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PubMed1987

[Possible interfering factors in the screening of newborn infants for inborn errors of metabolism and measures for their prevention].

From taking a sample to communicating the result, the success of neonatal screening is endangered by a series of pitfalls. Besides internal and external quality control and an adequate practical experience due to high sample throughput, it is important to know these possibilities of errors in order to be able to reduce them to a minimum in daily routine work.

False Positive Reactions↗

PubMed2001

[Screening for hemoglobinopathies in medical practice: audit of gynecologists, pediatricians and generalists in Brussels].

The haemoglobin disorders are frequent genetic diseases in tropical regions and in the mediterranean basin. They include thalassaemia and sickle cell disease. Because of important migrations of populations after the Second World War many big cities are confronted with the disease in West Europe nowadays. In Brussels where a neonatal screening has been organised in the majority of the maternity's, 45% of newborns have at least one parent originating from a region at risk for an haemoglobin disorder. One neonate among 2.000 is diagnosed with a major haemoglobinopathy at the screening. This rate is important and it appeared essential to evaluate the knowledge and need for complementary information among the doctors confronted with the disease. A survey was done in January 1999 and a questionnaire was sent to all gynaecologists, paediatricians and general practitioners in Brussels. The main results were a general self-evaluation of poor knowledge and a great need for complementary information. This survey was important to obtain adequate support of official health authorities in term of screening, prevention and financial aid to information campaigns. A consensus is needed among the different doctors for the best care possible of sick patients.

Attitude of Health Personnel↗

PubMed1987

Infant hearing screening: program implementation and validation.

Congenital and early-onset hearing losses were discovered in 6.1% of 975 Intensive Care Nursery (ICN) graduates. The methods used were neonatal screening by Crib-O-Gram (COG) and high risk register, in combination with repeated behavioral hearing tests at 1 to 3 years. This 7-year longitudinal study had follow-up hearing evaluations for a remarkably high 84% of all subjects. Significant losses that interfered with speech and language development (1000 to 8000 Hz average loss greater than 45 dB HL bilaterally) were found in 4.3% of infants. COG in combination with subsequent behavioral hearing screening was a sensitive strategy for detecting significant hearing loss: only one child was missed with this combination. Alone, COG sensitivity to significant hearing losses was 79.3%, but would have been higher had a stricter passing criterion been adopted. Behavioral hearing screenings detected bilateral hearing losses of even mild (greater than 20 dB HL) degree. Sensitivity to significant hearing losses was 82.6% and would have been improved if test frequencies greater than 3000 Hz were included in the screen. Even if screening failure occurred at 1 year of age, the age of actual confirmation of hearing loss depended on severity of the loss and ear involvement. Significant hearing losses were confirmed earlier than less severe or unilateral losses. Although behavioral screenings could be done during the first year of life, continued follow-up was required to detect progressive hearing losses.

Acoustic Stimulation↗

PubMed1988

Screening for cystic fibrosis among newborns in Norway by measurement of serum/plasma trypsin-like immunoreactivity. Results of a 2 1/2-year pilot project.

A pilot project for neonatal screening for cystic fibrosis (CF) by measuring trypsin-like immunoreactivity (TLI) in liquid serum or plasma samples was carried out in Norway from May 1982 to December 1984. A total of 72,320 newborns was screened. Twelve infants were recalled for sweat testing; 11 were confirmed to have CF. One infant had normal sweat sodium and chloride levels and no clinical symptoms. The incidence of CF in this study was 1:6574, and the recall rate for second blood samples was 0.6%. No false-negative cases have yet been reported. The level of TLI was affected by the use of heparin in plasma preparation, being reduced by about 20% as compared to serum levels.

Cystic Fibrosis↗

PubMed1989

Sources of imprecision in laboratories screening for congenital hypothyroidism: analysis of nine years of performance data.

