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To evaluate the effectiveness of an online continuing education course on infant hearing health for primary care professionals. A prospective longitudinal study with interrupted time series pre-test/post-test design. The effectiveness of the online course was assessed by comparing pre- vs. post-training performance and analysing responses to evaluations of the quality of the course. The sample comprised individuals enrolled between September 2018 and August 2019 in a Ministry of Health course, "Actions in primary care for the early identification of hearing impairment" offered on the AVASUS platform. Of the 2908 individuals registered, 1842 (63.3%) completed the course. Their ages ranged from 18 to 77 years, and 67.4% of them were females. Students and doctors were overrepresented among the enrollees. All Brazilian states were included in the sample. Comparisons of pre- and post-training performances showed a significant improvement in knowledge, and 99.3% of the participants provided positive comments regarding the quality of the course. The course is an effective distance learning tool on infant hearing health for primary care professionals. The online course circumvents the limitations posed by geographical barriers and also facilitates decentralisation. [ABSTRACT FROM AUTHOR]

Introduction The Brazilian neonatal screening program established in 2001 included the investigation of cystic fibrosis (CF) in the phase III of the program. For this purpose, the immunoreactive trypsin (IRT) measurement was added to the newborn screening test. The purpose of National Neonatal Screening Program is to reach 100% of live births in Brazil. The aim of this study was to analyze the coverage of neonatal Screening for Cystic Fibrosis (CF) in Brazil from 2008 to 2017. Materials and methods This is an ecological study design based on data collected from the Brazilian Outpatient Information System regarding the detection of IRT as a component of the heel stick test from 2008 to 2017. Moreover, we gathered data from the Brazilian Live Birth Information System referring to live births from 2008 to 2017. We calculated the coverage of IRT measurement for every 100 live births, using the number of IRT measurement procedures as the numerator and the number of live births stratified by federative units (states), as well as by the Brazilian regions as the denominator. These regions correspond to the divisions of the national territory based on criteria such as natural, social, cultural and economic aspects. Results From 2008 to 2017, the regions presented the following coverage medians: South (84.1%), Southeast (71.4%), Midwest (47.3%) Northeast (12.3%) and North (10.9%). In the analysis of federative units, in the years 2013 to 2017, Paraná and Distrito Federal presented the highest median of coverage (100%), while the states with the lowest median were Rio Grande do Norte (12.1%), Amazonas (16.8%) and Paraíba (27.5%). Highest coverage was found in the South region, where are located most of the states with high socioeconomic development and high supply of health services, while the lowest coverage was found in the North region, where are located manly the states with low socioeconomic development and low supply of health services. According to data from the Brazilian Ministry of Health, the universalization of neonatal screening for cystic fibrosis occurred in 2013, however, at the end of this year, most states in the North and Northeast regions had not registered IRT measurements in the Outpatient Information System. Conclusion Although the coverage of neonatal screening for CF has improved nationwide over the years of the study, the disparity in the coverage of IRT measurements at the interregional and interstate levels is notable. Systematic implementation of neonatal screening for cystic fibrosis with equity and access to the entire population is suggested, leading to a greater number of children benefiting from treatment and a better quality of life. [ABSTRACT FROM AUTHOR]

Congenital hypothyroidism (CH) is the commonest preventable cause of mental retardation in human species. It is so important for clinician to know its etiology epidemiology, clinical manifestation and treatment strategies. Since it is one of the rare serious diseases that should not be diagnosed clinically because late clinical features corresponds to advanced mental retardation, the neonatal screening detection is the best and preferable way of early diagnosis of this congenital disease. Confirmatory laboratory and radiological diagnostic tests should be performed immediately after the positive neonatal screening test. In order to prevent mental defects and to maintain long term clinical as well as biochemical euthyroidism in affected children its diagnosis approach, medical treatment and follow-up should be well established knowledge to all pediatricians during the childhood period and later on to general practitioners when these individuals grow up as adults. Congenital hypothyroidism is a potentially serious disease that we need to emphasize on early detection, using proper diagnostic tools and early and planned therapeutic approach. [ABSTRACT FROM AUTHOR]

