Recommendation Statement
In 1996, the U.S. Preventive Services Task Force (USPSTF) reviewed the evidence for screening for sickle cell disease in newborns and recommended screening. In 2007, the USPSTF performed a brief literature review and determined the benefits of screening continue to be well established.
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Contents
Summary of Recommendations and Evidence
Clinical Considerations
Other Considerations
Discussion
Recommendations of Others
References
Members of the USPSTF
The U.S. Preventive Services Task Force (USPSTF) makes recommendations about preventive care services for patients without recognized signs or symptoms of the target condition.
Recommendations are based on a systematic review of the evidence of the benefits and harms and an assessment of the net benefit of the service.
The USPSTF recognizes that clinical or policy decisions involve more considerations than this body of evidence alone. Clinicians and policy-makers should understand the evidence but individualize decision-making to the specific patient or situation.
Summary of Recommendation and Evidence
- The U. S. Preventive Services Task Force (USPSTF) recommends screening for sickle cell disease in newborns. (This is an A recommendation)
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Rationale
Importance: Sickle cell anemia (hemoglobin SS) affects 1 in 375 African American newborns born in the United States and smaller proportions of children in other ethnic groups. Without prompt diagnosis and the initiation of prophylactic antibiotics and pneumococcal conjugate vaccination by 2 months of age, children with sickle cell anemia are vulnerable to life-threatening pneumococcal infections.1
Detection: In the United States, most state-based screening programs utilize thin-layer isoelectric focusing (IEF) or high performance liquid chromatography (HPLC) techniques performed on capillary blood collected from a heel stick and absorbed onto filter paper. The sensitivity and specificity of each of these tests approaches 100%.2
Benefits of detection and early intervention: There is good evidence that early detection of sickle cell anemia followed by prophylactic oral penicillin substantially reduces the risk of serious infections during the first few years of life. Additional benefits result from pneumococcal conjugate vaccination and parental education about early warning signs of infection. Finally, detection of sickle cell disease permits counseling for family members about disease management and future reproductive decisions.
Harms of detection and early treatment: Incidental detection of sickle cell carrier status and hemoglobin disorders of questionable clinical significance has the potential to cause psychosocial harms, which may include exposure of non-paternity, stigma and discrimination, negative impact on self-esteem, and anxiety about future health.
The USPSTF concludes that there is high certainty that the net benefit of screening for sickle cell disease in newborns is substantial.
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Clinical Considerations
Patient Population Under Consideration
This recommendation applies to all newborns.
Screening Tests
Screening for sickle cell disease in newborns is mandated in all 50 states and the District of Columbia. Most states use either thin-layer isoelectric focusing (IEF) or high performance liquid chromatography (HPLC) as the initial screening test. Both methods have extremely high sensitivity and specificity for sickle cell anemia. Specimens must be drawn prior to any blood transfusion due to the potential for a false negative result as a result of the transfusion. Extremely premature infants may have false positive results when adult hemoglobin is undetectable.3
Timing of Screening
All newborns should undergo testing regardless of birth setting. In general, birth attendants should make arrangements for samples to be obtained, and the first physician to see the child at an office visit should verify screening results. Confirmatory testing should occur no later than 2 months of age.
Treatment
Children with sickle cell anemia should begin prophylactic penicillin by 2 months of age and receive pneumococcal immunizations at recommended intervals.
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Other Considerations
Research Needs/Gaps
Screening tests will identify approximately 50 sickle cell carriers for every infant diagnosed with sickle cell disease. Research is needed to determine the psychosocial effects of communicating newborn carrier status information, and to identify the types of counseling practices most likely to benefit families and minimize harmful effects. Research is also needed on alternative methods of screening capable of identifying only clinically significant hemoglobinopathies.
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Discussion
In 1996, the USPSTF reviewed the evidence for screening for sickle cell disease in newborns and recommended screening.1 In 2007, the USPSTF performed a brief literature review and determined the benefits of screening continue to be well established. This update included a search for new and substantial evidence on the benefits and harms of screening.4 The USPSTF found no new substantial evidence on the benefits and harms of screening for sickle cell disease in newborns, and therefore reaffirms its recommendation that all newborns be screened for sickle cell disease. The 1996 recommendation statement and supporting materials, and the 2007 summary of the updated literature search, can be found at http://www.preventiveservices.ahrq.gov.
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Recommendations of Others
The American Academy of Family Physicians,5 the American Academy of Pediatrics,6 and the American College of Medical Genetics7 strongly recommend universal newborn screening for sickle cell disease.
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References
1. U.S. Preventive Services Task Force. Screening for Hemoglobinopathies. In: Guide to Clinical Preventive Services, 2nd edition. Alexandria, VA: International Medical Publishing; 1996:485-94.
2. Lorey F, Cunningham G, Shafer F, Lubin B, Vichinsky E. Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2.2 million screens. Eur J Hum Genet 1994;2(4):262-71.
