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PubMedDate not supplied

Enzyme-linked immunosorbent assay for apolipoprotein B on dried blood spot derived from newborn infant: its application to neonatal mass screening for hypercholesterolemia.

Hypercholesterolemia is a risk factor for atherosclerotic cardiovascular disease, and early diagnosis and treatment should be given attention. We developed a simple and sensitive enzyme-linked immunosorbent assay (ELISA) for apolipoprotein B (apoB) on a dried blood spot (DBS). The specificity of this assay was investigated by constructing curves for other proteins. The cross-reactivity was negligible. The mean intra- and intercoefficients of variation were 5.2 and 7.8%, respectively. We used phosphate buffer with Triton X-100 for extracting apoB on DBS. The elution of apoB was stable up to 30 days after bleeding. The correlation between plasma and DBS apoB was r = 0.94, p less than 0.005, n = 55. Using this method, we screened 2,500 babies between 5 and 7 days of age. The mean +/- SD of DBS apoB was 75 +/- 15 U. Seven hypercholesterolemic neonates were detected. Family studies of these neonates disclosed one definite and two suspected heterozygotes for familial hypercholesterolemia. Four other neonates showed no related familial background. This ELISA method for assaying apoB should prove to be a useful tool for large mass screening for hypercholesterolemia, particularly in the newborn.

Apolipoproteins B↗
PubMedDate not supplied

Early- and middle-aer components to clicks as response indices for neonatal hearing screening.

Early- and middle-component-averaged electroencephalic responses (AER) to monotic clicks at 60, 40 and 20 dB normal hearing level were elicited from 18 carefully selected normal neonates. Grand-composite AERs of the responses from all 18 babies showed stimulus-related configurations at all three stimulus levels. AERs for individual babies were more frequently identified as stimulus-related when poststimulus activity beyond 10 ms was included in response-identification procedures than when only the first 10 ms was observed.

Audiometry↗
PubMed2005

Hearing screening of infants in Neonatal Unit, Hospital Universiti Sains Malaysia using transient evoked otoacoustic emissions.

The objective of this prospective study was to report on the prevalence of hearing impairment in the neonatal unit population. From 15 February 2000 to 15 March 2000 and from 15 February 2001 to 15 May 2001, 401 neonates were screened using transient evoked otoacoustic emissions (TEOAE) followed by second-stage screening of those infants who failed the initial test. Eight (2 per cent) infants failed one ear and 23 (5.74 per cent) infants failed both ears, adding up to 7.74 per cent planned for second-stage screening. Five out of 22 infants who came for the follow up failed the screening, resulting in a prevalence of hearing impairment of 1 per cent (95 per cent confidence interval [95% CI]: 0.0-2.0). Craniofacial malformations, very low birth weight, ototoxic medication, stigmata/syndromes associated with hearing loss and hyperbilirubinaemia at the level of exchange tranfusion were identified to be independent significant risk factors for hearing impairment, while poor Apgar scores and mechanical ventilation of more than five days were not. In conclusion, hearing screening in high-risk neonates revealed a total of 1 per cent with hearing loss. The changes in the risk profile indicate improved perinatal handling in a neonatal population at risk for hearing disorders.

Acoustic Stimulation↗
PubMed2006

Late postnatal onset of hearing loss due to GJB2 mutations.

GJB2 mutations account for approximately 50% of recessive non-syndromic deafness, with 35delG being the most prevalent. Homozygous 35delG mutations cause pre-lingual, non-progressive hearing loss that is detected on newborn hearing screening programmes. We present a sibling pair with homozygous 35delG mutations, who passed hearing tests in early infancy and developed progressive sensorineural hearing loss, one requiring a cochlear implant. These cases illustrate that deafness due to such mutations may have a late onset and consequently be missed on neonatal screening programmes and they may present an argument to consider neonatal screening for GJB2 mutations in order to aid early intervention.

Audiometry, Pure-Tone↗
PubMed1991

Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens.

Direct genotypic analysis for the common Caucasian cystic fibrosis mutation (delta F508) was performed using dried blood specimens in a filter paper matrix (neonatal screening blotter). DNA was obtained from dried and liquid blood samples, amplified, and analyzed by polyacrylamide gel electrophoresis. Additionally, intact 4-mm-diameter punched discs from blotters containing dried blood specimen were used in the amplification reactions and analyzed by electrophoresis. The results agreed completely between these three sample types, demonstrating the feasibility of molecular genetic confirmation of the delta F508 mutation from the neonatal screening blotter among those with positive CF screening results. Such a program could reduce follow-up testing by at least 50% in a CF newborn screening program and would identify immediately those families who would benefit from carrier detection for the delta F508 allele.

