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PubMed1996

An audit of the organisation of neonatal screening for phenylketonuria and congenital hypothyroidism in the Northern Region.

BACKGROUND: The objectives of the study were to identify whether all districts in the Northern Region had a system in place to ensure that all resident babies were being screened for phenylketonuria and congenital hypothyroidism and to identify potential delays which could influence whether a result was available on all residents before 28 days of age. METHODS: Lead professionals involved in the screening programmes were interviewed in 1993 in all 16 districts. Recommendations for improving the service were made to each district. Six months later a follow up telephone interview with the doctor involved in the screening programmes was undertaken to identify the changes that had been made in the service. RESULTS: In 1993 three districts made no attempt to match neonatal screening results to birth notifications. Of the 13 districts that undertook matching, two districts did no further checks to identify babies without a result and five districts undertook a check on a monthly basis only. Only six districts were, therefore, found to have a timely fail-safe system for checking that results were available for resident babies. In 1994, following recommendations to improve the timeliness and completeness of the screening programmes, all districts except two had improved their fail-safe systems. CONCLUSION: This multi-disciplinary regional audit resulted in organisational improvements to the neonatal metabolic screening programmes in the Northern Region.

Appointments and Schedules↗

PubMed1991

The application of PCR amplification and the polymorphic marker KM.19 to dried blood spots: comparison with deletion 508 for the confirmation of the neonatal screening test for cystic fibrosis.

Cystic fibrosis (CF) screening by measurement of immunoreactive trypsin (IRT) lacks specificity: only 9% of hypertrypsinemic neonates have CF. We have studied retrospectively 114 hypertrypsinemic samples (including 37 CF) for KM.19 polymorphic DNA marker and made risk calculations. If the neonate is homozygous for KM.19 allele 2, the risk of CF rises to 55%; if homozygous for allele 1, the risk is very low (less than 1%) and if heterozygous, the risk is intermediate (4%). In a prospective study including 28,000 IRT tests, 76 neonates with IRT greater than 800 micrograms/L have been identified: 16 were homozygous for allele 2 (8 CF), 30 for allele 1 (1 CF), and 30 were heterozygotes (no CF). Deletion 508 was present in 10 neonates: 4 homozygotes (4 CF) and 6 heterozygotes (3 CF). Two CF did not carry any copy of deletion 508. We have studied 181 (presumably non-CF) neonates with IRT greater than 600 micrograms/L. The KM.19 genotypes distribution is significantly different from the one expected in the French population: homozygotes for allele 2 are more numerous. Furthermore, heterozygotes for deletion 508 are 1 in 15 (expected: 1 in 42). In conclusion, molecular biology in dried blood spots can enhance the specificity of CF neonatal screening, but IRT and genotype may not be independent.

Blood Specimen Collection↗

PubMed1988

Neonatal screening and an intensive management programme for galactosaemia: early evidence of benefits.

A prospective study of children with galactosaemia is being undertaken at the Metabolic Clinic, Royal Children's Hospital, Brisbane. The purpose of the study is to collect biochemical, clinical, dietary, developmental and speech and language data. This paper describes the operation of the multiprofessional management programme and reports results for two groups of children: those who were diagnosed before the introduction of neonatal screening in 1982 (the prescreening group) and those who were identified by screening. The eight children in the prescreening group have shown intellectual development in the low-average to moderately-handicapped range. Most of them have speech and language difficulties. The screening group, all of whom are still in infancy or early childhood, appears to be developing normally, with the exception of one child who is showing problems with speech and language. The early results provide a basis for cautious optimism that neonatal screening and careful management will result in improved outcomes for children with galactosaemia.

Galactosemias↗

PubMed2000

Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening.

