Reaffirmation Recommendation Statement
March 2008
Summary of Recommendation: The United States Preventive Services Task Force (USPSTF) recommends screening for phenylketonuria (PKU) in newborns. (This is a grade "A" recommendation.)
This recommendation statement was first published in the Annals of Family Medicine. Select for copyright and source information.
Contents
Summary of Recommendation
Clinical Considerations
Discussion
Recommendations of Other Groups
Members of the USPSTF
References
Summary of Recommendation
- The USPSTF recommends screening for phenylketonuria (PKU) in newborns.
Rating: "A" recommendation.
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Rationale:
Importance: PKU is an inborn error of phenylalanine metabolism that
occurs in from 1 per 13,500 to 1 per 19,000 newborns in the United States. In the absence of treatment during infancy, most persons with this disorder will
develop severe mental retardation.1,2
Detection: Two approaches, fluorometry and tandem mass spectrometry,
are in common use. The sensitivity and specificity of fluorometry are 100% and
51%, respectively, and of tandem mass spectrometry, 100% and 98%,
respectively.3
Benefits of Detection and Early Treatment: There is
good evidence that detection by neonatal screening and early treatment of PKU
substantially improve neurodevelopmental outcomes for affected persons.
Harms of Detection and Early Treatment: False-positive tests could generate considerable parental
anxiety.
USPSTF Assessment: The
USPSTF concludes that there is high certainty that the net benefit is
substantial for screening for PKU in newborns.
Clinical Considerations
Patient Population
This
recommendation applies to newborns.
Screening Tests
Screening
for PKU is mandated in all 50 states, though methods of screening vary. There
are three principal methods used for PKU screening in the United States: the Guthrie Bacterial Inhibition Assay (BIA), automated fluorometric assay,
and tandem mass spectrometry. Screening tests are most accurate if performed
after 24 hours of life but before the infant is 7 days old.
Treatment
It is essential that phenylalanine restrictions be
instituted shortly after birth to prevent the neurodevelopmental effects of
PKU.
Timing of Screening
Infants
who are tested within the first 24 hours after birth should receive a repeat
screening test by 2 weeks of age. Premature infants and those with illnesses
should be tested at or near 7 days of age, but in all cases before newborn
nursery discharge.
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Discussion
In 1996 the USPSTF reviewed the evidence for screening for
PKU in newborns and found that the benefits substantially outweighed the harms
of screening. The benefits of screening for PKU continue to be well
established. This update focused on 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 PKU and
therefore, reaffirms that clinicians should screen for PKU in newborns. The
1996 recommendation statement, the 1996 evidence report, and the summary of the
updated literature search can be found at www.preventiveservices.ahrq.gov.
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Recommendations of Other Groups
According to the American Academy of Pediatrics, PKU
screening should occur in newborns older than 24 hours and younger than 7 days.
Infants screened before 24 hours of life should be re-screened by 2 weeks of
age to detect possible missed cases. All infants should be screened at the time
of nursery discharge or transfer regardless of age. Sick infants and premature
infants should be screened by 7 days of age, regardless of feeding history or
antibiotic treatment.5 The American Academy of Family Physicians strongly
recommends that physicians screen neonates for phenylketonuria.6 The American
College of Medical Genetics recommends that PKU screening be mandated as part
of state newborn screening programs.7
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Members of the U.S. Preventive Services Task Force*
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 (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); 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); 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); Albert
L. Siu, MD, MSPH (Professor and Chairman, Brookdale Department of Geriatrics
and Adult Development, Mount Sinai Medical Center, New York, NY); Steven M.
Teutsch, MD, MPH (Executive Director, Outcomes Research and Management, Merck
& Company, Inc., West Point, PA); and Barbara P. Yawn, MD, MSPH, MSc (Department of Research, Olmsted Medical 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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References
1. U.S. Preventive Services Task Force. Screening for Phenylketonuria. In: Guide to Clinical Preventive
Services, 2nd ed.: U.S. Department of Health and Human Services; 1996.
2. National Institutes of
Health Consensus Development Conference Statement: phenylketonuria: screening
and management, October 16-18, 2000. Pediatrics 2001;108(4):972-82.
3. Pandor A, Eastham J,
Beverley C, Chilcott J, Paisley S. Clinical effectiveness and
cost-effectiveness of neonatal screening for inborn errors of metabolism using
tandem mass spectrometry: a systematic review. Health Technol Assess
2004;8(12):iii, 1-121.
4. Mabry-Hernandez I,
Wolff T, Green K. Screening for phenylketonuria: a literature update for the
U.S. Preventive Services Task Force. AHRQ Publication No. 08-05110-EF-1. Rockville, MD: Agency for Healthcare Research and Quality, 2008. http://www.ahrq.gov/clinic/uspstf/uspsspku.htm.
5. Committee on Genetics.
Newborn Screening Fact Sheets. Pediatrics 1996;98(3):473-501.
http://pediatrics.aappublications.org/cgi/content/abstract/98/3/473. Accessed
September 27, 2007.
6. American Academy of Family Physicians. Summary of Recommendations for Clinical Preventive Services.
2005; Revision 6.0. http://www.aafp.org/online/etc/medialib/aafp_org/documents/clinical/CPS/rcps08-2005.Par.0001.File.tmp/RCPS_August2005.pdf.
Accessed September 27, 2007.
7. American College of Medical Genetics. Newborn screening: toward a uniform screening panel and system.
Genet Med 2006; 8(Suppl 1):1S-252S. http://www.acmg.net/resources/policies/NBS/NBS-sections.htm. Accessed
February 25, 2008.
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Copyright Information
Source: U.S. Preventive Services Task Force. Screening for phenylketonuria (PKU): U.S. Preventive Services Task Force reaffirmation recommendation rtatement. Annals of Family Medicine 2008;6(2):166.
Available online at http://www.annfammed.org/cgi/content/full/6/2/166/DC1
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AHRQ Publication No. 08-05110-EF-2
Current as of March 2008
Internet Citation:
U.S. Preventive Services Task Force. Screening for Phenylketonuria (PKU): U.S. Preventive Services Task Force Reaffirmation Recommendation Statement. AHRQ Publication No. 08-05110-EF-2, March 2008. Agency for Healthcare Research and Quality, Rockville, MD. http://www.ahrq.gov/clinic/uspstf08/pku/pkurs.htm
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