Congenital hypothyroidism (CH) is an important cause of preventable intellectual disability. Implementation of CH neonatal screening programs leading to early treatment has improved cognitive outcome. However, more subtle cognitive impairments are still reported, and there is lack of clarity regarding factors that impact long-term cognitive outcome. Research to better understand these factors can lead to further improvements in the cognitive prognosis for these patients. The current study aimed to evaluate the cognitive performance of adolescents who were early-treated for primary permanent CH and possible associated variables. Neurocognitive evaluation was carried out in 66 adolescents, 11 to 16 years old: 34 with CH and 29 paired controls. Intellectual quotient (IQ), verbal fluency, processing speed, executive functions, and memory were investigated. CH patients and control subjects were comparable regarding sex, age, schooling, family's socioeconomic status and caregiver's educational level. Both groups presented not only similar IQ scores but also equivalent performances regarding Perceptual Reasoning, Working Memory and Processing Speed index scores. Patients presenting different CH etiologies (dysgenesis and dyshormonogenesis) showed similar cognitive performance. Socioeconomic aspects along with the initial levothyroxine dose were the main variables to positively influence the cognitive performance, the family's socioeconomic status having the strongest association with patients' cognitive skills. [ABSTRACT FROM AUTHOR]

Introduction: LCHADD causes retinopathy associated with low vision, visual field defects, nyctalopia and myopia. We report a retrospective long-term single-center study of 6 LCHADD patients trying to clarify if early diagnosis has an impact on the course and outcome of chorioretinal degeneration. Methods: Long-term follow-up of visual acuity and staging of chorioretinal degeneration by fundus photography, optical coherence tomography (OCT) and autofluorescence (AF) in all six patients. Three patients (2 m/1 f; age 8–14.8 years) were diagnosed by newborn screening, a single patient early within the first year of life and treated promptly while the other two (1 m/1 f; age 23–24 years) were diagnosed later after developing symptoms. All carried HADHA variants; five were homozygous for the common p.E510Q variant, in one from the symptomatically diagnosed group p.[E510Q]; [R291*] was detected. Results: All patients showed retinal alterations, but early diagnosis was associated with a milder phenotype and a longer preservation of visual function. Among symptomatic patients, only one showed mild retinal involvement at the time of diagnosis. Conclusion: Despite the small number our study suggests that early diagnosis does not prevent retinopathy but might contribute to a milder phenotype with retained good visual acuity over time. OCT and AF are reliable non-invasive diagnostic tools to estimate the progression of early-stage retinal changes in LCHADD patients. [ABSTRACT FROM AUTHOR]

Objective: Since the initiation of the thyroid screening program in Iran in 2005, 5 mIU/L has been selected as the threshold for thyroid stimulating hormone (TSH) for screening for congenital hypothyroidism. Given the specific disease pattern in the region and current controversies of the TSH cutoff point, a new cutoff point has been proposed in this study.Methods: This study was conducted on the existing database of the screening program consisting of 127,112 neonates in Markazi Province, center of Iran, during 2006-2012. Data on 614 referred neonates consisting of 414 neonates diagnosed of having hypothyroidism and 200 screened healthy neonates, were analyzed. The heel prick test had been done on the studied neonates to determine the TSH levels. The receiver-operator characteristic (ROC) curve and diagnostic values were used for data analysis.Results: The 5-mIU/L cutoff point in the study had a sensitivity and specificity and AUC of 86.5, 10 and 47%, respectively. Among the eleven selected cutoff points, 6.5 mIU/L had the appropriate sensitivity, specificity and AUC (58.9, 56.5 and 57%, respectively), negative and positive likelihood ratios (0.73 and 1.35, respectively).Conclusion: Given the very low specificity of the 5-mIU/L cutoff point for referral and with respect to the high rate of referrals and many false positive cases, we suggest to use the 6.5-mIU/L cutoff point which is more suitable. [ABSTRACT FROM AUTHOR]

Parent-to-parent support for the families of deaf children has been provided in an East London district as an adjunct to the existing Early Support programme. Two parents of deaf children were employed as Parent Support Workers. They were members of a multi-disciplinary team of audiologists, teachers of the deaf and a specialist speech therapist. A questionnaire was used to obtain the views of the parents of a 10-year cohort of 35 deaf children who had received the peer support. There were high levels of satisfaction. Twenty-two respondents (63%) judged that a parent who had a shared experience was the person best placed to offer help and advice immediately following the diagnosis of childhood deafness with 27 (77%) considering the counselling and guidance of the teacher or therapist as most useful in the pre-school period after this initial period. An overwhelming 34 (97%) would recommend peer support as being useful. Twelve professionals, including five teachers, submitted free text on their views of the support. This was evaluated using thematic analysis. There were concerns about training and governance of the Parent Support Workers, with one teacher considering that the role may conflict with that of the teacher. However, ten professionals considered it to be a beneficial addition to existing programmes and none wanted it withdrawn. Most recognised that the "shared experience" of caring for a deaf child enabled the support workers to get close to families and provide a link with the home, which helped the parents engage with the intervention of the multi-disciplinary team. [ABSTRACT FROM AUTHOR]