3. National Institutes of Health. The Management of Sickle Cell Disease, 4th Ed. revised June 2002. NIH National Heart, Lung and Blood Institute. NIH Publication No. 02-2117. http://www.nhlbi.nih.gov/health/prof/blood/sickle/sc_mngt.pdf. Accessed August 2, 2007.
4. Lin K, Barton M. Screening for Hemoglobinopathies in Newborns: A reaffirmation update for the US Preventive Services Task Force. Evidence Synthesis #52. Rockville, MD: Agency for Healthcare Research and Quality. AHRQ Pub No. 07-05104-EF-1. Available at http://www.ahrq.gov/clinic/serfiles.htm#sicklecell.
5. American Academy of Family Physicians. Summary of Recommendations for Clinical Preventive Services. Revision 6.3, March 2007, p. 8: Hemoglobinopathies. Available at: http://www.aafp.org/online/en/home/clinical/exam.html. Accessed August 2, 2007.
6. Kaye CI, Accurso F, La Franchi S, et al. Newborn screening fact sheets. Pediatrics 2006;118(3):e934-63.
7. American College of Medical Genetics. Newborn screening: toward a uniform screening panel and system. Genetics in Medicine 2006;8(5, Suppl):1S-11S.
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Members of the U.S. Preventive Services Task Force
Corresponding Author: Ned Calonge, MD, MPH, Chair, U.S. Preventive Services Task Force, c/o Program Director, USPSTF, Agency for Healthcare Research and Quality, 540 Gaither Road, Rockville, MD 20850.
Members of the U.S. Preventive Services Task Force* are Ned Calonge, MD, MPH, Chair, USPSTF (Chief Medical Officer and State Epidemiologist, Colorado Department of Public Health and Environment, Denver, CO); Diana B. Petitti, MD, MPH , Vice-chair, USPSTF (Adjunct Professor, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Sierra Madre, CA);Thomas G. DeWitt, MD (Carl Weihl Professor of Pediatrics and Director of the Division of General and Community Pediatrics, Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, OH); Allen J. Dietrich, MD (Associate Director for Population Sciences, Dartmouth Medical School, Hanover, NH); Leon Gordis, MD, MPH, DrPH (Professor, Epidemiology Department, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD); Kimberly D. Gregory, MD, MPH (Director, Women’s Health Services Research and Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA); Russell Harris, MD, MPH (Professor of Medicine, Sheps Center for Health Services Research, University of North Carolina School of Medicine, Chapel Hill, NC); George Isham, MD, MS, (Medical Director and Chief Health Officer, HealthPartners, Minneapolis, MN); Michael L. LeFevre, MD, MSPH (Professor, Department of Family and Community Medicine, University of Missouri School of Medicine, Columbia, MO); Rosanne M. Leipzig, MD, PhD (Professor, Department of Geriatrics and Adult Development, Medicine, and Health Policy; Vice Chair for Education; Mount Sinai School of Medicine, New York, NY): Carol Loveland-Cherry, PhD, RN (Executive Associate Dean, Office of Academic Affairs, University of Michigan School of Nursing, Ann Arbor, MI); Lucy N. Marion, PhD, RN (Dean and Professor, School of Nursing, Medical College of Georgia, Augusta, GA); Virginia A. Moyer, MD, MPH (Professor, Department of Pediatrics, University of Texas Health Science Center, Houston, TX); Judith K. Ockene, PhD (Professor of Medicine and Chief of Division of Preventive and Behavioral Medicine, University of Massachusetts Medical School, Worcester, MA); George F. Sawaya, MD (Associate Professor, Department of Obstetrics, Gynecology, and Reproductive Sciences and Department of Epidemiology and Biostatistics, University of California, San Francisco, CA); and Barbara P. Yawn, MD, MSc (Director of Research, Olmstead Research Center, Rochester, MN).
*Members of the Task Force at the time this recommendation was finalized. For a list of current Task Force members, go to http://www.ahrq.gov/clinic/uspstfab.htm.
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Copyright Information
This document is in the public domain within the United States. For information on reprinting, contact Randie Siegel, Director, Division of Printing and Electronic Publishing, Agency for Healthcare Research and Quality, 540 Gaither Road, Rockville, MD 20850.
Requests for linking or to incorporate content in electronic resources should be sent to: info@ahrq.gov.
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AHRQ Publication No. 07-05104-EF-2
Current as of September 2007
Internet Citation:
U.S. Preventive Services Task Force. Screening for Sickle Cell Disease in Newborns: U.S. Preventive Services Task Force Recommendation Statement. AHRQ Publication No. 07-05104-EF-2, September 2007. Agency for Healthcare Research and Quality, Rockville, MD. http://www.ahrq.gov/clinic/uspstf07/sicklecell/sicklers.htm
540 Gaither Road Rockville, MD 20850