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  • Conference Report
  • Open Access
17 Citations
4,142 Views
17 Pages

Implementing Risk-Stratified Breast Screening in England: An Agenda Setting Meeting

  • Lorna McWilliams,
  • D. Gareth Evans,
  • Katherine Payne,
  • Fiona Harrison,
  • Anthony Howell,
  • Sacha J. Howell,
  • David P. French and
  • on behalf of the Breast Screening Risk-Stratification Agenda Setting Group

24 September 2022

It is now possible to accurately assess breast cancer risk at routine NHS Breast Screening Programme (NHSBSP) appointments, provide risk feedback and offer risk management strategies to women at higher risk. These strategies include National Institut...

  • Article
  • Open Access
6 Citations
4,311 Views
17 Pages

Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events

  • José Manuel González de Aledo-Castillo,
  • Ana Argudo-Ramírez,
  • David Beneitez-Pastor,
  • Anna Collado-Gimbert,
  • Francisco Almazán Castro,
  • Sílvia Roig-Bosch,
  • Anna Andrés-Masó,
  • Anna Ruiz-Llobet,
  • Georgina Pedrals-Portabella and
  • on behalf of the Sickle Cell Disease Newborn Screening Group of Catalonia
  • + 23 authors

In 2015, Catalonia introduced sickle cell disease (SCD) screening in its newborn screening (NBS) program along with standard-of-care treatments like penicillin, hydroxyurea, and anti-pneumococcal vaccination. Few studies have assessed the clinical im...

  • Guidelines
  • Open Access
36 Citations
2,149 Views
11 Pages

Recommendations on Breast Cancer Screening and Prevention in the Context of Implementing Risk Stratification: Impending Changes to Current Policies

  • J. Gagnon,
  • E. Lévesque,
  • F. Borduas,
  • J. Chiquette,
  • C. Diorio,
  • N. Duchesne,
  • M. Dumais,
  • L. Eloy,
  • W. Foulkes and
  • J. Simard
  • + 11 authors

1 December 2016

In recent years, risk stratification has sparked interest as an innovative approach to disease screening and prevention. The approach effectively personalizes individual risk, opening the way to screening and prevention interventions that are adapted...

  • Article
  • Open Access
2,661 Views
19 Pages

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years’ Experience from a Nationwide Program

  • Margherita Ruoppolo,
  • Cristina Cereda,
  • Teresa Giovanniello,
  • Sabrina Malvagia,
  • Sara Boenzi,
  • Francesca Teofoli,
  • on behalf of the SIMMESN Italian Newborn Screening Group and
  • Alberto Burlina

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation that can have life-threatening consequences if not promptly treated. Early diagnosis by means of newborn screening (NBS) has the potenti...

  • Article
  • Open Access
6 Citations
3,795 Views
14 Pages

Engaging Patients in Smoking Cessation Treatment within the Lung Cancer Screening Setting: Lessons Learned from an NCI SCALE Trial

  • Randi M. Williams,
  • Ellie Eyestone,
  • Laney Smith,
  • Joanna G. Philips,
  • Julia Whealan,
  • Marguerite Webster,
  • Tengfei Li,
  • George Luta,
  • Kathryn L. Taylor and
  • on behalf of the Lung Screening, Tobacco, Health Trial

23 March 2022

Offering smoking cessation treatment at lung cancer screening (LCS) will maximize mortality reduction associated with screening, but predictors of treatment engagement are not well understood. We examined participant characteristics of engagement in...

  • Editorial
  • Open Access
1 Citations
2,045 Views
2 Pages

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2020

  • International Journal of Neonatal Screening Editorial Office

Peer review is the driving force of journal development, and reviewers are gatekeepers who ensure that International Journal of Neonatal Screening maintains its standards for the high quality of its published papers [...]

  • Article
  • Open Access
2 Citations
2,162 Views
12 Pages

Clinical Epidemiology of Microinvasive Cervical Carcinoma in an Italian Population Targeted by a Screening Programme

  • Lauro Bucchi,
  • Silvano Costa,
  • Silvia Mancini,
  • Flavia Baldacchini,
  • Orietta Giuliani,
  • Alessandra Ravaioli,
  • Rosa Vattiato,
  • Federica Zamagni,
  • Paolo Giorgi Rossi and
  • on behalf of the Emilia-Romagna Region Workgroup for Cervical Screening Evaluation
  • + 5 authors

22 April 2022

(1) Background: This population-based study aimed at identifying the factors associated with the likelihood of detection of stage IA cervical carcinoma—versus the detection of stage IB through IV cervical carcinoma—and the patterns of sur...