OBJECTIVES: To provide preliminary evidence that the currently employed semiquantitative method of screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency can only detect infants who are totally deficient for G6PD and misses all cases of partial G6PD deficiency. SETTING: General population: 2150 randomly selected blood samples from the Blood Donation Department, Speliopouleion General Hospital, Athens, Greece. Neonate population: 2000 samples from neonates (50% male; 50% female) in maternity hospitals in the greater Athens area. High risk population: a total of 545 individuals from 133 families in the Athens area, the minimum acceptance criteria being the parents and any brother or sister. METHOD: Blood specimens from neonates or adults were collected and either spotted and dried on special filter paper (Schleicher and Schull 2992, Darmstadt, Germany) or used in tubes after being heparinised. For the quantitative evaluation of G6PD enzyme activity, the Quantase G6PD screening kit (Quantase Limited, Perth, UK) was used. Quantase G6PD controls (Quantase Limited) were used at three levels of G6PD. These controls are rated at 24, 30, and 37 degrees C. Alternatively, we used the Sigma G6PDH controls (Sigma Chemical Company, St Louis, USA) which are rated at 30 and 37 degrees C. The assay was performed according to the instructions included in the kit with the modification for haemoglobin normalisation. RESULTS: General population: 36 females who were classified as having normal enzymatic activity with the semiquantitative test, were classified as partially deficient with the quantitative test. Neonate population: using the quantitative test, the percentage of G6PD deficient neonates in this population was 5.5%, compared with 3.17% reported in routine screening using the semiquantitative method. High risk population: the quantitative method detected 28 cases of total or partial G6PD deficiency in sisters of males with known total deficiency. The semiquantitative CONCLUSIONS: A considerable amount of partially G6PD deficient female neonates (heterozygotes) are undetected and classified as having normal enzymatic activity using the semiquantitative method, which uses a cut off of 2.1 U/g haemoglobin (Hb). The use of a fully quantitative G6PD screening kit is proposed, employing the automated haemoglobin normalisation and a cut off of 6.4 U/g Hb. Any neonate with an activity below this mark should be regarded as G6PD deficient, and all preventive measures should be taken.

Clinical Enzyme Tests↗

PubMed1999

Neonatal screening: ethical aspects.

The purpose of this paper is to give an overview of the ethical issues raised by neonatal screening for cystic fibrosis and to propose a structure for the ethical analysis of these issues. The structure is based on an analysis of some of the most common shortcomings of ethical analyses. The structure needs to be supplemented by facts about the present state of the art concerning effects and costs of the various screening and treatment alternatives. Such information is provided by other contributions to these proceedings.

Cost-Benefit Analysis↗

PubMed1999

School attainments in children with congenital hypothyroidism detected by neonatal screening and treated early in life.

OBJECTIVE: Evaluation of school attainments in children with congenital hypothyroidism (CH) detected by neonatal screening and treated early in life. PATIENTS AND METHODS: Text comprehension, mathematics, reading, writing and verbal and spatial memory, as indices of school learning, were evaluated in nineteen 5- to 10-year-old children with CH attending nursery or elementary school. l-Thyroxine substitution (starting dose 8-10 microg/kg body weight per day) was initiated at a mean age of 30+/-10 days of life. The control group included 298 unaffected children matched with the CH children for age and school grade. Thirty per cent of controls were classmates of CH children. Intelligence quotients (IQ), language performances and motor development were evaluated in CH children at age 5 years, and were related to their school attainments. School performances of CH children were also compared with their neonatal serum thyroxine (T4) concentration, and with the social-cultural level of the family. RESULTS: Four out of 19 (21%) children with CH, 3 in the nursery and 1 in the elementary school, displayed a generalized learning disorder. Symbol copy, geometric copy, phrase repetition, dictation writing and spontaneous writing were particularly defective in nursery school CH children, while orthographic error recognition was defective in elementary school CH children. School learning disorders in CH children were significantly correlated with a borderline-low IQ, poor language performances and a low social-cultural level of the family, but not with motor skills or neonatal T4 concentration. CONCLUSION: School attainments of early treated CH children were within the normal range in most affected cases. However, about 20% of CH children, most of them attending nursery school, showed a generalized learning disorder. Low IQ scores and poor language performances at age 5 years were associated with defective learning, mainly in CH children living in a poor social-cultural environment. In this subset of CH children, prompt initiation of speech and psychomotor rehabilitation therapy is recommended in order to prevent subsequent school learning disorders.

Child↗

PubMedDate not supplied

[Neonatal screening of congenital Hypothyroidism: result of the Navarra program].

The incidence of congenital Hypothyroidism is estimated at one case per 3,000-4,000 newly born. It is a proven fact that early diagnosis and treatment of this problem prevents mental retardation, which has led to the design and utilisation of methods of systematic detection in the newly born. The implantation of the screening program is relatively recent and progressive in some autonomous communities. With respect to the achievements that are being obtained by the program outstanding is the shorter time with respect to initiation of the treatment, but there still remain some shortcomings such as that of carrying out a longitudinal follow up of these infants, with respect to the evaluation of the development quotient, hence the need to have available hospital psychologists to carry out these evaluations. The expectations of achieving a mental development within normality in the children affected by congenital Hypothyroidism detected by the neonatal screening is a fact confirmed by many authors, for which reason it is highly encouraging to view the results of early detection of this neonatal screening.

