[Neonatal screening--present and future].
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In the Federal Republic of Germany screening for cystic fibrosis by the albumin content of meconium (BM-test) is performed on most newborns. In this paper arguments for and against this test are discussed. Arguments in favour of BM-test-screening are the possibility of early diagnosis, early treatment and genetic counseling. Drawbacks of the test are false positive and false negative results. The authors conclude that this screening test should not be performed.
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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).
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