  • Review
  • Open Access
7 Citations
6,862 Views
14 Pages

Genetic Screening—Emerging Issues

  • Martina C. Cornel,
  • Karuna R. M. van der Meij,
  • Carla G. van El,
  • Tessel Rigter and
  • Lidewij Henneman

3 May 2024

In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconce...

  • Article
  • Open Access
6 Citations
3,386 Views
12 Pages

Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany

  • Kruthika Thangavelu,
  • Kyriakos Martakis,
  • Silke Feldmann,
  • Bernhard Roth,
  • Peter Herkenrath and
  • Ruth Lang-Roth

Regular reporting of quality control is important in newborn hearing screening, ensuring early diagnosis and intervention. This study reports on a population-based newborn hearing screening program in North-Rhine, Germany and a hospital-based screeni...

  • Article
  • Open Access
11 Citations
3,211 Views
11 Pages

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

  • Kee Chan,
  • Zhanzhi Hu,
  • Lynn W. Bush,
  • Heidi Cope,
  • Ingrid A. Holm,
  • Stephen F. Kingsmore,
  • Kevin Wilhelm,
  • Curt Scharfe and
  • Amy Brower

Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS). However, the addition of conditions to the Recommended Uniform Scre...

  • Article
  • Open Access
2 Citations
1,821 Views
15 Pages

26 July 2024

Background/Objectives: Congenital cytomegalovirus (cCMV) is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disabilities, with prompt detection (<21 days of life) required to enable accurate diagnosis and anti-vir...

  • Article
  • Open Access
4 Citations
3,118 Views
11 Pages

Creation of a Métis-Specific Instrument for Cancer Screening: A Scoping Review of Cancer-Screening Programs and Instruments

  • Angeline Letendre,
  • Momtafin Khan,
  • Reagan Bartel,
  • Bonnie Chiang,
  • Ashton James,
  • Brittany Shewchuk,
  • June Kima,
  • Meghan Macphail,
  • Marcus Vaska and
  • Karen A. Kopciuk
  • + 2 authors

9 November 2023

Understanding the barriers to and facilitators of cancer screening programs among Indigenous populations remains limited. In the spirit of mutual respect, this co-led, collaborative project was carried out between the Métis Nation of Alberta a...

  • Article
  • Open Access
7 Citations
2,887 Views
15 Pages

Interventions for residents and medical/financial resources available to screening providers can improve cancer screening rates. Yet the mechanisms by which the interactions of these factors affect the screening rates remain unknown. This study emplo...

  • Article
  • Open Access
16 Citations
3,986 Views
10 Pages

Association of Regular Endoscopic Screening with Interval Gastric Cancer Incidence in the National Cancer Screening Program

  • Choong-Kyun Noh,
  • Eunyoung Lee,
  • Gil Ho Lee,
  • Sun Gyo Lim,
  • Bumhee Park,
  • Sung Jae Shin,
  • Jae Youn Cheong and
  • Kee Myung Lee

31 December 2021

Although regular endoscopic screening may help in early detection of gastric cancer, interval cancer remains a problem in the screening program. This study evaluated the association between regular endoscopic screening and interval cancer detection i...

  • Article
  • Open Access
1 Citations
2,145 Views
13 Pages

4 March 2024

Flip-flow vibrating screens (FFVSs) effectively tackle the challenges posed by the dry deep-screening of wet, fine, low-grade bituminous coal, thereby facilitating advancements in the thermal coal preparation process. The tensile lengths of the scree...

  • Article
  • Open Access
2,232 Views
13 Pages

Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China

  • Liang Ye,
  • Yinhong Zhang,
  • Jizhen Feng,
  • Cidan Huang,
  • Xiaohua Wang,
  • Lianshu Han,
  • Yonglan Huang,
  • Hui Zou,
  • Baosheng Zhu and
  • Jingkun Miao

Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spe...

  • Review
  • Open Access
1 Citations
2,504 Views
13 Pages

Cervical Cancer Screening Cascade: A Framework for Monitoring Uptake and Retention Along the Screening and Treatment Pathway

  • Sara Izadi-Najafabadi,
  • Laurie W. Smith,
  • Anna Gottschlich,
  • Amy Booth,
  • Stuart Peacock and
  • Gina S. Ogilvie

Background: Cervical cancer is a major global health concern, causing approximately 350,000 deaths annually. It is also preventable through effective prevention and early detection. To facilitate elimination, the World Health Organization (WHO) set t...