Cystic Fibrosis↗
PubMed1989

Congenital hypothyroidism in Kuwait.

During a 7-year period (1981-1987), 25 children with congenital hypothyroidism were diagnosed in a regional hospital in Kuwait. The calculated incidence was 1:3476 live births. The diagnosis relied on clinical manifestation and confirmed by thyroid function tests. The age at diagnosis ranged between 3 weeks and 7 years with a mean of 18.5 months. Seven patients (28 per cent) were diagnosed in the first months, six in the following 5 months (24 per cent), and 12 diagnosed after the age of 6 months (48 per cent). Thyroid scan (TC-99M) was performed for 13 patients, four had thyroid aplasia, three had ectopia, and six had thyroid in normal position. In 1986-1987, two patients were detected by neonatal screening. Mental development was the best in the children who received thyroid hormone replacement in the first 6 months of life. Until a neonatal screening programme is widely available in developing countries, increased clinical awareness will remain the main way for the detection of congenital hypothyroidism.

Child↗
PubMed2006

Neonatal illicit drug screening practices in Iowa: the impact of utilization of a structured screening protocol.

OBJECTIVE: The purpose of the study was to determine the neonatal illicit drug screening practices of Iowa birthing hospitals. STUDY DESIGN: Cross-sectional survey design was implemented. The impact of structured screening protocols on the numbers of neonates screened and positive testing in 2004 was reviewed. RESULTS: Of 81 birthing hospitals, 53 (65%) participated in the study. Screening and positive test rates were higher in hospitals utilizing a structured screening protocol compared to those not utilizing one (10.9 versus 2.1% and 0.9 versus 0.2%, respectively, P < 0.0001). Hospitals with higher population, numbers of outpatients, inpatients, deliveries, and availability of drug abuse treatment services utilized a structured screening protocol more often. CONCLUSION: Utilization of a structured screening protocol increases the number of neonates screened for illicit drugs and positive testing rate regardless of urbanization. Regional standardization of structured screening protocols may improve the recognition of perinatal illicit drug exposure and provision of treatment services.

Clinical Protocols↗
PubMed2005

Plasma biopterin levels and tetrahydrobiopterin responsiveness.

Tetrahydrobiopterin (BH4) responsive hyperphenylalaninemia (HPA) with a mutant phenylalanine hydroxylase (PAH) gene was found during neonatal screening for PKU. This study determined blood BH4 and phenylalanine in two patients with hyperphenylalaninemia following oral load with BH4 10 mg/kg. Our patients underwent neonatal screening for PKU, had normal biopterin metabolism and their PAH mutations were determined. Peak plasma biopterin levels in Case 1, which were reached at between 2 and 4h after loading, were 612, 297, and 178 nmol/L at age 30 days, 55 days, and 19 months, respectively, and the maximum phenylalanine decreasing rates, which were found at 24h, were 54, 16, and 4%, respectively. In Case 2, peak plasma biopterin levels were 747 and 327 nmol/L at age 20 and 55 days, respectively, and the maximum phenylalanine decreasing rates were 39 and 32%, respectively. In the BH4 loading test, the peaks of BH4 in both patients lowered ( approximately 50%), on the same dose schedule of BH4, as patients got older.

Biopterins↗
PubMed1982

Congenital hip dislocation: an increasing and still uncontrolled disability?

A study of 178 cases of congenital dislocation of the hip in babies born between 1965 and 1978 in Southampton health district showed that the incidence had virtually doubled over this period. Established cases (persisting beyond the first birthday) had risen to around two cases per 1000 per live births. One-third of these were first diagnosed after the age of 1 year and one-fifth after 18 months. The findings are particularly disappointing as there were opportunities after the neonatal period for earlier diagnosis. Thus, neonatal screening appears to have failed to make a substantial impact on the morbidity of the disease, probably because of a combination of inherent difficulties in the neonatal screening test as well as failure in its proper application. Much greater vigilance is needed during the first year of life if congenital dislocation of the hip is to be detected and treated as early as possible. Perhaps this could be achieved if all health professionals were more aware of the problem and were encouraged to examine hips at every opportunity and health authorities periodically audited their results.

