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At least 19 recordsLinked to original sources
PubMedDate not supplied

[Neonatal screening of congenital hypothyroidism. Introduction].

Neonatal screening of congenital hypothyroidism will be generalized in France during the next year, after it has been experienced in three regional areas. The data obtained from these experiences have shown that TSH assay is probably the safest way to detect most cases of thyroid failure in newborns. The Round Table organized by the Societé Française d'Endocrinologie has given opportunity to discuss previous trials and their results, and to prepare the large-scale organization of this new progress in preventive medicine.

Congenital Hypothyroidism↗
PubMed1979

[Systematic neonatal screening for Duchenne muscular dystrophy].

More than 15% of cases of Duchenne muscular dystrophy (DMD) may be preventable by the neonatal diagnosis of another affected relative. Systematic neonatal screening seems a more efficient way of getting information for genetic counseling. The principle of the test described is the detection of a specific increase of the activity of Creatine-Kinase (CK) in the blood of newborn children with myopathy. Blood may be spotted on paper and posted to a central laboratory. Furthermore this program can be integrated into the systematic screening of phenylketonurie. The specificity and accuracy of the bioluminescent reaction used for the evaluation of CK suggest that this screening reaction is reliable. A systematic neonatal screening program for DMD such as ours in the Rhône-Alpes area (France) will lead to frequent recourse to prenatal diagnosis now possible through sex fetal determination and which would be possible through in utero blood sampling.

Creatine Kinase↗
PubMed1976

Neonatal screening for hyperlipoproteinemia. Methods for direct estimation of cord serum VLDL + LDL.

The early detection of hyperlipoproteinemia in newborn infants has so far been based upon estimation of cord blood total lipids (cholesterol and triglyceride) and lipoprotein-lipids (VLDL-, LDL- and HDL-cholesterol). To be able to make a direct estimation of cord serum beta-lipoproteins (VLDL + LDL) two quite different methods were modified, one immunological and the other turbidimetric. Good correlations were found to VLDL- + LDL-cholesterol isolated in the ultracentrifuge (r = 0.848 and 0.831, respectively). If neonatal screening for hyperlipoproteinemia is considered, we recommend the very easy and inexpensive turbidimetric method. Furthermore, using cord serum, two conventional precipitation methods with heparin-CaCl2 and heparin-MnCl2 were compared by ultracentrifugation and high correlations were found (r = 0.923 and 0.899, respectively). A clamping study showed that following early clamping of the cord, the concentration of cord serum lipids and lipoproteins did not change markedly within the first five minutes. Storing experiments showed that serum should be separated within the first 12 h to avoid unpredictable changes in the concentration of cord serum lipids and lipoproteins.

Animals↗
PubMedDate not supplied

[Neonatal screening for hypothyroidism. Nord-Picardie regional experience (author's transl)].

The routine T4 determination from filter paper blood spots, with supplementary T.S.H. and T.B.G. determinations on subnormal T4 values, is a reliable method for neonatal hypothyroidism screening. Preliminary results, presently reported, agree with previous studies. However a larger experience is still necessary to decide the best way for mass-screening of congenital hypothyroidism.

Congenital Hypothyroidism↗
PubMed1978

Effectiveness of neonatal screening for congenital dislocation of the hip.

Despite the examination of neonates for congenital dislocation of the hip, this condition is being diagnosed after the newborn period at a rate not very different from that reported before the introduction of screening. The majority of late-diagnosed cases had been examined after birth, and the sensitivity of the tests used routinely is called into question. Re-examination of all infants at 3-6 months is proposed to reduce the number of missed cases and so minimise late sequelae.

Age Factors↗
PubMedDate not supplied

[Neonatal screening of congenital hypothyroidism with TSH measurement in dried blood spots on filter paper. A two years experience (author's transl)].

Systematic screening for congenital hypothyroidism was started in Lyon in september 1976. This screening was coupled with PKU, using the same dried blood samples on filter paper obtained on the 5th day of life. TSH levels were determined by radioimmunoassay adapted for dried blood samples (Kit Abbott). In 24 months, 56 176 samples were analyzed. The critical level calling for control was successively raised from from 20 to 30, now 40 microUI/ml of serum. A high level of TSH was found in 307 children (0,55%). Pathological deliveries were found in most of these infants (neonatal injury, cesarean, section forceps or ocytocic perfusion, neonatal icterus) and a second or a third measurement showed normal TSH level. Congenital hypothyroidism, was found detected in 18 infants: 12 ectopic gland, 5 athyreosis and 1 dyshormonogenesis. Treatment was begun at a mean age of 38 days (29 to 50 days).

Congenital Hypothyroidism↗
PubMedDate not supplied

[Neonatal screening for congenital hypothyroidism by measuring TSH in dried blood samples. Two years experience in the method (author's transl)].

Systematic screening for congenital hypothyroidism was started in Lyon in September 1976. This screening was coupled with PKU screening, using the same dried blood samples in filter paper obtained on the 5 th day of life. TSH levels were determined by radioimmunoassay adapted for dried blood samples (Kit Abbott). In 24 months, 56 176 samples were analyzed. The critical level calling for control was successively raised from 20 to 30 now 40 muUl/ml of serum. A high level of TSH was found in 307 children (0.55 p. 100). Pathological deliveries were found in most of these infants (neonatal injury, cesarean section, forceps or ocytocic perfusion, neonatal icterus) and a second or a third measurement showed normal TSH level. Congenital hypothyroidism, was detected in 18 infants: 12 ectopic gland, 5 athyreosis and 1 dyshormonogenesis. Treatment was begun at a mean age of 38 days (29 to 50 days). Despite a short follow-up the psychomotor development of the infants seems to be normal in all cases but one (one athyreosis with a neonatal injury and a malformative syndrome).

Blood Specimen Collection↗
PubMed1979

Evaluation of a state-wide neonatal screening programme.

A screening programme which was already established to detect phenylketonuria in the newborn period in South Australia was extended to include screening for galactosaemia, homocystinuria, hereditary tyrosinaemia, histidinaemia, maple syrup urine disease and severe alpha 1-antitrypsin deficiency for a trial period. Later, screening for hypothyroidism was introduced. Results suggest that screening for galactosaemia and hypothyroidism are useful additions to the programme. Screening for trrosinaemia and alpha 1-antitrypsin deficiency produced a high number of requests for repeat samples, causing anxiety and no positive benefit to patients. Homocystinuria, an eminently treatable condition, was not detected, nor was maple syrup urine disease, a much less readily treatable condition. Histidinaemia was detected only once. Screening for tyrosinaemia, alpha 1-antitrypsin deficiency, maple syrup urine disease and histidinaemia has been discontinued. Newborn screening in South Australia currently includes tests for phenylketonuria, hypothydroidism, galactosaemia and homocystinuria.

Amino Acid Metabolism, Inborn Errors↗