Ensuring the Life-Span Benefits of Newborn Screening

Kemper, Alex R.; Boyle, Coleen A.; Brosco, Jeffrey P.; Grosse, Scott D.

doi:10.1542/peds.2019-0904

Cited by 19 publications

(26 citation statements)

References 12 publications

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“…With a robust long-term follow-up component, GDSP values the necessity of monitoring all potential cases, including those with a VUS [ 46 ]. The growing knowledge from long-term follow-up will further improve our understanding of the clinical significance of these cases, especially when case management algorithms are still undeveloped for asymptomatic patients [ 47 ].…”

Section: Discussionmentioning

confidence: 99%

The First Year Experience of Newborn Screening for Pompe Disease in California

Tang

Feuchtbaum

Sciortino

et al. 2020

IJNS

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The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: (1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, (2) GAA gene sequencing analysis. This study examines results from the first year of screening in a large and diverse screening population. With 453,152 screened newborns, the birth prevalence and GAA enzyme activity associated with various types of Pompe disease classifications are described. The frequency of GAA gene mutations and allele variants are reported. Of 88 screen positives, 18 newborns were resolved as Pompe disease, including 2 classic infantile-onset and 16 suspected late-onset form. The c.-32-13T>G variant was the most common pathogenic mutation reported. African American and Asian/Pacific Islander newborns had higher allele frequencies for both pathogenic and pseudodeficiency variants. After the first year of Pompe disease screening in California, the disease distribution in the population is now better understood. With the ongoing long-term follow-up system currently in place, our understanding of the complex genotype-phenotype relationships will become more evident in the future, and this should help us better understand the clinical significance of identified cases.

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Section: Discussionmentioning

confidence: 99%

The First Year Experience of Newborn Screening for Pompe Disease in California

Tang

Feuchtbaum

Sciortino

et al. 2020

IJNS

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“…A population-based United Kingdom study from 1999 to 2003 identified that 23% of patients diagnosed with an IEM were diagnosed in adulthood, with a separate cohort revealing 40% of IEM diagnoses were made in adulthood [ 5 , 7 ]. NBS has also resulted in the diagnosis of patients that may not present until late adolescence or adulthood as has been seen in late-onset glutaric acidemia type 2, carnitine palmitoyl transferase deficiency type 2, medium-chain acyl-CoA dehydrogenase deficiency, primary carnitine deficiency, X-linked adrenoleukodystrophy, and late onset Pompe Disease [ 8 ]. Clinical practice guidelines and management algorithms are still being developed for these individuals detected “pre-symptomatically”, and the degree to which these individuals follow up and receive care later in life for these adult-onset conditions is largely unknown, and beyond the scope of this paper [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

“…NBS has also resulted in the diagnosis of patients that may not present until late adolescence or adulthood as has been seen in late-onset glutaric acidemia type 2, carnitine palmitoyl transferase deficiency type 2, medium-chain acyl-CoA dehydrogenase deficiency, primary carnitine deficiency, X-linked adrenoleukodystrophy, and late onset Pompe Disease [ 8 ]. Clinical practice guidelines and management algorithms are still being developed for these individuals detected “pre-symptomatically”, and the degree to which these individuals follow up and receive care later in life for these adult-onset conditions is largely unknown, and beyond the scope of this paper [ 8 ]. The diagnosis of IEMs in adults outside of newborn screening is often difficult due to attenuated phenotypes, variable expressivity, missed diagnoses in childhood, considerable overlapping phenotypes with other disorders, and under recognition by providers [ 5 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

Lee

Uhlmann

Hipp

et al. 2020

Molecular Genetics and Metabolism Reports

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Traditionally thought of as a pediatric diagnostic and therapeutic dilemma, the diagnostic rate and spectrum of inborn errors of metabolism (IEM) in the adult population is largely unknown. A retrospective chart review of patients seen by the Michigan Medicine Adult Medical Genetics Clinic for clinical evaluation from 2014 to 2018 was conducted. Patients referred for a primary indication possibly consistent with an IEM were considered. Variables included age at genetic evaluation, symptom onset age, sex, clinical course, organ systems involved, developmental history, family history and prior genetic testing. Of patients evaluated during the study period, 112 were referred for an indication possibly consistent with an IEM and underwent a complete biochemical workup with an IEM diagnostic rate of 9.8% achieved. An additional 9.8% were diagnosed with a non-IEM genetic diagnosis. Management changes were implemented in all IEM diagnoses. Metabolic disorders in the adult population are under-recognized and under-diagnosed. This report demonstrates the need for clinicians to consider these diagnoses in adults and either refer to a genetics clinic or initiate a biochemical workup. As advances in diagnosis, treatment, and life expectancy of patients with IEMs increases, recognizing and diagnosing these conditions can significantly impact care.

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“…The primary goal of NBS is to detect and treat infants with diverse diseases in a timely manner in order to prevent health impairment and infant mortality [3,15]; however, since most of the diseases detected by NBS are genetic, it is not uncommon to find other affected or deceased members in the family, especially older siblings, who carry the same condition [16]. Our results support this, since we found 26 affected older siblings, and 10 (38.5%) of them had severe clinical consequences of the disease, including intellectual disability (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…Newborn screening (NBS) has proven to be an effective public health program to prevent or diminish the morbidity and mortality associated with a range of disorders [1][2][3]. Almost all the diseases detected by NBS are genetic, and most of them have an autosomal recessive mode of inheritance, which means that both parents are asymptomatic carriers and that in each pregnancy, there is a 25% risk of having an affected child [4].…”

Section: Introductionmentioning

confidence: 99%

Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico

Ibarra-González

Fernández-Lainez

Guillén-López

et al. 2021

J. inborn errors metab. screen.

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Introduction: Any abnormal newborn screening (NBS) test should be subjected to appropriate diagnostic tests and should be followed. Once the newborn has been diagnosed and treated, the family should receive comprehensive genetic services. Aim: To present the experience of studying older siblings of patients with inborn errors of metabolism (IEM) identified by NBS in a single-national follow-up reference center. Methods: A retrospective analysis of medical files of the IEM patients detected by NBS was conducted. All those older siblings who tested positive for the same IEM of the patient detected by newborn screening were included. Results: A total of 26 positive siblings from 18 families with seven different IEM were found (phenylketonuria, argininemia, glucose-6-phosphate dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, dihydropteridine reductase deficiency, tyrosinemia type 3, and medium chain acyl-CoA dehydrogenase deficiency). The age range of the affected siblings was 2 to 19 years old, with a mean age of 8.5 years. Ten older siblings (38.5%) had clinical consequences for the disease, including severe intellectual disability. Conclusions: It is necessary to study older siblings, and family history and genetic counseling of all NBS-detected families should be recommended, especially in countries where expanded NBS programs are beginning.

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Ensuring the Life-Span Benefits of Newborn Screening

Cited by 19 publications

References 12 publications

The First Year Experience of Newborn Screening for Pompe Disease in California

The First Year Experience of Newborn Screening for Pompe Disease in California

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico

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