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At least 613 records · Page 34Linked to original sources
PubMed1984

Neonatal screening for cystic fibrosis by dried blood spot trypsin assay. Results in 47 127 newborn infants from a homogeneous population.

47 127 newborn infants from the Emilia-Romagna region were screened for cystic fibrosis by dried blood spot trypsin assay. In the initial 12 099 subjects screened with a non-standardized method, two children with cystic fibrosis were observed. Of the remaining 35 028 newborn infants, 299 showed high immunoreactive trypsin values; retesting revealed persistent elevation in 11. Sweat testing confirmed cystic fibrosis in 6 subjects and was normal in 5. Clinical monitoring of these 5 children has, as yet, shown no pathological signs. No false-negative test results have yet been identified. In our region, cystic fibrosis frequency would appear to be 1 case every 5 890 newborn infants. Our study confirms that elevated immunoreactive trypsin is characteristic of newborn infants with cystic fibrosis and that screening by determination of immunoreactive trypsin is of great benefit since it allows early diagnosis and a rational approach to therapy.

Cystic Fibrosis↗
PubMed1985

Psychological consequences of neonatal screening for alpha 1-antitrypsin deficiency. Parental reactions to the first news of their infants' deficiency.

Medical record information and retrospective parental reports at interview indicated that the 61 families were typically first contacted about the child's alpha 1-antitrypsin deficiency (ATD) during its first 6 months of life, when a physician called the mother on the telephone and told her at least something about the child's ATD. Most parents felt they had received unclear or inadequate information. A majority initially conceived of ATD as representing an imminent, serious danger to the child's health. Most of the mothers (78%) and many of the fathers (58%) reported having immediately had negative emotional reactions, most often worry, anxiety and fear. These reactions were often long-lasting and, in mothers, typically strong.

Adult↗
PubMed1985

Psychological consequences of neonatal screening for alpha 1 antitrypsin deficiency (ATD). Parental attitudes toward "ATD-check-ups" and parental recommendations regarding future screening.

The parents of 61 children with ATD typically attended repeated doctor's appointments concerning the child's ATD during the first years of life. Many (30-40%) of the parents felt somewhat relieved about the ATD after the first appointment. Parental attitudes toward the appointments varied considerably within the sample, being related to the physician's reported knowledgeability-understandability regarding ATD and emotional supportiveness (toward mothers). Most parents were positive and few were negative toward the child's ATD having been identified at this age. Repeated blood tests for the child's liver function were experienced negatively by most parents. The parents' recommendations concerning screening and follow-up of ATD in children are presented.

Attitude↗
PubMed1976

Neonatal screening for haemoglobinopathy. Results in 7691 Manchester newborns.

Over a period of one year the blood samples collected for phenylketonuria testing from 7691 Manchester newborns were screened by haemoglobin electrophoresis. An abnormality was detected in 47 (0-61%) of the babies. No cases of homozygous haemoglobinopathy were found. The overall incidence of sickle-cell trait was 0-38%, but for the Black population it was 10%. Four Black babies and one White baby had alpha-thalassaemia. No other haemoglobinopathies were found in the White babies and no Asian baby had alpha-thalassaemia. Haemoglobin A2 was precociously developed in three babies, two of whom were coloured--probably a further example of the earlier maturity of coloured babies. The screening programme was stopped when it became cleaasily be combined with screening for metabolic disease in places where the incidence of haemoglobinopathies is higher.

Black People↗
PubMed1981

Frequency of transient hypothyroxinaemia in low birthweight infants. Potential pitfall for neonatal screening programmes.

Thyroid function was studied in 54 low birthweight infants during a 3-week period. Each infant was placed in one of three groups. Group 1 (n = 21), infants who were well and appropriately grown fro gestational age; group 2 (n = 23), infants who were appropriately grown but who had hyaline membrane disease; group 3 (n = 10), infants who were small-for-gestational-age. In group 1, 5 (24%) infants had at least one serum thyroxine value less than 3.0 micrograms/100 ml (39 nmol/l). There were 8 (35%) infants in group 2 who had similarly low serum thyroxine values as did 5 (50%) of the 10 infants in group 3. Serum thyrotropin levels and serum binding of the thyroid hormones, as measured by a T3-charcoal uptake test, were normal in all infants. In all instances but 2, serum thyroxine values were at least 4.0 micrograms/100 ml (51 nmol/l) by the end of the 3-week period. There is thus a high incidence of transient 'hypothyroxinaemia' in low birthweight infants, particularly if such infants have hyaline membrane disease or are small-for-gestational-age. These findings must be considered when interpreting results of screening programmes for congenital hypothyroidism and they lend further support to the use of a combination of serum thyroxine and thyrotropin determinations for optimum screening of such infants.

Aging↗
PubMed1988

Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-4.

National screening for congenital hypothyroidism was established in the United Kingdom in 1982. During 1982-4, 488 infants with primary congenital hypothyroidism were detected by the 25 regional screening laboratories in England, Wales, and Northern Ireland. In addition, one infant had signs of cretinism at birth and was investigated before the screening test was done and four infants were known to have been missed by the screening programme; among these four infants the initial thyroid stimulating hormone concentrations were normal in two with inherited defects of synthesis of thyroxine, not measured in one, and false negative in one. The overall incidence of primary hypothyroidism was 1:3937 births (boys 1:6640, girls 1:2756). The incidence seemed to be reduced in infants born to black mothers (two cases only) and increased in those born to Asian mothers (61 cases). Congenital anomalies other than those of the thyroid glands were reported in 36 children (7%), and 15 (3%) died from various causes before the age of 4. Infants who were considered to show unequivocal evidence of hypothyroidism started treatment at a median age of 17 days (5th and 95th centiles 10 and 42 days) compared with a median age of 14 days (5th and 95th centiles 9 and 21 days) for infants with classic phenylketonuria also detected by national screening.

Asian People↗
PubMed1988

Neonatal screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone assay in filter paper blood spots.

Screening of infants for congenital adrenal hyperplasia (CAH) using filter paper blood samples collected on the 5th day of life was performed with a radioimmunoassay for 17-hydroxyprogesterone without extraction with organic solvents. A total of 153,000 newborns were screened and 12 cases of CAH were detected (1:12,800). With recall levels related to gestational age, the recall rate could be lowered to 0.05%.

17-alpha-Hydroxyprogesterone↗