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PubMed1978

Evaluation of the expanded newborn screening program in New York City.

Since September 1974, New York State public health law has mandated that all newborn infants be tested for phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, galactosemia, adenosine deaminase deficiency, and sickle cell anemia in accordance with regulations of the state commissioner of health. During the period from May 1, 1975, to April 30, 1976, a total of 110,180 babies born in New York City were tested for these seven conditions. One year's experience with the screening program demonstrated a paucity of technological problems, low observed rate of both false-negatives and -positives, and the expected incidence of the conditions of highest prevalence, incidentally found during screening: i.e., sickle cell traits, AS and AC. What is equally apparent in reviewing this first year's experience is the extent to which the New York State law, its structure, and implementation have fallen short of the ultimate objective. The major reason for this failure is lack of funds and facilities in the areas of education, case retrieval, continuing medical care, and counseling. This report is presented with the hope that it will benefit all involved in genetic screening and especially those concerned with establishing similar programs.

Adenosine Deaminase↗
PubMed1978

[Screening newborn infants for phenylketonuria, histadinemia, homocystinuria and maple syrup disease. Results from north rhein-westphalia (1974-1976) (author's transl].

In North Rhein-Westphalia, 181 patients with phenylketonuria and 81 children with persistent phenylalaninemia were found from 1966-1973 during the phenylketonuria screening by the National Hygienic and Bacteriological Investigation Officials and the work of the Agency for tracing psychic disorders of metabolic origin. Continuation of the screenings and the work of the agency revealed 44 subjects with classical phenylketonuria and 27 with persistent phenylalaninemia between 1974 and 1976.

Amino Acid Metabolism, Inborn Errors↗