English Abstract↗

PubMed2006

Early microbial colonization of cystic fibrosis patients identified by neonatal screening, with emphasis on Staphylococcus aureus.

OBJECTIVES: To assess bacterial colonization prospectively in patients with cystic fibrosis identified by neonatal screening. To assess susceptibility to antimicrobials and to perform the molecular typing of Staphylococcus aureus strains isolated from the oropharynx of patients during the study. METHODS: Twenty-five cystic fibrosis patients receiving regular treatment at the Cystic Fibrosis Outpatient Clinic of Hospital de Clínicas of Universidade Federal do Paraná, Brazil, were included in the study. All patients were identified by trypsin-like immunoreactivity and their diagnosis was confirmed by two or more sweat tests. Oropharyngeal swabs were collected and cultured according to routine methods; bacterial colonies were phenotypically identified and their susceptibility to antimicrobials was tested. S. aureus isolates were submitted to molecular typing using pulsed-field gel electrophoresis. RESULTS: Out of 234 oropharyngeal swabs, S. aureus was the most frequently isolated strain (76% of patients, 42% of swabs), followed by Pseudomonas aeruginosa (36% of patients, 16% of swabs) and Haemophilus spp. (76% of patients; 19% of swabs). Seventy-three isolates were obtained from 19 patients colonized with S. aureus, of which 18 were oxacillin-resistant (24.6%), isolated from two patients, with the same electrophoretic profiles as that of the Brazilian clone. The remaining oxacillin-sensitive isolates were distributed into 18 electrophoretic profiles. CONCLUSION: There was higher prevalence of S. aureus, with earlier isolation than other pathogens. Multi-sensitive isolates were distributed into different clones, characterizing non-transmissibility among community-acquired strains. The isolated oxacillin-resistant S. aureus showed identical electrophoretic profiles, probably acquired in hospital. P. aeruginosa was not so frequent in the studied population.

Animals↗

PubMed1995

Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies.

OBJECTIVES: To review the overall performance of a neonatal screening program for cystic fibrosis (CF) from 1981 to 1994, and to compare two strategies of case detection. PROGRAM DESIGN: Initially, immunoreactive trypsin (IRT) was measured in dried blood spots, and because of the low sensitivity of this test at days 3 to 5, a second sample was needed from babies with positive test results. Since 1993 a positive IRT assay result has been followed by direct gene analysis for the common CF mutation, delta F508, with the use of the same sample. Cases with false-negative results were actively sought throughout the period. RESULTS: With IRT alone, 1,015,000 babies were tested. Of 389 babies with CF, 30 had a clinical diagnosis of CF made after a negative screening test result or an administrative error. Early diagnosis was achieved in 92%. With the IRT/DNA protocol, 59 of 62 infants had a positive screening test result (44 were homozygous for delta F508) among 189,000 babies tested. Three babies with CF had no copy of this mutation, but two were identified early because of meconium ileus. The false-positive rate was much greater for IRT alone than for the IRT/DNA test (0.69% vs 0.054%). All false-positive cases in the IRT/DNA protocol were, of necessity, CF carriers. CONCLUSION: The percentage of babies with CF who had an early diagnosis was similar with the two protocols, but we concluded that the advantages of the IRT/DNA test for screening, particularly in the avoidance of the need for second IRT samples, outweighed the drawback of unwanted carrier detection.

Australia↗

PubMed2005

Neonatal screening for congenital cytomegalovirus infection and hearing loss.

BACKGROUND: Congenital cytomegalovirus infection causes 20-30% of congenital sensorineural hearing loss (SNHL) cases. Early identification of CMV attributable cases and their successful treatment are often hampered by the late appearance of the damage in a high proportion of children both symptomatic and asymptomatic at birth. OBJECTIVE: To discuss the feasibility of a screening program aimed at finding congenitally infected babies followed by their audiological monitoring. STUDY DESIGN: Opinion-review article. RESULTS AND CONCLUSIONS: Frequency and severity of hearing loss due to congenital CMV suggest it maybe worthwhile setting up neonatal screening campaigns. Structures where SNHL can be diagnosed and treated exist already in many countries as part of universal neonatal audiological screening schemes. A test based on viral DNA extraction from neonatal dried blood spots on Guthrie cards and its amplification by means of a nested PCR (DBS test) seems to offer the best characteristics for use in screening. Clearly it will be necessary to calculate whether the costs of screening, diagnosis and follow-up, and the financial and emotional burden on the families of infected children, are up to the potential gain.