Aims: Cytomegalovirus (CMV) is the most common cause of congenital infection. Aim of this study is to support quantitative real-time polymerase chain reaction (PCR) versus shell vials culture for CMV screening in urine samples. Patients & methods: A retrospective study was conducted on 255 urine samples belonging to patients admitted to Bambino Gesù Pediatric Hospital, Rome, Italy, with suspected congenital CMV infection. Results & conclusion: Quantitative real-time PCR resulted more standardized, faster, less operator-dependent, less laborious and most of all cost saving and more sensitive than shell vial culture. Since a negative result for CMV in urine means no congenital infection, a more sensitive tool for detection of CMV DNA is essential to improve patient management and to reduce healthcare costs associated to a late diagnosis. [ABSTRACT FROM AUTHOR]

Objective: Severe combined immunodeficiency (SCID) is a neonatal emergency. As the T-cell receptor excision circles (TREC) test is not cost effective for neonatal screening of SCID in developing countries, this pilot study’s objective aimed at identifying preliminary data to enable SCID identification in the general population. Methods: This observational study was performed in Bagcılar Training and Research Hospital, Istanbul, Turkey. Cord-blood complete blood count (CBC) was recorded in all neonates included in the study. Absolute lymphopenia was considered in cord-blood samples if the absolute lymphocyte count was less than 2500/mm3. A control blood count was performed 1-month later for cases with detected lymphopenia. Results: A total of 2945 term neonates were included in the study. Absolute lymphopenia was found in nine (0.3%) neonates, while 2936 (99.7%) had an absolute lymphocytic count above 2.5 × 103/mm3. The mean counts of red blood cells (RBC), hemoglobin (HGB), hematocrit (HCT), platelets (PLT), and monocytes in the lymphopenia group were not found to significantly differ from the non-lymphopenia group. However, there were significantly lower mean white blood cell (WBC), lymphocyte, and neutrophil counts between the groups (p < .05). Conclusion: Absolute lymphopenia detected using CBC analysis is a simple, easier, more non-invasive, and cheaper method than the TREC method for detection of SCID neonates, and this method may prove to be a useful alternative, especially in developing countries. [ABSTRACT FROM AUTHOR]

We describe here a previously unreported hemoglobin (Hb) variant, Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)] detected by newborn Hb screening in a term male with no family history for hemoglobinopathy or other screening abnormalities. This missense mutation produces a β-globin chain variant that was detected by high performance liquid chromatography (HPLC) methods, but is silent by capillary electrophoresis (CE). DNA sequencing studies revealed that his father was also a heterozygote for this mutation. Neither has abnormalities on complete blood count (CBC) or any symptomatology. [ABSTRACT FROM AUTHOR]

Many parents experience confusion and anxiety when their infant has an abnormal newborn screening result, especially for the heterozygous 'carrier' results that are typically communicated by primary care providers. The Internet is an important media source for health information, so many organizations have developed websites for parents after newborn screening. Surprisingly, little research has been done on the role that the Internet plays for parents after newborn screening. This qualitative study explored parents' comments about the Internet included in open-ended interviews conducted as part of a larger study of parents after newborn screening identifies carrier status for cystic fibrosis or sickle cell disease. Analysis used emergent theme coding and deductive coding grounded in uses and gratifications theory. Parents reported a variety of motivations for searching, and many parents volunteered that they had searched the Internet despite a physician's recommendation to avoid the Internet in this matter. Parents described several strategies for Internet searching and related a mixture of positive and negative experiences. They also gave suggestions for better communication with healthcare providers regarding the Internet search that could have improved their understanding. The study's results may help to guide providers' discussions after newborn screening so that parents can maximize the benefits of the Internet search and minimize negative experiences. Further research may help to quantitatively describe the Internet experience after newborn screening, and to further understand how media use after newborn screening influences psychosocial outcomes. [ABSTRACT FROM AUTHOR]

