Expanded Newborn Screening: Information and Resources for the Family Physician

 

Am Fam Physician. 2017 Jun 1;95(11):703-709.

  Patient information: See related handout on newborn screening, written by the author of this article.

Author disclosure: No relevant financial affiliations.

Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own program. State programs encompass screening, as well as the diagnosis and coordination of care for newborns with positive findings. Testing for core disorders is fairly standardized, but more extensive screening varies widely by state, and the rigorous evaluation of new screening panels is ongoing. The core panel includes testing for three main categories of disorders: metabolic disorders (e.g., amino acid and urea cycle, fatty acid oxidation, and organic acid disorders); hemoglobinopathies; and a group of assorted conditions, including congenital hearing loss. Family physicians must be familiar with the expanded newborn screening tests to effectively communicate results to parents and formulate interventions. They must also recognize signs of metabolic disorders that may not be detected by screening tests or that may not be a part of standard newborn screening in their state. For infants with positive screening results leading to diagnosis, long-term follow-up involves ongoing parental education, regular medical examinations, management at a metabolic treatment center, and developmental and neuropsychological testing to detect associated disorders in time for early intervention.

Newborn screening programs are state-mandated public health services aimed at ensuring that the 4 to 5 million infants born each year are screened for certain serious conditions at birth, allowing for treatment before harmful effects can occur.1,2 Although these conditions are rare, they are detected on screening in 5,000 to 6,000 newborns every year. The combined incidence of screened conditions is estimated to be as high as one per 500 to 1,000 births.3 If they are not detected and treated early, these conditions can lead to adverse outcomes, including moderate to severe neuropsychological dysfunction, intellectual developmental disabilities, and death.

WHAT IS NEW ON THIS TOPIC: NEWBORN SCREENING

The Advisory Committee on Heritable Disorders in Newborns and Children recommends that every newborn screening program include a Recommended Uniform Screening Panel that screens for 34 core disorders and 26 secondary disorders.

The American College of Medical Genetics and Genomics has published action sheets and algorithms for physicians to use if a newborn screening result is abnormal. Detailed fact sheets on many disorders have been published in Pediatrics and are available free of charge on the journal's website.

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SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendationEvidence ratingReferences

Newborn screening programs allow for early detection and treatment of serious disorders, and can prevent harmful effects.

C

1, 2

Parents should be informed in person of positive newborn screening results and the need for retesting.

C

6, 7

The American College of Medical Genetics and Genomics action sheets and algorithms can be used to determine appropriate steps after a positive newborn screening result.

C

16

Emergency care for infants with metabolic disorders should be directed by a metabolic subspecialist in collaboration with emergency personnel and the family physician.

C

18


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendationEvidence ratingReferences

Newborn screening programs allow for early detection and treatment of serious disorders, and can prevent harmful effects.

C

1, 2

Parents should be informed in person of positive newborn screening results and the need for retesting.

C

6, 7

The American College of Medical Genetics and Genomics action sheets and algorithms can be used to determine appropriate steps after a positive newborn screening result.

C

16

Emergency care for infants with metabolic disorders should be directed by a metabolic subspecialist in collaboration with emergency personnel and the family physician.

C

18


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

To encourage uniform and comprehensive newborn screening across the states, the Advisory Committee on Heritable Disorders in Newborns and Children was chartered in 2015. The committee advises the Secretary of Health and Human Services on the most appropriate application

The Author

DAVID GLENN WEISMILLER, MD, ScM, FAAFP, is a professor in the Department of Family and Community Medicine at the University of Nevada, Las Vegas School of Medicine.

Address correspondence to David Glenn Weismiller, MD, University of Nevada, Las Vegas School of Medicine, 2410 Fire Mesa St., Ste. 180, Las Vegas, NV 89128 (e-mail: david.weismiller@unlv.edu). Reprints are not available from the author.

Author disclosure: No relevant financial affiliations.

REFERENCES

show all references

1. Kemper AR, Green NS, Calonge N, et al. Decision-making process for conditions nominated to the Recommended Uniform Screening Panel; statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med. 2014;16(2):183–187....

2. Advisory Committee on Heritable Disorders in Newborns and Children. Recommended Uniform Screening Panel. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html. Accessed March 1, 2017.

3. Scriver CR, ed. The Metabolic and Molecular Bases of Inherited Disease 8th ed. New York, NY: McGraw-Hill; 2001.

4. Ross LF. Mandatory versus voluntary consent for newborn screening? Kennedy Inst Ethics J. 2010;20(4):299–328.

5. Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015;39(3):171–187.

6. Salm N, Yetter E, Tluczek A. Informing parents about positive newborn screen results: parents' recommendations. J Child Health Care. 2012;16(4):367–381.

7. Davis TC, Humiston SG, Arnold CL, et al. Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts. Pediatrics. 2006;117(5 pt 2):S326–S340.

8. Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis. 2006;29(5):677–682.

9. Rose NC, Dolan SM. Newborn screening and the obstetrician. Obstet Gynecol. 2012;120(4):908–917.

10. Lipstein EA, Perrin JM, Waisbren SE, Prosser LA. Impact of false-positive newborn metabolic screening results on early health care utilization. Genet Med. 2009;11(10):716–721.

11. Waisbren SE. Expanded newborn screening: information and resources for the family physician. Am Fam Physician. 2008;77(7):987–994.

12. Saudubray JM. van den Berghe G. Walter JH, eds. Inborn Metabolic Diseases. 5th ed. New York, NY: Springer, 2012.

13. Johns Hopkins University. Online mendelian inheritance in man. An online catalog of human genes and genetic disorders. http://www.omim.org. Accessed September 1, 2016.

14. Waisbren SE, Landau Y, Wilson J, Vockley J. Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. Dev Disabil Res Rev. 2013;17(3):260–268.

15. Wilcken B, Haas M, Joy P, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet. 2007;369(9555):37–42.

16. American College of Medical Genetics. ACMG ACT sheets and confirmatory algorithms. http://www.ncbi.nlm.nih.gov/books/NBK55827. Accessed March 1, 2017.

17. Kaye CI, Accurso F, La Franchi S, et al.; Committee on Genetics. Newborn screening fact sheets. Pediatrics. 2006;118(3):e934–e963.

18. New England Consortium of Metabolic Programs. Boston Children's Hospital. http://newenglandconsortium.org/for-professionals/acute-illness-protocols/. Accessed March 1, 2017.

 

 

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