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Coordinated system for comprehensive newborn metabolic screening
Insights
Georgia
Area of Science:
- Medical screening
- Pediatric medicine
- Metabolic disorders
Background:
- Expanded newborn screening in Georgia began in September 1978.
- Included phenylketonuria (PKU) and five additional metabolic disorders.
- Aims included initiating therapy within three weeks of birth.
Purpose of the Study:
- To evaluate the effectiveness of expanded newborn screening in Georgia.
- To determine the incidence of detected metabolic disorders.
- To assess the timeliness of diagnosis and initiation of therapy.
Main Methods:
- Screening of 167,458 specimens from infants, with 151,250 from those ≤1 week old.
- Retesting over 90% of 2,299 infants with abnormal screening results.
- Analysis of detection rates and time to diagnosis/treatment for various disorders.
Main Results:
- Detected hyperphenylalaninemia (1/31,579), homocystinuria (1/151,250), galactosemia (1/63,352), transient tyrosinemia (1/3,158), congenital hypothyroidism (1/7,453), and thyroid binding globulin deficiency (1/12,670).
- Average time to therapy initiation was 9.9 days for hyperphenylalaninemia, homocystinuria, and galactosemia.
- Average time to therapy initiation was 21.3 days for congenital hypothyroidism.
Conclusions:
- Expanded newborn screening effectively identified infants with serious metabolic disorders.
- Timely diagnosis and initiation of therapy were achieved for most screened conditions.
- The program demonstrated the feasibility and benefits of comprehensive newborn metabolic screening.
Abstract:
In September 1978 phenylketonuria (PKU) screening in the state of Georgia was expanded to include testing for five additional metabolic disorders. Our goal was to begin therapy within the first three weeks of an infant's life. During the first 22 months, 167,458 specimens were received; 151,250 from infants less than or equal to 1 week of age. During this period 157,893 live births were reported. More than 90% of 2,299 infants with abnormal screening results were retested. The number of cases and incidence of each disease detected were hyperphenylalaninemia, five (1/31,579); maple syrup urine disease, 0 (0/151,250); homocystinuria, one (1/151,250); galactosemia, two (1/63,352); transient tyrosinemia (greater than or equal to 12 mg/dl), 50 (1/3,158); primary congenital hypothyroidism, 17 (1/7,453); and thyroid binding globulin deficiency, ten (1/12,670). For eight children with either hyperphenylalaninemia, homocystinuria, or galactosemia, the average time for retrieval between the initial abnormal screening result ad the first follow-up test was 6.2 days (range three to ten days). Therapy was started by 9.9 days of age (range seven to 17). For the 17 children with congenital hypothyroidism, the retrieval time was 11.6 days (range three to 27) and treatment began by 21.3 days of age (range ten to 69 days).