected infants, the programme has also highlighted the need for standards of clinical care and training of paediatricians, particularly in low prevalence areas. Sickle cell disease is a variable and unpredictable condition and paediatricians will need to prevent complications as well as recognize and treat emergencies which can be life threatening. Clinical networks of local and more specialist centres will be needed to support the management of these children and ensure complete follow-up of infants diagnosed on the screening programme.

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

To evaluate the results of the screening program for congenital hypothyroidism (CH) in the Greek Cypriot population. During 1990-2000, 109,532 neonates were screened by TSH determination. Permanent CH was proven with biochemical findings after discontinuation of treatment for scintigraphy at the age of 3 years. Permanent CH was diagnosed in 61 infants, incidence 1/1800, with female/male ratio 2.05/1. The most common clinical findings were omphalocele (61%), large anterior fontanelles (49%) and edema of the eyelids (34%). The more delayed the bone maturation, the lower were initial T4 levels (p = 0.005). Bone maturation tended to be more advanced in thyroid hypoplasia and more delayed in thyroid agenesis (p = 0.049). Scintigraphy of the thyroid with TC99 revealed ectopia in 38%, thyroid agenesis in 36%, thyroid hypoplasia in 24% and dyshormonogenesis in 1.7%. Children with transient CH had significantly lower T4 and higher TSH values initially compared to those with permanent CH after birth; initial TSH level, however, failed to predict the nature of CH. Children with transient CH required less thyroxine dosage to maintain normal thyroid hormone levels and they had a normal thyroid gland on scintigraphy. The TSH level was normalized before the age of 2 months with a starting L-thyroxine dose of 10 microg/kg/daily. The incidence of primary CH in Greek Cypriots is 1/1800 live births. The most common etiology is thyroid dysgenesis. Initial T4 levels correlated with the degree of skeletal maturation and the etiology. Initial TSH level, although lower in children with transient CH, could not predict the nature of CH.

The cost-effectiveness of neonatal screening for Cystic Fibrosis: an analysis of alternative scenarios using a decision model

BackgroundThe use of neonatal screening for cystic fibrosis is widely debated in the United Kingdom and elsewhere, but the evidence available to inform policy is limited. This paper explores the cost-effectiveness of adding screening for cystic fibrosis to an existing routine neonatal screening programme for congenital hypothyroidism and phenylketonuria, under alternative scenarios and assumptions.MethodsThe study is based on a decision model comparing screening to no screening in terms of a number of outcome measures, including diagnosis of cystic fibrosis, life-time treatment costs, life years and QALYs gained. The setting is a hypothetical UK health region without an existing neonatal screening programme for cystic fibrosis.ResultsUnder initial assumptions, neonatal screening (using an immunoreactive trypsin/DNA two stage screening protocol) costs £5,387 per infant diagnosed, or £1.83 per infant screened (1998 costs). Neonatal screening for cystic fibrosis produces an incremental cost-effectiveness of £6,864 per QALY gained, in our base case scenario (an assumed benefit of a 6 month delay in the emergence of symptoms). A difference of 11 months or more in the emergence of symptoms (and mean survival) means neonatal screening is both less costly and produces better outcomes than no screening.ConclusionNeonatal screening is expensive as a method of diagnosis. Neonatal screening may be a cost-effective intervention if the hypothesised delays in the onset of symptoms are confirmed. Implementing both antenatal and neonatal screening would undermine potential economic benefits, since a reduction in the birth incidence of cystic fibrosis would reduce the cost-effectiveness of neonatal screening.

Evolução do programa de triagem neonatal para o hipotireoidismo congênito e fenilcetonúria no Estado de Sergipe de 1995 a 2003

An evaluation was made of the timing delays in the various phases of the Screening Program for Congenital Hypothyroidism (HC) and Phenylketonuria (PKU), the coverage and incidence in the State of Sergipe from 1998 to 2003. The results were compared to the data from 1995. The age of the children in the sampling was 12 +/- 11 days (mean +/- standard deviation) lower than the 30 +/- 19 days in the second semester of 1995. In the second half of 2003, the results were analyzed by the physician after 28 +/- 15 days for HC and 25 +/- 15 days for PKU, lower than 80 +/- 40 days for the second semester of 1995. The period between the receipt of the samples at the laboratory and the assay in the second half of 2003 was 6 +/- 4 days for TSH and 3 +/- 2 days for phenylalanine. The coverage in 2003 for the interior of the State and the Capital was 67% and 85%, compared with 5% and 42% in the second semester of 1995, respectively. The incidence from 1998 to 2003 in the Public Health Service of Sergipe for HC was 1/4928 and 1/23406 for PKU. From 1998 to 2003 the therapy was initiated after 49 +/- 17 days and 51 +/- 12 days for HC and PKU, respectively. The reduction in the program timing delays and the increase in the coverage indicate development in the referred program.