Who Gets Lost: Follow-up of Suspect Results in a Newborn Screening Program

PEDIATRICS ◽  
1998 ◽  
Vol 102 (2) ◽  
pp. e21.2-e21
Author(s):  
Donald W. Spady ◽  
L. Duncan Saunders ◽  
Fiona Bamforth
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program

scholarly journals Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences

2020 ◽  
Vol 6 (2) ◽  
pp. 35 ◽  
Author(s):  
Yvonne Kellar-Guenther ◽  
Sarah McKasson ◽  
Kshea Hale ◽  
Sikha Singh ◽  
Marci K. Sontag ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Survival Curve ◽  
Type I ◽  
Mucopolysaccharidosis Type I ◽  
Newborn Screening Program ◽  
Mps I ◽  
Insight Into

Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.

PUBLIC PRESENTATIONS

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 910-910
Author(s):  
Deborah D. Henry
Keyword(s):  
New York ◽  
New York City ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
York City ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Cell Disease

I am the parent of an 11½-year-old daughter with sickle cell disease. I am aware of the need for a comprehensive newborn screening program for sickle cell disease and other hemoglobinopathies. However, all such programs must be instituted with a follow-up component, and parents should be made aware that such screenings are being done. My daughter was born during the summer of 1975 in New York City. New York City began screening for sickle cell and similar hemoglobinopathies in May 1975, but had no comprehensive follow-up program until 1978. My daughter was not screened nor was I aware of the screening program. I learned of my daughter's condition during a routine well-child clinic visit when she was 6 months of age. I am afraid to think of her outcome had I not been taking her for preventive health care, because before the age of 1 year she experienced one of the most life-threatening crises of a child with sickle cell disease—splenic sequestration. I am pleased to announce that in New York City today, parents are notified in a timely manner of their infant's newborn screening results with information regarding follow-up and counseling services. Two of my immediate family members gave birth to infants with sickle cell trait. They were informed of their infants' results within 2 weeks after their babies' births, and were given concrete information and recommendations for follow-up genetic services. I know a comprehensive newborn screening program will prevent mortality in infants found to have sickle cell disease and related hemoglobinopathies.

Neonatal Screening for Dependents of Active-Duty Military Personnel

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 130-131
Author(s):  
EDWARD R. B. MCCABE
Keyword(s):  
Newborn Screening ◽  
Military Personnel ◽  
Neonatal Screening ◽  
Screening Program ◽  
Active Duty ◽  
Newborn Screening Program ◽  
Active Duty Military ◽  
The Us ◽  
Made In

In Reply.— COL Pettett is to be applauded for bringing attention to the issue of newborn screening among dependents of military personnel. He provides the opportunity to reemphasize several points made in the statement from the Committee on Genetics1 including: the need for a standardized policy or program for these dependents, particularly those born outside the US; the value of dedicated regionalized labonatory facilities in a newborn screening program; and the components that require consideration in any such policy or program, which include not only the laboratory, but also educational, administrative, follow-up, management, and evaluative components.

Unexpected Finding from a PKU Newborn Screening Program

PEDIATRICS ◽  
1964 ◽  
Vol 34 (6) ◽  
pp. 889-890 ◽  
Author(s):  
R. WENDELL COFFELT
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Unexpected Finding ◽  
Maternal Phenylketonuria ◽  
Newborn Screening Program ◽  
The Third ◽  
Doctor's Office

We wish to draw attention to the unexpected finding of a maternal phenylketonuria case from our Guthrie PKU newborn screening program here in Burbank, California. The first specimen taken from the infant involved was on the third day of life and registered 6 mg/100 ml phenylalanine content in the blood. This occurred very early in our program and at that time we did not feel an immediate follow-up should be done unless the result appeared above 6 mg/100ml. The next specimen was taken when the baby was 6 weeks old routinely in the doctor's office.

Follow-up of Children With Trait in an Urban Setting

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 878-878
Author(s):  
Lindsey K. Grossman ◽  
Neil A. Holtzman ◽  
Evan Charney ◽  
Allen D. Schwartz
Keyword(s):  
Genetic Counseling ◽  
Newborn Screening ◽  
Screening Program ◽  
Urban Setting ◽  
Newborn Screening Program ◽  
Screening Programs ◽  
Before And After

In a newborn screening program for abnormal hemoglobins, 91 infants were found to have hemoglobin AS or AC. Their parents were informed and offered genetic counseling, but only 350 accepted. We tested parents' knowledge of sickle disorders before and after the session. The tests were repeated when their babies were 4 to 8 months of age; parents of babies with normal hemoglobin and those with sickle trait who had not been counseled were also tested at this time. Parents who received counseling showed an increase in knowledge and retained it until the second interview, although 27% did not recall the original session. Noncounseled parents of a child with trait also had knowledge of the condition; in general, families of a child with trait knew more about the condition than families of a child without trait. Newborn hemoglobin screening programs prove helpful for certain families but not necessarily for all who may be eligible. (Previously published in Am J Dis Child 1985;139:241-244.)

scholarly journals Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil

2014 ◽  
Vol 58 (1) ◽  
pp. 62-67 ◽  
Author(s):  
Antônio R. O. Ramalho ◽  
Roberto J. R. Ramalho ◽  
Carla R. P. Oliveira ◽  
Marta M. G. S. Magalhães ◽  
Elenilde G. Santos ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
Mental Retardation ◽  
Newborn Screening ◽  
Metabolic Control ◽  
Filter Paper ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Blood Concentrations ◽  
Cutoff Value

Objectives: Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE).Materials and methods: We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; the children’s age at several phases of the program, the incidence of the disease from January 2007 to June 2008; and metabolic control of the patients.Results: The coverage of NBS/SE was 78.93%. The children’s age was 10 ± 7 days at PKUneo collection. Twelve children were recalled based on the PKUneo cutoff value at 28 ± 13 days. From these, the concentrations of phenylalanine collected by venipuncture were normal in five children. The incidence of hyperphenylalaninemia was 1/43,449, and of PKU was 1/8,690 (5 cases). One suspected subject died. Another death occurred in the cohort, in a confirmed PKU case. PKU treatment began within 51 ± 12 days of life. In the four patients under dietary phenylalanine restriction, metabolic control was often difficult.Conclusions: PKU NBS/SE has satisfactory coverage and adequate cutoff for recalling patients and diagnosis, but the onset of treatment is delayed, and follow-up metabolic control is frequently inadequate.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

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