Cytomegalovirus↗

PubMed1998

Increased incidence of congenital malformations in children with transient thyroid-stimulating hormone elevation on neonatal screening.

We investigated the incidence of congenital malformation in all infants with raised thyroid-stimulating hormone (TSH) levels on neonatal screening in Scotland between August 1979 and December 1993. Of 344 infants with elevated TSH, 31 (9%) had one or more malformations: 12 cardiac 15 noncardiac, and 16 dysmorphic syndromes (including 5 with Down syndrome). Criteria were devised to distinguish between definite or probable congenital hypothyroidism and transient TSH elevation. Congenital hypothyroidism was considered definite in 224 (65.1%) infants and probable in 11 (3.2%). Eighty-eight (25.6%) infants had transient TSH elevation, whereas thyroid status was uncertain in 21 (6.1%). In the definite group 12 (5.4%) infants had one or more malformations compared with 13 (14.8%) in the transient group. Cardiac malformation, noncardiac malformation, dysmorphic syndromes, and "sickness" were much more frequent in the transient compared with the definite group: 5.7% versus 1.8%, 8.0% versus 1.8%, 6.8% versus 2.7%, and 37.5% versus 7.1%, respectively. The incidence of congenital malformation in bonafide congenital hypothyroidism is lower than has been previously reported. The high incidence of congenital malformation associated with transient TSH elevation indicates the need to reevaluate the diagnosis of hypothyroidism in all infants with TSH elevation and concurrent illness or malformation.

Case-Control Studies↗

PubMed1991

Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction.

Neonatal screening for Duchenne/Becker Muscular dystrophy (DMD/BMD) was begun as a pilot program on January 1, 1986. The aim of this program was to reduce the incidence of this X-linked recessive degenerative neuromuscular disease. The neonatal detection of a boy with DMD allows early identification of carriers and genetic counselling. This may avert the birth of other affected males born prior to clinical diagnosis of DMD in the propositus at about age 5 years. Between January 1, 1986, and December 31, 1988, we identified and characterized a cohort of 8 asymptomatic infant boys with grossly elevated levels of creatine kinase, an active primary dystrophic process of muscle and complete dystrophin deficiency. Five of 8 males have detectable DNA alterations involving the DMD/BMD locus. Based on current hypotheses, characterization of dystrophin expression of this cohort allows us to predict a DMD phenotype in all 8 boys. To date, no additional males with DMD have been born in these families. Prospective follow-up will allow us to test the validity of dystrophin testing in predicting the clinical course and impact of this program on reproductive decision making in these families.

Cohort Studies↗

PubMed1997

Assessment of maternal anxiety following neonatal screening and investigation for occult spinal dysraphism.

The objective was to determine maternal anxiety and attitudes associated with a programme of neonatal screening and investigation for occult spinal dysraphism. Questionnaires were completed after diagnostic investigation (time 1) and 6 months later (time 2) by 83 mothers of babies with possible markers of occult spinal dysraphism who were normal on spinal ultrasound. Outcome measures were: attitudes to the programme; maternal adjustment and attitudes to the baby; the State-Trait Anxiety Inventory. Fifty-four other postnatal mothers formed the comparison group for maternal adjustment. No significant differences were found between investigation group (time 1) and comparisons on measures of maternal adjustment. Anxious mothers gave more negative responses to some maternal adjustment items but not to attitudes to the programme. Mean state anxiety at time 1 (33.66) and time 2 (33.69) and mean trait anxiety (36.23) were not higher than in mothers of normal babies. It can be concluded that a programme of investigation for neonatal abnormalities that pays attention to detail need not cause excessive maternal anxiety. However, some mothers remain anxious even after receiving normal results. Anxiety can be assessed during appraisal of a new investigation programme, but refinements are needed.

Adaptation, Psychological↗

PubMedDate not supplied

[Neonatal screening for hemoglobinopathies in Rio de Janeiro, Brazil].