Background: Children in developing countries with sickle cell disease (SCD) have high rates of mortality, especially in some parts of Africa. Aim: To compare the 5-year estimated mortality rate in children born between 1999 and 2001 with that of children born between 2009 and 2011. Methods: During the period 1998–2012, sickle cell disease was diagnosed in 2591 of 3,617,919 newborns screened in Minas Gerais, Brazil (1 : 1,400). The estimated probability of death [1 - Survival] was calculated by the Kaplan–Meier method. The logrank test was used to compare groups of survival data. Results: Of the 2576 children (15 were excluded), 193 died (7.4%): 153 (79.3%) had SS/Sb0 -thalassaemia, 34 had SC (17.6%), and six (3.1%) had Sbz thalassaemia. The 5-year estimated mortality was lower for children born between 2009 and 2011 (n5509) than for those born between 1999 and 2001 (n5624), although not significantly [mean (SD) 5.8% (1.1) vs 6.2% (1.0)], respectively). Conclusion: Despite an effective ongoing comprehensive screening programme, mortality from SCD in Minas Gerais is still high. To decrease mortality rates, socio-economic development and SCD education programmes for health professionals and families are required. [ABSTRACT FROM AUTHOR]

Screening increases prevalence estimates for most diseases and congenital hypothyroidism (CH) is no exception, affecting one in 6700 children by clinical ascertainment and one in 3500 in the first surveys of systematic biochemical screening of newborns. Importantly, screening has resulted in the disappearance of intellectual disability due to CH. A further doubling in prevalence estimates has recently been reported, mostly accounted for by changes in screening algorithms; accordingly, the prevalence of overt CH has remained stable. Population-based registries that distinguish confirmed diagnoses from positive screening results have proved invaluable. These registries should include: etiology of CH based on imaging, ideally technetium scintigraphy; ethnicity; socio-educational data; input from the screening laboratories and pediatric endocrinologists. Efforts should now be directed at increasing the proportion of the world's newborns screened for overt CH (currently 30%) and at determining if neonates with mild hyperthyrotropinemia also benefit from early treatment. [ABSTRACT FROM AUTHOR]

Purpose: G6PD enzyme deficiency is one of the most prevalent genetic disorders worldwide and it has high incidence rate in Northern provinces of Iran. It was observed that national neonatal screening for G6PD enzyme deficiency fails to detect all affected infants. In order to clarify the cause, this study has been done in Thalassemia Research Center, Sari, Iran. Materials and Methods: This was a diagnostic study. The newborns with parents of Mazandarani origin were enrolled. Cord blood from the placental side was collected and used for decolorization test, quantitative enzyme assay (QEA) and DNA study. A heel-prick sample collected on day 3-5 after birth was used for fluorescent spot test (FST). In male cases, QEA was considered as the gold standard. For females, DNA study was considered as the gold standard. Based on QEA test results, neonates with <20% and 20-60% of mean normal enzyme activity were considered as total deficient and partial deficient, respectively. Results: A total of 365 neonates (52.3% females and 47.7% males) were studied. According to FST, 13 male newborns had G6PD deficiency. No deficient female was detected. Decolorization test diagnosed 18 male and one female as G6PD deficient newborns. QEA diagnosed 19 males and 28 females with G6PD enzyme deficiency (26 partial, 2 total deficient cases). DNA analysis detected 14 males as hemizygote and 34 females as heterozygote. Conclusion: FST does not have the required sensitivity for newborn screening and QEA is recommended as the preferred method. [ABSTRACT FROM AUTHOR]

Conclusion: The most common mutation in the Swedish population was Connexin 26 (C×26) 35delG, which indicates that the percentage of Swedish persons with C×26 mutations and polymorphisms in the GJB2 gene among non-syndromic hearing-impaired (HI) persons is comparable to the rest of Europe. The results strongly support a Swedish policy to offer all children with diagnosed hearing impairment genetic tests for the C×26 35delG mutation. Objectives: The aim of the present study was to search for mutations in the GBJ2 gene among Swedish persons with non-syndromic hearing impairment to further clarify how common these mutations are in Sweden, one of the northernmost countries in Europe. Methods: Seventy-nine patients with non-syndromic hearing impairment participated in the study. For 87% of the participants, a pure tone audiogram showed a severe or profound hearing impairment. Dried blood spots on filter paper, taken at 3-5 days of age in the Swedish nationwide neonatal screening programme for congenital disorders and saved in a biobank, were used for the molecular genetic analyses. Results: The total number of subjects with one or two pathologic mutations or a mutation of unknown consequence found in the GJB2 gene was 28 of 79 (35%). Nineteen (19) persons (24%) were homozygotes for the 35delG mutation. [ABSTRACT FROM AUTHOR]