Child, Preschool↗
PubMed1988

Influence of environmental iodine deficiency on neonatal thyroid screening results.

During a multicentric pilot screening program for congenital hypothyroidism a comparison between the results obtained from Urbino, an area characterized by low iodine supply and endemic goiter, and Rome, a non-endemic area, has been made. The evaluation of neonatal urinary iodine excretion in the two areas showed significantly lower iodine urinary excretion levels in Urbino than in Rome. A shift of TSH at screening toward higher values as well as a higher percentage of recall in Urbino area than in Rome was observed. This finding, which well correlates with a low environmental iodine supply, emphasizes the importance of screening for congenital hypothyroidism as a suitable index of the presence and action of goitrogenic factors in the environment.

Child, Preschool↗
PubMed2003

Screening for congenital hypothyroidism--a new era in Bangladesh.

Neonatal screening is a new concept in Bangladesh. Currently a pilot program is ongoing where newborns are screened for congenital hypothyroidism (CH). In a country like Bangladesh, where people are still fighting childhood problems like malnutrition, diarrhea and other communicable diseases with a high infant and child mortality rate, instituting a newborn screening program is a challenge. TSH is measured on filter paper using IRMA methods. Both cord and heel prick blood are used. A cut off value of 20 mIU/l is used above which all babies are recalled for serum T4 evaluation. Approximately 2600 newborns have been screened in the pilot program. Of these, 2 newborns were detected with CH (incidence rate 1:1300). Since it is a new program in Bangladesh, effort is mainly given on popularizing the program and building necessary infra-structure. The newborn screening program has been accepted with mixed reaction in the community. Hopefully, the government is developing a positive attitude towards the program. The paediatricians and obstetricians are also interested. The program needs more publicity. Patronization by the government and other international bodies will be essential for continuation of the program.

Bangladesh↗
PubMed2004

Diagnosis and characterization of Hb C/Hb Iowa: a rare but easily misidentified compound heterozygous condition.

Hb Iowa is a rare hemoglobin (Hb) variant with a Gly --> Ala substitution at position 119 of beta-globin. It was previously reported only in an African American infant who was also heterozygous for Hb S [beta6(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 [beta6(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 beta-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.

Alleles↗
PubMed2000

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.

OBJECTIVES: We have genotyped the patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency identified from March 1980 to December 1997 through a combined program of neonatal screening and case survey in the Emilia-Romagna Region (Italy). We have also analysed retrospectively the possible advantages of genotypical neonatal classification. DESIGN: A 'phase A' of screening and clinical monitoring (March 1980-September 1983 and March 1991-December 1997) and a 'phase B' of clinical monitoring only (October 1983-February 1991) were taken into account. PATIENTS: A total of 61 patients (20 salt wasting, nine simple virilizing and 32 nonclassical forms) were genotyped, HLA typed and hormonally tested to understand better the genotype/phenotype relationship and the epidemiology and geographical distribution of associated mutations. The fully genotyped patients were classified into four mutation groups according to the degree of enzymatic activity ('null' and 'A' to 'C'). RESULT: The most frequent genotype alterations were deletion (24.1% classical, 3.3% nonclassical forms), large gene conversion (9.2% classical, 1.7% nonclassical forms), In2 splice (27.7% classical, 15.0% nonclassical forms), I172N (5.5% classical, 10.0% nonclassical forms), V281L (3.7% classical, 43.3% nonclassical forms), P453S (5.0% nonclassical forms). A significant difference (chi2 = 5.101; P < 0.025) in the distribution of classical genotypes was found in Romagna (south-east; incidence 1 : 7437 newborns) compared to Emilia (north-west; incidence 1 : 25 090 newborns). Two putative new mutations were found in our population. Little discrepancy was found between genotype and phenotype. CONCLUSIONS: The high frequency of genotypes 'null' or 'A' in the 'phase A' vs. 'phase B' of our study confirms the usefulness of neonatal screening in preventing the death of male patients with salt wasting forms. The substantial similarity in the mutational spectrum of classical forms found in our study, based on the detection of all the classical patients of a specific area, leads us to believe that the distribution of mutations is due to the inherent characteristics of the gene locus, and that regional effects play a minor role. Prompt neonatal genotyping can be of valuable diagnostic assistance in neonatal screening for the confirmation of the diagnosis in newborns with moderately elevated 17 hydroxyprogesterone levels.

Adolescent↗