We evaluated sources of imprecision in screening assays for congenital hypothyroidism performed between 1979 and 1987 by more than 45 laboratories participating in the national Neonatal Screening Standardization Program offered by the Centers for Disease Control. Reported concentrations were available from approximately 70,000 enriched dried-blood spot samples for thyroxin and thyrotropin, the primary and secondary screening assays, respectively. The most important sources of variation in assayed concentrations are within-laboratory imprecision and the methods or kits used. The importance of each of these sources depends on the analyte and its concentration. In most cases, the greatest source of measurement variation is attributable to within-laboratory imprecision (coefficient of variation 13% to 26%); however, kits are the largest source of variation at the lower concentrations of thyroxin. For both analytes, the greatest relative imprecision occurred at the low concentration, which was within the critical range of the cutoff values for detection of presumptive positive specimens. Imprecision in this range increases the risk of misclassifications. Minimizing within-laboratory imprecision and differences among kits seems to be the best way to improve overall efficiency of screening laboratories.

Congenital Hypothyroidism↗

PubMed1986

Regional variations of iodine nutrition and thyroid function during the neonatal period in Europe.

In order to evaluate further the possibility that transient hypothyroidism and hyperthyrotropinemia in newborn infants could result from a state of relative iodine deficiency, the urinary concentration of iodine, used as an index of the dietary intake of iodine was determined in casual urine samples collected in 1,076 full-term infants aged 3-6 days in 16 cities in 10 different European countries and in Toronto, Canada. In addition, the results obtained by programs of systematic neonatal screening for congenital hypothyroidism in the same areas were compared. There were marked regional differences in iodine nutrition during the neonatal period in Europe (median urinary iodine: 16.2 micrograms/dl in Rotterdam, the Netherlands, and 1.1 micrograms/dl in Freiburg, FRG. A low iodine supply in newborn populations was accompanied by, and probably explained, an elevated frequency of transient disorders of thyroid function in young infants. Iodine prophylaxis is urgently needed in some European countries not only for the prevention of goiter, but mostly for the prevention of impairment of thyroid function during the critical period of brain development.

Canada↗

PubMed1999

Screening of folate status with use of dried blood spots on filter paper.

BACKGROUND: Dried blood spots (DBS) on filter paper have been a successful and economical matrix for neonatal screening. OBJECTIVE: Our objective was to develop and evaluate an optimized method for DBS folate analysis and to assess DBS folate stability. DESIGN: DBS were eluted from paper by sonication in 5 g ascorbic acid/L containing 0.1% (by vol) Triton X-100 and hemoglobin folate values (HF; as pmol/g) were calculated from DBS eluate folate and hemoglobin concentrations. RESULTS: Over 95% of DBS folate was eluted during a standardized sonication cycle and DBS folate assay reproducibility was acceptable both within (CV: <8%) and between (CV: <9%) runs. HF means (+/-1 SD) from finger-stick DBS and conventional venous methods were 2513 +/- 1144 and 2607 +/- 1195 pmol/g, respectively, in blood samples taken concurrently from 80 donors, and they correlated well (r = 0.97, P < 0.001). HF values and erythrocyte folate measures may be interconverted by using the mean cell hemoglobin concentration. CONCLUSION: The DBS matrix has potential as an inexpensive and practical option for folate screening studies.

Blood Stains↗

PubMed2006

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.

BACKGROUND: Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-blood filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-blood filter paper samples for appropriate enzyme assays. METHODS: Fluorometric methods were used to evaluate the activities of arylsulfatase B, alpha-N-acetylglucosaminidase, chitotriosidase, alpha and beta-galactosidases, beta-glucosidase, beta-glucuronidase, total hexosaminidases, hexosaminidase A, alpha-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-blood samples were incubated at 37 degrees C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. RESULTS: Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. CONCLUSIONS: Enzyme assay on dried-blood filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.

Fluorometry↗

PubMed1995

Outcome in three siblings with antibody-mediated transient congenital hypothyroidism.