OBJECTIVE: To describe the main results obtained in the first 15 months of neonatal screening for sickle cell disease in the state of Rio de Janeiro, Brazil, from August 2000 to November 2001. METHODS: Starting in August 2000, blood samples began to be collected for sickle cell disease screening from all newborns receiving care in primary health care clinics in the state of Rio de Janeiro. The samples were submitted to high-resolution liquid chromatography. If the resulting chromatogram was compatible with sickle cell disease, the child and the parents were referred for diagnostic confirmation and treatment. RESULTS: Between August 2000 and November 2001, 99 260 newborns were screened. There was one case of homozygous Hb C. On average, one of every 27 newborns who were screened presented sickle cell trait (Hb AS). Sickle cell disease was observed in 83 cases, or one new case in each 1 196 births. The 83 consisted of: 62 Hb S, 18 Hb SC, and 3 Hb SD. One child did not appear for diagnostic confirmation. The 82 children who were followed up by the program presented 15 intercurrent illnesses (upper respiratory infections, fever, splenic sequestration crises, hand-foot syndrome, and vascular occlusion), resulting in seven hospital admissions. Blood transfusions were necessary with 15 children, but none developed alloimmunization. All the other babies were doing well with the use of prophylactic penicillin. CONCLUSIONS: Our data show the importance of early diagnosis for sickle cell disease, so as to prevent the frequent infectious complications faced by these patients.

Anemia, Sickle Cell↗

PubMed1992

Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features.

The relationships between biochemical severity of hypothyroidism (as judged by plasma thyroxine) and the clinical and radiographic findings at diagnosis were evaluated in 449 infants born in 1982-4 with congenital hypothyroidism identified by neonatal screening. Details of pregnancy, delivery, and the neonatal period were also examined and compared with the findings in a normal population of 36,727 infants born in 1988. Infants with plasma thyroxine values of 30 nmol/l or less had a significantly higher incidence of prolonged jaundice, feeding difficulties, lethargy, umbilical hernia and macroglossia, showed more severe delay of bone maturation on a knee radiograph, and had a higher proportion of thyroid agenesis on isotope scan. In contrast, an ectopic or hypoplastic gland was more common in infants with plasma thyroxine values above 30 nmol/l. Prevalence of illness in pregnancy and mode of delivery was not related to severity of hypothyroidism and were similar to figures for the normal population. Induction of labour, gestation over 40 weeks, and birth weight above 3500 g were significantly more common in the hypothyroid infants. Perinatal illness and congenital malformations were more common in the infants with low plasma thyroxine values at diagnosis.

Adult↗

PubMed2003

[Diagnosis and neonatal screening of cystic fibrosis].

The circumstances leading to the diagnosis of cystic fibrosis are sensibly going to be modified in France, with the generalisation of systematic neonatal screening. Indeed, close to 95% of patients will be diagnosed in the neonatal period. Those who are missed by this screening often have a form of disease that is said to be moderate, with specific mutations, and without pancreatic insufficiency. However be the mode of revelation, the diagnosis should be confirmed by a positive sweat test with an elevated level of chlorine, and (or) the presence of 2 mutations in the gene causing the illness. Early diagnosis by screening only makes sense if the patients are followed in specialised centres of care, accredited by the professional bodies. It is in all likelihood to be at this price that the results, in terms of median survival, will improve in our country.

Cystic Fibrosis↗

PubMed1999

Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia.

OBJECTIVE: to describe parents' perceptions of familial hypercholesterolaemia (FH), an inherited predisposition to heart disease, following population-based neonatal screening. DESIGN: a qualitative analysis of semi-structured interviews with the parents of 24 children who had received a positive screening test result informing them that their child was at-risk for having FH. RESULTS: responses to screening seemed to vary according to perceptions of the underlying cause of the positive screening test result. When parents perceived the test as detecting raised cholesterol the condition was perceived as familiar, dietary in origin, controllable and less threatening. When the test was seen as detecting a genetic problem, the condition was perceived as uncontrollable and, hence, more threatening. CONCLUSION: these pilot data raise questions about the extent to which assessing disease risks by DNA analysis may result in a sense of fatalism, adversely affecting motivation to change behaviour and to reduce risks.

Adult↗

PubMed1984

Neonatal screening for sickle cell disease in the Eastern Province of Saudi Arabia.

Neonatal screening for sickle cell disease has been established in three hospitals in the Eastern Province of Saudi Arabia. In the first 17 months of this programme, 5630 cord blood samples were screened with the detection of 47 babies with an FS phenotype. The sickle cell trait occurred in 4.4% births in Al Khobar, in 6.7% in Dammam and in 17.9% in Qatif. An apparent excess of the FS phenotype over that predicted from the observed S gene frequency occurred at all three centres. The cause of this excess remains unknown although a high prevalence of sickle cell-beta o thalassaemia and the effects of non-random mating may be contributory factors.

Anemia, Sickle Cell↗