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PubMed1978

[Neonatal screening for hypothyroidism. Preliminary results from different methods (author's transl)].

In a regional study 2062 newborns were screened for congenital hypothyroidism by determination of TSH in plasma or dried blood spots on the fifth day of life. Three newborns with congenital hypothyroidism were detected. All of them showed high TSH-levels between 462 and 2192 micromicron/ml. One newborn with a congenital goiter had a TSH-level of 143 micromicron/ml. Additionally, in a follow-up study of 50 newborns with jaundice TSH, T4, T3 and reverse T3 during the first 120 h of life were measured. Efficiency of the different methods concerning their applicability to mass screening is discussed.

Congenital Hypothyroidism↗
PubMed1983

Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening.

As already described for cystic fibrosis and Friedreich ataxia, the incidence of PKU in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of PKU parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55-year period. The incidence estimated (between 1/15595 and 1/17815 according to two different formulas) is not very different from the incidence derived from screening programs (almost 1/12000). This indicates that the former method can be applied in Italy to the study of the incidence of other autosomal recessive disorders.

Consanguinity↗
PubMedDate not supplied

[Neonatal screening for congenital hypothyroidism. Experience at a Regional Center].

We examined 107,670 infants born in the Italian region Emilia-Romagna. Capillary blood samples for contemporary T4 and TSH radioimmunoassay were collected on the 3rd, 4th, 5th, 6th, 7th or between the 7th and the 15th day of life on filter paper. In our method the threshold value for recall for a second assay was calculated taking into account the mean - 2 SD of each session for T4, and fixing between 30 and 50 microU/ml the threshold value for TSH. The re-call percentage was 0.74%. 21 subjects confirmed to be affected by congenital hypothyroidism; this corresponds to a frequency in our region of 1 case every 5,127 infants. 12 subjects had a TBG deficiency, this corresponds to a frequency of 1 case every 8,972 infants. No cases of secondary hypothyroidism were found up to date.

Age Factors↗
PubMed1982

A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.

A simple enzyme-multiple auxotroph assay has been developed for the identification of newborn infants with several of the inherited metabolic defects in the Krebs cycle for the detoxification of ammonia and in the ornithine metabolic pathway. This mass screening test is used with dried filter paper blood specimens and can easily be added to existing multiple testing programs presently used in screening for phenylketonuria or congenital hypothyroidism. This assay can be used to detect patients with citrullinemia, argininosuccinic acid lyase deficiency, and argininemia. In addition to these urea cycle disorders, the several types of ornithinemia, which can result in gyrate atrophy of the retina or mental retardation, should be detectable with this assay. The strengths and weaknesses of this assay are discussed and a large-scale pilot screening trial is proposed.

Amino Acid Metabolism, Inborn Errors↗