A woman receiving thyroxine substitution therapy for acquired hypothyroidism caused by autoimmune thyroiditis gave birth to three babies who had transient primary hypothyroidism. All three babies had elevated thyrotropin levels on neonatal screening, but one had normal thyroxine values. Thyrotropin receptor-blocking antibodies were present in maternal serum and in the three neonates. Each baby also had a different congenital malformation. The neurodevelopmental outcome of the children appeared related in part to maternal thyroxine levels, which suggests that transplacental transfer of thyroxine may protect the fetal brain.

Adult↗

PubMed1995

Initial screening and diagnosis of and referral for developmental dysplasia of the hip.

The continued diagnosis of cases of late developmental dysplasia of the hip reaffirms the failure of initial clinical neonatal screening programs. Even the identification of an "at risk" patient profile will not eliminate the late diagnoses, but referral of these patients will ensure that up to 50% of late diagnoses can be eliminated. The role of ultrasound as a screening diagnostic tool has not, at this time, been confirmed to eliminate late diagnoses. Its use, however, has led to an increased incidence of treatment with the recognition of the sonographic "immature hip." This, in turn, will increase the number of complications of treatment with iatrogenic avascular necrosis. Therefore, the ideal elimination of all late developmental dysplasia of the hip referrals remains the unattained goal.

Hip Dislocation, Congenital↗

PubMed1996

Histidinaemia: a benign metabolic disorder.

Histidinaemia is a relatively common inherited metabolic disorder with an incidence similar to phenylketonuria. This paper reports the long term outcome of patients diagnosed by newborn screening in the north west of England. Between 1966 and 1990, 108 infants were diagnosed as having histidinaemia by a regional neonatal screening programme (incidence 1:11,083). A further five children were detected following diagnosis in a sibling. Of the 113, nine were lost to follow up. Infants diagnosed before 1981 (n = 47) were placed on a low histidine diet (225 mg/kg/d) for an average period of 21 months (SD 4.5). All patients were reviewed regularly, Griffiths developmental quotients (DQ) were assessed at 2 and 4 years, and WISC-R intelligence quotients (IQ) at 8, 12, and 18 years. IQ data were converted to standard deviation scores (IQ SDS) to account for increasing IQ norms with time. Neither DQ nor IQ correlated with plasma histidine at diagnosis or with the mean plasma histidine throughout life. Growth was normal in all patients. There was no apparent benefit from a low histidine diet in early childhood. In contrast to other studies, there was no excess of clinical symptoms. On the basis of these findings, histidinaemia is a benign metabolic disorder that does not require treatment.

Amino Acid Metabolism, Inborn Errors↗

PubMed1998

Congenital hypothyroidism screening in the West Bank: a test case for screening in developing regions.

Screening for congenital hypothyroidism (CH) among the Arab population of the West Bank began in May 1987 as part of the neonatal screening program in Israel. In the West Bank many infants are born at home or are released from the hospital on the 1st day after birth and thus cannot be screened. However, we tried to reach the infants before the age of 1 month at the maternal and child health centers, where they receive immunization. In this screening program, 64% of the infants were sampled by the 1st week and 93% by 3 weeks of life. In contrast to the screening in Israel, where thyroxine determination is followed by thyroid-stimulating hormone measurement, in the West Bank thyroid-stimulating hormone was tested first in order to decrease the recall rates. From June 1990 to February 1994, 49,694 infants were screened in the West Bank, of whom 24 with CH were detected (an incidence of 1:2,070). From January 1987 to February 1994, 28,938 infants were screened in East Jerusalem, of whom 20 with CH were detected (incidence 1:1,447). There were differences between the incidence rates in the various districts. The incidence rates were higher than those reported from industrialized countries, but similar to those found in Saudi Arabia. This may be due to the high degree of consanguineous marriages among Arab populations and to environmental factors. In conclusion, in spite of the many difficulties, both practical and political, CH screening in the West Bank is feasible. Although screening all newborns shortly after birth is not possible, this study shows that a high percentage of them can be screened at a time when they can still be effectively treated. Our results could be used in due time as a baseline for a future independent screening program.