Conclusion: This universal newborn hearing-screening (UNHS) programme revealed high efficacy. The proportion of congenital sensorineural hearing loss was higher in left ears and in males than in right ears and females, which was in line with the systematic ear asymmetries and sex differences in transient-evoked otoacoustic emission (TEOAE) pass percentage. Objectives: To study the long-term outcome of a UNHS programme based on multiple TEOAEs and clinical click-evoked auditory brainstem response (ABR). Method: The study included all the newborns that were screened during a 6-year period ( n == 31 092). TEOAE pass/fail was analysed in detail. In an assessment performed 10 years after the start of the 6-year UNHS, prevalence, degree and type of congenital hearing loss were studied. Results: The proportion of screened newborns was high, i.e. 98%. Multiple TEOAE recordings minimized the need for clinical ABR. Fifty-seven (0.18%) subjects showed bilateral hearing loss (exceeding ≈≈ 30 dB HL); median ABR threshold == 60 dB nHL (at 2.5 months of age). Bilateral and unilateral sensorineural hearing loss was found in 0.17% ( n == 52; 56% males) and 0.06% ( n == 18; 61% left ears, 56% males) of the screened newborns, respectively. Higher TEOAE pass percentages ( p < 0.01) were demonstrated in right ears and in females than in left ears and males. [ABSTRACT FROM AUTHOR]

To evaluate the incidence of hemoglobinopathies in Omani subjects and to forecast its future burden on health resources, we initiated a prospective neonatal screening program in two major cities of the Sultanate of Oman. Consecutive cord blood samples from a total of 7,837 neonates were analyzed for complete blood counts and for hemoglobin (Hb) profile by high performance liquid chromatography (HPLC). No case with Hb H (β4) was detected. We observed that the overall incidence of α-thalassemia (α-thal) was 48.5% [based on the presence of Hb Bart's (γ4)] and the β-globin-related abnormalities accounted for 9.5% of the samples (4.8% sickle cell trait, 2.6% β-thal trait, 0.9% Hb E trait, 0.8% Hb D trait, 0.08% Hb C trait, 0.3% sickle cell disease and 0.08% homozygous β-thal). This is also the first large study to establish reference ranges of cord red blood cell (RBC) indices for Omani neonates. [ABSTRACT FROM AUTHOR]

The objective of this paper is to present data on the ages of diagnosis and hearing-aid fitting of children with permanent congenital or early-onset hearing loss who were identified through neonatal hearing screening (NHS) programs or medical referral. Data were collected for 709 children born between 1980 and 2003. Children who were screened were diagnosed significantly earlier (mean 6.3 months) than referred children (mean 39.5 months). For the referred children, the ages of diagnosis and amplification improved over time but remained unacceptably high. In addition, there was an inverse relationship between degree of loss and age of diagnosis, with children with lesser degrees of hearing loss identified later than those with severe to profound hearing loss. These results contribute to the evidence that NHS programs lower the ages of diagnosis and amplification and lead to earlier improved hearing. It is argued that early access to hearing should be the desired primary outcome of NHS. The numerous studies demonstrating improved ages of diagnosis resulting from NHS programs constitute adequate evidence to support these initiatives. [ABSTRACT FROM AUTHOR]

The paper describes the outcomes of an ongoing universal hearing screening program in Tirana, Albania. The main objectives of the project were the evaluation of the feasibility of a neonatal hearing screening program in Albania, and an evaluation of the prevalence of risk factors in the NICU environment. One thousand five hundred and sixty-one (1561) infants from both the WB and NICU were screened with transient evoked otoacoustic emissions (TEOAE). A detailed history of risk factors was collected in each case, thus it was possible to evaluate the main factors influencing the output of the screening program. It was concluded that the program had the capacity to identify infants with congenital hearing loss provided that an informative component is well-structured and delivered. Also, although the prevalence of risk factors appeared high, the reduction of 'case leakage' would allow the precise estimation of the incidence of hearing loss in the Albanian population. [ABSTRACT FROM AUTHOR]

