Coordinated system for comprehensive newborn metabolic screening

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.