Age Distribution↗

PubMed2002

Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.

Since the advent of biochemical screening for congenital hypothyroidism, the majority of monozygotic twins reported with thyroid dysgenesis have been discordant, and most were missed on neonatal screening, presumably due to fetal blood mixing. We hypothesized that there may be bias leading to preferential reporting of discordant twins and/or of false negative screening results. Therefore, we performed a systematic search for twins in two congenital hypothyroidism screening centers, Quebec and Brussels, that use a primary TSH approach. In Quebec, 10 pairs of twins were identified, all discordant for congenital hypothyroidism due to thyroid dysgenesis (4 monozygotic and 4 dizygotic pairs) and dyshormonogenesis (2 dizygotic pairs). The 6 pairs identified in the Brussels database were also all discordant for congenital hypothyroidism due to thyroid dysgenesis (1 monozygotic and 3 dizygotic pairs) and dyshormonogenesis (2 dizygotic pairs). The median increase in TSH between screening and diagnosis was 7-fold in the monozygotic twins vs. 2-fold in matched singletons (P = 0.02), suggesting fetal blood mixing between the twins. In summary, discordance for thyroid dysgenesis is the rule in monozygotic twins, and fetal blood mixing may result in delayed or missed diagnoses. We therefore conclude that 1) a second sample for congenital hypothyroidism screening at 14 d of age should be considered for all same-sex twins; and 2) thyroid dysgenesis generally results from epigenetic phenomena, early somatic mutations, or postzygotic stochastic events.

Adult↗

PubMed1978

A new method of paired thyrotropin assay as a screening test for neonatal hypothyroidism.

A simple and reliable method of paired TSH assay was developed and used in screening for neonatal primary hypothyroidism. In this method, a paired assay is first done. Equal parts of the extracts of dried blood spots on filter paper (9 mm diameter) from two infants 4-7 days old are combined and assayed for TSH by double antibody RIA. If the value obtained is over the cut-off point, the extracts are assayed separately for TSH in a second assay to identify the abnormal sample. Two systems, A and B, with different cut-off points were tested. On the basis of reference blood samples (serum levels of TSH, 80 microU/ml in system A and 40 microU/ml in system B), the cut-off point was selected as follows: upper 5 (A) or 4 (B) percentile in the paired assay and values of reference blood samples in the second individual assay. Four cases (2 in A and 2 in B) of neonatal primary hypothyroidism were found among 25 infants (23 in A and 2 in B) who were recalled from a general population 41,400 infants (24,200 in A and 17,200 in B) by 22,700 assays. This paired TSH neonatal hypothyroidism.

Congenital Hypothyroidism↗

PubMedDate not supplied

[Congenital hypothyroidism screening: seasonal variations of TSH levels]

OBJECTIVE: To evaluate the seasonal differences in newborn TSH levels. METHOD: A restrospective study was performed using normal blood TSH measurements collected in a neonatal screening program for congenital hypothyroidism, during the extremes of temperature (summer/winter) in order to verify the seasonal influence on that exam. Blood samples were collected from baby feet on filter paper in health care public institutions in Rio de Janeiro city and TSH were analyzed by immunofluorimetric method. For this study we considered samples with TSH levels less then 20 micro U/ml. The factors age, birth weight and prematurity were all observed.RESULTS: We evaluated 388 measurements: 159 in the summer and 229 in the winter. Newborn and infants aged from 2 days to 3 months were included. The time of collection of the exam was significant in the measurement of TSH and the mean levels of TSH collected in the summer were somewhat higher than those collected in the winter (p = 0,0001), when analyzed by the t-test, even so when the age was taken into account. Using F-test (p=0,0234) we observed differences between TSH levels in age groups. TSH levels in the newborn with 2 to 7 days of age differ significantly from those of higher age. Birth weight and prematurity do not show interference with the TSH measurement.CONCLUSIONS: Newborn and infant TSH levels were significantly higher in the summer than in the winter.