A 10-year cohort born in the East London District of Redbridge from 1990 to 2000, was enrolled into a targeted neonatal hearing screen (TNHS). Selection was based on the risk factor criteria of the American Joint Committee on Infant Hearing. The screen was typical of most other selective neonatal screens that were being undertaken in the UK in the 1990s. The cohort was followed up until the children had entered primary school. From the cohort of 32,890 neonates, 1148 (3.5%) were considered at risk of deafness and of these, 1054 received a neonatal Auditory Brainstem Response (ABR) air conduction test. There was a yield of 17 (5.2/10,000) with a moderate or worse bilateral permanent childhood hearing impairment (PCHI). By primary school entry the prevalence of moderate or worse PCHI had risen to 15.2/10,000 with 12.7/10,000 having a congenital deafness. Although 40% had been identified by the neonatal screen it could have been optimized to give a yield of 6.7/10,000. The potential results were compared to the model for targeted screens constructed by the US Preventative Services Task Force (USPS TF). There were important differences between the actual and constructed models. These differences are further discussed in the paper. The East London screen was more efficient but even the optimized screen was less effective than the estimates provided by the hypothetical model, with only half the predicted number of cases being confirmed before the model's target age of 10 months. The USPS TF model has been used to measure the potential added value of Universal Neonatal Hearing Screens (UNHS). However, it does not reflect the selective screens that have been undertaken in the UK, and substantiating evidence will not be available from this source. The conclusion from the reported longitudinal cohort study is that the hypothetical model overestimates the worth of targeted screening and by implication underestimates the potential added value of universal screens. Without a universal newborn hearing screen early detection of congenital deafness is not achievable for the majority of deaf and hearing impaired children. [ABSTRACT FROM AUTHOR]

Background : Accurate measurement of neonatal neurological integrity is critical for early identification of pre-term and full-term infants at-risk for developmental disability. The Neurobehavioural Assessment for Pre-term Infants (NAPI) was developed to measure the progression of neurobehavioural development in pre-term infants born between 32 weeks post-conceptional age (PCA) and term. This instrument has many unique advantages; however, criterion validity is unknown and results are subsequently difficult to interpret. Objectives : This study examined the concurrent validity of the NAPI against a criterion instrument, the Einstein Neonatal Neurobehavioural Assessment Scale (ENNAS), which measures similar constructs and has demonstrated excellent reliability and validity. Methods : A sample of 41 pre-term and full-term infants (40?±?2 weeks) was assessed with the NAPI and ENNAS on the same day. Results : The findings demonstrated that correlations between similar NAPI clusters and ENNAS clusters ranged from 0.35–0.65 and correlations between many similar individual NAPI and ENNAS items ranged from 0.40–0.60. Two NAPI clusters also discriminated between normal, abnormal and suspect performance on the ENNAS. Conclusion : The NAPI has many unique advantages as a tool. It examines neonates serially, has established weekly normative data and requires minimal infant handling. This study provides new validation of the NAPI instrument. [ABSTRACT FROM AUTHOR]

Hb Iowa is a rare hemoglobin (Hb) variant with a Gly→Ala substitution at position 119 of β-globin. It was previously reported only in an African American infant who was also heterozygous for Hb S [β6(A3)Glu→Val] and her mother (Hb A/Iowa). Here we describe the second report of Hb Iowa, the first in conjunction with Hb C [β6(A3)Glu→Lys]. The patient was an African American girl, originally diagnosed as homozygous Hb C during neonatal screening. When seen in our clinic, hematological data for both the child and her mother (Hb C trait) indicated mild anemia with slightly low mean corpuscular volume (MCV) but normal red blood cell (RBC) count. Analysis of blood from the child by capillary isoelectric focusing (cIEF) identified Hb C and an unknown Hb variant with an isoelectric point (pI) intermediate to that of Hbs F and A. The unknown variant was identified as Hb Iowa by DNA sequence analysis of the β-globin gene (GGC→GCC). Both reported cases of Hb Iowa indicated that there are no abnormal hematological manifestations associated with this rare Hb variant. In both cases, however, Hb Iowa was mistaken for Hb F during routine neonatal screening by high performance liquid chromatography (HPLC) and/or gel IEF. Neonatal misidentification of Hb Iowa led to misdiagnosis of sickle cell disease and Hb C disease, respectively. In our patient, Hb Iowa was also misidentified as Hb A at 2 years of age by a commercial reference laboratory using cellulose acetate and citrate agar gel electrophoresis. This led to an incorrect diagnosis of Hb C trait. These results show that commonly used analytical methods can easily misidentify Hb Iowa as Hbs F or A in neonates, or older individuals, resulting in incorrect identification of the Hb phenotype. We conclude that the presence of Hb Iowa, or other variants with similar pIs, should be considered in cases where the results of follow-up testing conflict with neonatal diagnosis of sickle cell or Hb C disease, or where clinical presentation does not agree with diagnosis of either homozygous or heterozygous Hb S or Hb C. [ABSTRACT FROM AUTHOR]

