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MNAAP Newsletter

Newborn Screening: New Disorders and the Changing Landscape

SheldonBerkowitzBy Sheldon Berkowitz, MD, FAAP, MNAAP Board of Directors; Maggie Dreon, MS, CGC, Amy Gaviglio, MS, CGC, Sondra Rosendahl, MS, CGC, Minnesota Department of Health Newborn Screening Program

Minnesota has a long history of being a leader in newborn screening, often being one of the first states to tackle a new initiative or add a new disorder. Over the past year, Minnesota’s Newborn Screening program has been working to bring three disorders to Minnesota’s panel: mucopolysaccharidosis type I (MPS I), Pompe disease, and X-linked adrenoleukodystophy (X-ALD).

Adding a new condition always brings with it new challenges, and these three disorders present several novel issues not previously encountered in newborn screening. Because these conditions have variable severity, age of onset, and treatment efficacy, the role of the primary care provider (PCP) in follow-up of positive screens will be increasingly vital and ongoing.

Take X-ALD, for example. There are three types of X-ALD and screening cannot clearly distinguish among them: childhood cerebral, adrenomyeloneuropathy, and Addison’s disease only. Furthermore, diagnostic testing is often unable to determine type until symptoms present. In X-ALD, treatment isn’t usually initiated until the onset of symptoms, which can take years to develop. Even individuals with the childhood cerebral type (the most severe and earliest onset type), may not show symptoms prior to four years of age. This means that PCPs will need to work with specialists to monitor their patients for symptom onset for longer than they have had to do for newborn screening conditions in the past. This later age of onset puts families—and PCPs—in a “sit and wait” situation. The risk is that families will become complacent with waiting, will stop following up, and then miss the key features of the disorder that show onset has occurred. Once onset occurs, the impact of the disease is irreversible, making the goal of catching symptoms early essential and the relationship between the family and PCP critical.

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Borderline Results – A Newborn Screening Perspective


By Sondra Rosendahl, MS, CGC; Maggie Dreon, MS, CGC; Amy Gaviglio, MS, CGC; and Beth-Ann Bloom, MS, CGC, 
Certified genetic counselors with the Minnesota Department of Health Newborn Screening Program

Newborn screening is the process of identifying newborns at risk for hidden, rare disorders and connecting them with health care providers who coordinate early diagnosis and treatment. In newborn screening, we often focus our educational efforts on describing scenarios of what happens when there is a positive or abnormal result. But what about the most common non-negative result seen in newborn screening? The borderline result.

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Collaborative Grant to Study Integrated Newborn Screening Hearing and CMV Screening in MN

MarkSchleissBy Mark R. Schleiss, MD, Division Director, Pediatric Infectious Diseases and Immunology, U of M Medical School

A new grant has enabled establishment of a research partnership between Children’s Hospitals and Clinics of Minnesota and the University of Minnesota Medical Center (UMMC), aimed at evaluation of newborn infants who fail newborn hearing screening for possible congenital infection with cytomegalovirus (CMV).

CMV is the most common cause of congenital infection in pediatric practice, and is responsible for up to 30 percent of all cases of hearing loss in childhood. Although CMV can cause severe, clinically evident injury in newborns, consisting of features such as hepatosplenomegaly, microcephaly, and rash, most infants with congenital infection are in fact asymptomatic. Approximately 10-15 percent of asymptomatic congenitally infected infants will have hearing loss due to CMV infection.

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New Newborn Screening Bill Effective August 1, 2014

On May 6, Governor Dayton signed the newborn screening restoration bill into law with the full support of the Minnesota Chapter of the American Academy of Pediatrics (MNAAP) and other medical organizations. The new law, which went into effect August 1, positions Minnesota to save as many lives as possible while upholding parents’ rights to refuse testing, request destruction of blood spots/test results, or both.

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Have You Heard? MN has Updated its EHDI Guidelines

By Michael Severson, MD, FAAP, pediatrician and EHDI Advisory Board Member; Faith Kidder, CPNP, Child and Teen Checkups at the Minnesota Department of Health, and Cara Weston, Newborn & Child Follow Up Unit at the Minnesota Department of Health

Hearing screeners in Minnesota have a valuable new resource in the Guidelines for Hearing Screening after the Newborn Period to Kindergarten Age, recently approved by the Minnesota Newborn Hearing Screening Advisory Committee.

The new guidelines provide Minnesota-specific information and resources, including details on screening equipment, protocols, and pass/refer criteria, as well as Individuals with Disabilities Education Act (IDEA) Part C and Part B referral and evaluation. They also clarify documentation and reporting requirements.

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