Putting Prevention into Practice

An Evidence-Based Approach

Screening for Sickle Cell Disease in Newborns



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Am Fam Physician. 2009 Mar 15;79(6):507-508.

This clinical content conforms to AAFP criteria for evidence-based continuing medical education (EB CME). See CME Quiz on page 451.

Case Study

E.C. is a 28-year-old black woman. She and her husband arrive for their three-day-old son’s appointment. The infant, L.C., was born at home with a lay midwife after an uncomplicated pregnancy. He is full-term and appears healthy. However, during the discussion you discover that the lay midwife did not perform any screenings or tests on L.C.

Case Study Questions

  1. Which one of the following statements best reflects the U.S. Preventive Services Task Force (USPSTF) recommendation about screening newborns for sickle cell disease?

    • A. Infants who show no symptoms of sickle cell disease within 48 hours of delivery do not need to be tested.

    • B. Screening for sickle cell disease is strongly recommended for all newborns.

    • C. Infants should not be screened for sickle cell disease because there is no advantage to early diagnosis.

    • D. Black infants should be screened for sickle cell disease because it is more common in blacks than in other ethnic groups.

    • E. Infants should be screened only if either parent is a carrier for sickle cell disease.

  2. One week after the visit, you inform the parents that L.C.’s initial screening test was positive for sickle cell anemia. The parents ask if they can postpone confirmatory testing for three months until they return from a planned trip. Which of the following should be considered in the decision about further testing for L.C.?

    • A. Confirmatory testing may be postponed up to one year.

    • B. Screening tests for sickle cell disease have low specificity and a high false-positive rate.

    • C. Confirmatory testing should occur no later than two months of age.

    • D. There is good evidence that early detection and treatment of sickle cell anemia reduces the risk of serious infections during the first few years of life.

  3. L.C.’s family delays their trip for a few days, and follow-up tests confirm that L.C. has sickle cell anemia. According to the USPSTF, which of the following statements about detection and early intervention in children with sickle cell anemia are correct?

    • A. Children with sickle cell anemia should wait until they show symptoms before being treated.

    • B. Children with sickle cell anemia should begin prophylactic penicillin by two months of age.

    • C. Children with sickle cell anemia should receive pneumococcal immunization at recommended intervals.

    • D. Knowing a child’s status can help parents learn more about managing sickle cell anemia, and allows them to consider future reproductive decisions.

Answers appear on the following page.

Answers

1. The correct answer is B. The USPSTF strongly recommends screening for sickle cell disease in newborns. Sickle cell anemia (hemoglobin SS) affects one in 375 black newborns born in the United States and smaller proportions of children in other ethnic groups.

2. The correct answers are C and D. Confirmatory testing should occur no later than two months of age. Without prompt diagnosis and the initiation of prophylactic antibiotics and pneumococcal conjugate vaccination by two months of age, children with sickle cell anemia are vulnerable to life-threatening pneumococcal infections. Most state-based screening programs in the United States use thin-layer isoelectric focusing or high-performance liquid chromatography techniques for testing. The sensitivity and specificity of each test approaches 100 percent.

3. The correct answers are B, C, and D. There is good evidence that early detection of sickle cell anemia, followed by prophylactic penicillin, substantially reduces the risk of serious infections during the first few years of life. Other benefits include the initiation of pneumococcal conjugate vaccination and parental education about early warning signs of infection. Additionally, the detection of sickle cell disease can encourage family members to seek counseling about disease management and future reproductive decisions.

SOURCES

U.S. Preventive Services Task Force. Screening for sickle cell disease in newborns: U.S. Preventive Services Task Force recommendation statement. Agency for Healthcare Research and Quality; 2007http://www.ahrq.gov/clinic/uspstf07/sicklecell/sicklers.htm. Accessed January 7, 2009.

Lin K, Barton MB. Screening for hemoglobinopathies in newborns: reaffirmation update for the US Preventive Services Task Force Evidence synthesis no 52. Rockville, Md.: Agency for Healthcare Research and Quality. http://www.ahrq.gov/downloads/pub/prevent/pdfser/sicklecelles.pdf. Accessed January 7, 2009.

The case study and answers to the following questions on screening for sickle cell disease in newborns are based on the recommendations of the U.S. Preventive Services Task Force (USPSTF), an independent panel of experts in primary care and prevention that systematically reviews the evidence of effectiveness and develops recommendations for clinical preventive services. More detailed information on this subject is available in the USPSTF Recommendation Statement and the evidence synthesis on the USPSTF Web site (http://www.ahrq.gov/clinic/uspstfix.htm). The evidence synthesis and Recommendation Statement are available in print through the AHRQ Publications Clearinghouse (800-358–9295, e-mail, ahrqpubs@ahrq.hhs.gov). The practice recommendations in this activity are available at http://www.ahrq.gov/clinic/uspstf/uspshemo.htm.


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