Current hearing screening programmes in the United Kingdom are performing unacceptably poorly. Davies et al. (1997) suggested that universal newborn hearing screening (UNHS) would be more effective and cheaper to run. However, there is concern that hospital-based UNHS would not be feasible because of early postnatal discharge, and thus babies not staying in hospital long enough to be screened. Two studies were designed to determine the viability of hospital-based UNHS in a district general hospital in the United Kingdom. Study 1 retrospectively determined the discharge age and time of discharge of all 3021 well babies born at St Helier hospital, Carshalton, and the number of babies born at home in the area, from 19 October 1997–18 October 1998. Most well babies were found to pass through hospital at a convenient time for predischarge hearing screening, and the optimal protocol was screening from 9 am–2 pm, 7 days a week. The predicted maximal screening coverage was 92.68%. Study 2 tested the calculated optimal protocol over 1 week. It was found that UNHS with otoacoustic emissions on the maternity ward from 9 am–2 pm, 7 days a week, achieved a coverage of 89.06%, with an acceptable false positive rate of 6.2%. It is likely that a similar protocol with slight modifications could be implemented successfully in other hospitals in the United Kingdom. [ABSTRACT FROM AUTHOR]

In Italy, the nationwide newborn screening programme for congenital hypothyroidism (CH) represents an integrated approach to the disease including screening tests, diagnosis, treatment, follow up and nation-wide surveillance of the disease. The latter is performed by the Italian National Registry of Infants with Congenital Hypothyroidism (INRICH). The INRICH is a population-based Registry, this implies that results obtained in the analyses conducted on the data collected in the INRICH are highly representative, can be easily used to improve the health of CH children, and provide information critical to understanding the etiology of the disease. Over the years, the INRICH has contributed: i) to improve procedures for diagnosis, treatment and follow-up of affected babies, by identifying critical points in screening program procedures; ii) to estimate the incidence of CH and the prevalence of the different forms of the disease (thyroid dysgenesis, normally located and shaped thyroid) in our country; iii) to provide a unique opportunity for research into this condition given the large amount and the high quality of information collected in this registry. [ABSTRACT FROM AUTHOR]

The advent of tandem mass spectrometry (MS/MS) around 10 years ago allowed to enlarge consistently the spectrum of metabolic diseases that might be easily and quickly detected. MS/MS was applied to newborn screening in many developed countries, with a wide use, to detect as many as 55 abnormal biochemical conditions (USA), or a restricted one detecting only few diseases (Germany, UK, and Switzerland). Many factors were probably contributing to these very different health organization policies. Although neonatal screening is widely considered extremely useful and efficacious to improve prognosis of many metabolic disorders, the statistically significant demonstration of benefit is quite hard to reach for reasons mainly incidental to the characteristics of these disorders. The expanded newborn screening, in its wide application, includes at present severe diseases presenting in the first days of life, diseases for which treatment is not available, conditions with uncertain significance which are probably not diseases, detection of metabolic disturbances of the mother and all the mildest forms of organic acidurias, urea cycle disorders, fatty acid beta-oxidation defects that may have the possibility to remain asymptomatic for the whole life or may have an acute life-threatening onset of the disease many years later. Which could be the better approach to newborn screening is not clear at present, and probably, it will not be the same for each country. Results of regional screening programs need to be carefully collected and analyzed in future years, with the aim to optimize screening practice in the different countries. Efforts should also be addressed to improve screening programs in the developing countries. [ABSTRACT FROM AUTHOR]