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.

scholarly journals Exploring barriers to long-term follow-up in newborn screening programs

2006 ◽  
Vol 8 (9) ◽  
pp. 563-570 ◽  
Author(s):  
Timothy Hoff ◽  
Adrienne Hoyt ◽  
Brad Therrell ◽  
Maria Ayoob
Keyword(s):  
Newborn Screening ◽  
Screening Programs ◽  
Long Term Follow Up

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 Newborn Screening for Sickle Cell Disease: Indian Experience

2018 ◽  
Vol 4 (4) ◽  
pp. 31 ◽  
Author(s):  
Roshan Colah ◽  
Pallavi Mehta ◽  
Malay Mukherjee
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Clinical Manifestations ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Screening Programs

Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.

scholarly journals Diffuse PRAME Expression Is Highly Specific for Thin Melanomas in the Distinction from Severely Dysplastic Nevi but Does Not Distinguish Metastasizing from Non-Metastasizing Thin Melanomas

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3864
Author(s):  
Maximilian Gassenmaier ◽  
Matthias Hahn ◽  
Gisela Metzler ◽  
Jürgen Bauer ◽  
Amir Sadegh Yazdi ◽  
...  
Keyword(s):  
Prognostic Significance ◽  
Diagnostic Interpretation ◽  
Dysplastic Nevi ◽  
Melanocytic Tumors ◽  
Invasive Component ◽  
Uncertain Significance ◽  
Long Term Follow Up

Background: PReferentially expressed Antigen in MElanoma (PRAME) immunohistochemistry is increasingly used as diagnostic adjunct in the evaluation of melanocytic tumors. The expression and prognostic significance of PRAME in melanomas ≤1.0 mm and its diagnostic utility in the distinction from severely dysplastic compound nevi (SDN) have not been studied. Methods: We investigated and compared the immunohistochemical PRAME expression in 70 matched thin metastasizing and non-metastasizing melanomas and 45 nevi from patients with long-term follow-up (35 SDN and 10 unequivocally benign compound nevi). Results: Diffuse PRAME staining in >75% of lesional epidermal and dermal melanocytes identified 58.6% of thin melanomas but did not distinguish metastasizing from non-metastasizing melanomas (p = 0.81). A superficial atypical melanocytic proliferation of uncertain significance, in which the final diagnostic interpretation favored a SDN was the only nevus with diffuse PRAME expression (1/45). Melanomas and SDN with PRAME immunoreactivity exhibited different staining patterns. Most melanomas (67.6%) showed uniform PRAME expression in the in situ and invasive component, whereas most SDN (81.0%) showed a decreasing gradient with depth. Conclusion: Diffuse intraepidermal and dermal PRAME staining is highly specific for melanomas in the distinction from SDN. PRAME expression is not a prognostic biomarker in melanomas ≤1.0 mm.

Long-term follow-up of newborn screening patients

2010 ◽  
Vol 12 ◽  
pp. S267-S268 ◽  
Author(s):  
Susan A. Berry ◽  
Michele A. Lloyd-Puryear ◽  
Michael S. Watson
Keyword(s):  
Newborn Screening ◽  
Long Term Follow Up

scholarly journals Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: Early experience in New England

2010 ◽  
Vol 12 ◽  
pp. S220-S227 ◽  
Author(s):  
Inderneel Sahai ◽  
Roger B. Eaton ◽  
Jaime E. Hale ◽  
Eleanor A. Mulcahy ◽  
Anne Marie Comeau
Keyword(s):  
Newborn Screening ◽  
New England ◽  
Quality Care ◽  
Early Experience ◽  
Long Term Follow Up
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