Journal Article↗

PubMed1986

[Nutritional management of neonates and infants with cystic fibrosis of the pancreas detected at birth].

From a systematic neonatal screening for cystic fibrosis in the Basse-Normandie area and to prevent disorders of the intestinal transit related to malabsorption, neonates then infants were given a semi-elemental hypercaloric diet, with supplements in nitrogen, MCT, minerals, vitamins and low in LCT. Diets were adjusted every month during a consultation using clinical and biological parameters. Results in the first 14 children showed that clinically as well as biologically, these children may remain within the normal range, avoiding the previously reported growth retardation and mineral or vitamin deficiencies. This procedure should allow an improvement in the quality of life and prognosis of such children, by maintaining adequate nutritional status.

Avitaminosis↗

PubMedDate not supplied

Newborn screening for congenital hypothyroidism, Victoria, Australia, 1977-1997. Part 1: The screening programme, demography, baseline perinatal data and diagnostic classification.

Clinical, demographic and laboratory data from infants with congenital hypothyroidism (CH) born in the Australian state of Victoria from the commencement of neonatal screening in mid-1977 until December 1988 are reported. These provide a baseline for a 12-year prospective longitudinal study on physical and neuro-psychological outcome until mid-1997, the subject of a second paper. Infants with CH were detected using a primary TT4 screening test. Demographic data were collected prospectively using a clinical assessment protocol. Nearly all affected infants underwent 99mTc pertechnetate scanning at the initial assessment to determine the underlying aetiology of their hypothyroidism. 704,723 infants were screened and 199 with permanent primary hypothyroidism (one in 3,541) were identified. The most common aetiologies were thyroid ectopia (46%), thyroid aplasia (33%), and 'dyshormonogenesis' (11%). The clinical abnormalities classically described in CH were more evident in infants with aplasia, and the striking female preponderance in infants with thyroid dysplasia (syn. dysgenesis) was confirmed. Other features included increased frequencies of 'dyshormonogenesis' in infants of parents of Middle-Eastern origin and of labour induction in infants with dysplasia. A closed posterior fontanelle was not found in any infant with thyroid aplasia.

Age Determination by Skeleton↗

PubMed1999

Pilot screening programme for cystinuria in the Valencian community.

Cystinuria is an autosomal recessive disorder of the kidneys and small intestine, affecting a luminal transport mechanism shared by cystine, ornithine, arginine and lysine. When cystine exceeds its solubility at low pH, the risk of stone formation increases. The data reported in the literature show a variation for the incidence of cystinuria, from 1 in 600 to 1 in 17,000, depending on the definition of cystinuria and the method used for screening the population. We set up a pilot screening programme to determine the incidence of cystinuria in the population of the Valencian Community. Urine filter paper samples submitted for the neonatal screening programme from 33,995 newborns (5-10 days old) were used for the study. Thin layer chromatography (TLC) was performed to screen cystinuric patients. To confirm positive filter paper samples, liquid samples were requested and TLC as well as the cyanide-nitroprusside test (CNT) were performed. Final diagnosis was achieved by quantifying cystine, lysine, ornithine and arginine using high-performance liquid chromatography (HPLC) in children's urine samples which remained positive for TLC and CNT for more than 1 year. We conclude that the incidence of subjects at risk for cystine stones in the Valencian Community is 1:1887. TLC is shown as a reliable method to perform newborn screening in large population to detect cystinuric subjects. Additional studies, including characterization of appropriate haplotypes, should be carried out for a more precise identification of the frequency of the different types of cystinuria in our population.

Chromatography, Thin Layer↗