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[Neonatal screening for hypothyroidism by simultaneous determination of T4 and TSH on filter paper (author's transl)].

A simultaneous determination of T4 and TSH has been done on 48 000 new borns since January 1st of 1977 in the Midi-Pyrénées district. 15 cases of hypothyroidism have been detected, an incidence of 1/3 200 new borns. TSH values always were above 80 microU/ml; T4 values are under m-2 sigma in 11 cases, normal in 2 cases (8,8 and 9 micrograms/dl) and between -1 and - 2 sigma in 2 cases. A thyroid scanning with 123 odine or 99 Tech, has shown the absence of thyroid in 6 cases, an ectopic gland in 7 cases and a thyroid in a normal position in one case. A treatment has been possible before the first month of life in each case. The average D.Q. for the seven oldest new borns (m = 11 months) is 96. The simultaneous determination of T4 and TSH is a sensitive and specific screening method for hypothyroidism. False-negative are avoided and the number of false-positive results is reduced. All cases of hypothyroidism can be detected (primary hypothyroidism, hypothalamo-hypopituitary hypothyroidism, TBG deficiency, etc...) Then, an early and certain diagnosis is made possible (T4 low and TSH increased).

Congenital Hypothyroidism↗
PubMed1979

[Alpha-thalassemia in Puglia. II. Neonatal screening for Bart's hemoglobin].

550 blood specimens from the umbilical cord of newborn babies from Apulia have been screened in order to detect Hb Bart's. The electrophoresis of the haemoglobin by Cellogel (Tris Glycine pH 8.6) carried out on the 550 specimens have revealed in 43 variable quantities of Hb Bart's: 34 cases (6,18%) showed non measurable quota, whereas in the other 9 cases (1,63%) Hb Bart's varied from 2,19% to 26%. The haemoglobin biosynthesis "in vitro" of the baby presenting 26% of Hb Bart's has been reported.

Fetal Blood↗
PubMed1979

Screening for neonatal hypothyroidism by thyroxine and thyrotrophin radioimmunoassays using dried blood samples on filter paper.

A routine and automatized methodology for thyroxine (T4) and thyrotrophin (TSH) radioimmunoassay (RIA) using dried blood samples on filter paper is described. T4-RIA was performed on one single dot (5 mm diameter equivalent to 4 microliters of serum) while two dots were necessary for TSH-RIA. Reference filter papers were introduced in each assay for quality control. In a preliminary study on 4,155 neonates, samples generally obtained between the 5th--7th day gave a mean 'dot-T4' of 97.95 +/- 36.04 nmol/l and a mean 'dot-TSH' of 10.19 mU/l +/- 8.25, corresponding to 2.47 mU/l of serum. Within an 18-month period (November 1976-April 1978), a total of 16.522 neonates have been screened allowing detection of three cases of congenital hypothyroidism (incidence 1 : 5507), two cases of congenitally low TBG and thirty-three cases of transient hypothyroidism.

Female↗
PubMed1979

A rapid double antibody non-equilibrium serum thyrotropin radioimmunnoassay suitable for primary neonatal hypothyroidism screening.

An improved double antibody radioimmunoassay for measuring human thyrotropin (h-TSH) in serum, suitable for neonatal primary hypothyroidism screening is described. The assay employs a non-equilibrium double antibody technique performed at an initial 37 degrees C followed by incubation at room temperature. Studies on the effects of various reaction parameters including time, temperature, antigen and antibody concentrations and the effect of various carrier proteins on the performance of standard curves were also performed. Using a 100-microliter serum sample for analysis, the assay sensitivity is routinely between 3 and 6 microU/mol of h-TSH (MRC 68/38) with interassay and intra-assay coefficient of variation values ranging from 6 to 14% over a wide range of control values. The incubation and phase separation is completed after 26 h with data available following automated counting and computation. Such a rapid assay facilitates a neonatal screening program for the early detection and treatment of primary neonatal hypothyroidism using either cord blood serum or early follow-up serum sampling in infants suspected on initial screening tests of an abnormality.

Cold Temperature↗
PubMed1976

alpha1-Fetoprotein measurement in blood spotted on paper: discriminating test for hereditary tyrosinemia in neonatal mass screening.

We describe an electroimmunodiffusion technique for measuring alpha1-fetoprotein in blood spotted on chromatography paper. The system is being used as a complementary test in a neonatal mass-screening program for detection of inborn metabolic diseases in the Province of Quebec. In a series of 102 cases of neonatal hypertyrosinemia, the test has proven to be highly discriminative for hereditary tyrosinemia. It has permitted early detection of eight cases of this disease, including two that would have been missed by the previously used screening procedure, tyrosine measurement only. The test not only virtually eliminates the risk of misdiagnosis or missed diagnosis, but also permits earlier diagnosis of hereditary tyrosinemia and considerably reduces the follow-up work required for newborns with transitory tyrosinemia. The AFP test is simple, fast, practical, and inexpensive. Combined with tyrosine determination, it constitutes an optimal device for mass screening of hereditary tyrosinemia.

Amino Acid Metabolism, Inborn Errors↗