α-Fetoprotein Screening

Abstract

The Committee on Genetics of the American Academy of Pediatrics endorses the following guidelines for maternal α-fetoprotein screening, developed by the American Society of Human Genetics.1 Before maternal serum α-fetoprotein (MSAFP) screening is started, the following minimal criteria should be met. 1. Adequate physician/health professional education: The objective of this education is to assure that physicians and other health care professionals understand the nature and range of severity of each of the detectable conditions and anomalies, the objectives of screening and testing, the importance of timing and reporting the low predictive value of test results, and the follow-up procedures and counseling. 2. Access to a qualified MSAFP and amniotic fluid α-fetoprotein laboratory: Criteria for quality control in these laboratories are detailed in the full statement. 3. Adequate facilities and personnel for follow-up of abnormally high or low MSAFP values: Counseling, level I and level II sonography, amniocentesis, and qualitative amniotic fluid acetylcholin-esterase assay should be available. 4. Adequate patient education: Information should be provided on the nature of the defects detectable by MSAFP screening, on confirmatory procedures, and on the options available should an abnormal result be confirmed. The optimal time for MSAFP screening is between 16 and 18 weeks of gestation. The common MSAFP screening protocol would include: first serum specimen evaluation, second serum specimen evaluation (if indicated), counseling, ultrasonography, amniocentesis, amniotic fluid α-fetoprotein testing (acetylcholinesterase and fetal blood evaluation), karotyping. Once the program is underway, physician's offices, laboratories, and referral centers should have staff available who can answer questions concerning procedures related to MSAFP screening.