  • Opinion
  • Open Access
1 Citations
1,831 Views
15 Pages

To Screen or Not to Screen: “False Positive” Cases—Can They Be Treated as Definitely False? Properly Selecting the Screening Age-Range Groups in Scoliosis Screening Programs

  • Theodoros B. Grivas,
  • Elias Vasiliadis,
  • Christina Mazioti,
  • Aristea Mamzeri,
  • Despina Papagianni,
  • Galateia Katzouraki and
  • Nikolaos Sekouris

Background/Objectives: This opinion paper provides a brief overview of the history of school scoliosis screening programs following the introduction. Methods: It outlines the international administrative policies of these programs, their impact on th...

  • Review
  • Open Access
63 Citations
9,237 Views
12 Pages

Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening...

  • Technical Note
  • Open Access
5 Citations
3,985 Views
7 Pages

Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model

  • David Jones,
  • Jianyin Shao,
  • Heidi Wallis,
  • Cody Johansen,
  • Kim Hart,
  • Marzia Pasquali,
  • Ramkiran Gouripeddi and
  • Andreas Rohrwasser

As newborn screening programs transition from paper-based data exchange toward automated, electronic methods, significant data exchange challenges must be overcome. This article outlines a data model that maps newborn screening data elements associat...

  • Article
  • Open Access
5 Citations
3,366 Views
13 Pages

Self-Screening for Cervical Cancer Offered through a Digital Platform in a Region of British Columbia with Lower Screening Rates

  • Laurie W. Smith,
  • Amy Booth,
  • C. Sarai Racey,
  • Brenda Smith,
  • Ashwini Prabhakaran,
  • Smritee Dabee,
  • Quan Hong,
  • Nazia Niazi and
  • Gina S. Ogilvie

13 September 2024

Cervical cancer is highly preventable through vaccination, early detection, and treatment, yet is the fourth most common cancer globally. HPV testing is superior to cytology for the detection of cervical pre-cancer, and jurisdictions around the world...

  • Commentary
  • Open Access
40 Citations
6,789 Views
8 Pages

Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of univer...

  • Article
  • Open Access
11 Citations
3,594 Views
16 Pages

22 April 2023

Moisture content has an important influence on the stratification and screening of materials on the surface of screens, and materials with different external moisture concentrations present different screening characteristics. A vibrating flip-flow s...

  • Review
  • Open Access
5 Citations
2,122 Views
6 Pages

Prostate Cancer Screening in Young Men

  • Maxime De Vrieze,
  • Rouvier Al-Monajjed,
  • Matthias Boschheidgen and
  • Peter Albers

31 July 2024

Background: Prostate cancer (PCa) screening strategies are being developed and evaluated in several countries. However, most of the evidence regarding PCa screening has been generated in study populations aged 50 and older. Aims: This study summarize...

  • Article
  • Open Access
6 Citations
8,475 Views
11 Pages

A national approach to screening for critical congenital heart disease (CCHD) using pulse oximetry was undertaken in the United States. Following the scientific studies that laid the groundwork for the addition of CCHD screening to the U.S. Recommend...

  • Article
  • Open Access
8 Citations
5,422 Views
18 Pages

Combined Virtual and Experimental Screening for CK1 Inhibitors Identifies a Modulator of p53 and Reveals Important Aspects of in Silico Screening Performance

  • Vassilios Myrianthopoulos,
  • Olivier Lozach,
  • Danae Zareifi,
  • Leonidas Alexopoulos,
  • Laurent Meijer,
  • Vassilis G. Gorgoulis and
  • Emmanuel Mikros

6 October 2017

A compound collection of pronounced structural diversity was comprehensively screened for inhibitors of the DNA damage-related kinase CK1. The collection was evaluated in vitro. A potent and selective CK1 inhibitor was discovered and its capacity to...

  • Commentary
  • Open Access
12 Citations
10,836 Views
13 Pages

Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?

  • Lidewij Henneman,
  • Colleen M. McBride,
  • Martina C. Cornel,
  • Debra Duquette and
  • Nadeem Qureshi

26 October 2015

Familial hypercholesterolemia (FH), an autosomal dominant atherosclerotic disease, is a common monogenic subtype of cardiovascular disease. Patients with FH suffer an increased risk of early onset heart disease. Early identification of abnormally ele...

  • Article
  • Open Access
27 Citations
6,382 Views
12 Pages

NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program

  • Nika Maani,
  • Shelley Westergard,
  • Joanna Yang,
  • Anabel M. Scaranelo,
  • Stephanie Telesca,
  • Emily Thain,
  • Nathan F. Schachter,
  • Jeanna M. McCuaig and
  • Raymond H. Kim

22 May 2019

Neurofibromatosis Type I (NF1) is caused by variants in neurofibromin (NF1). NF1 predisposes to a variety of benign and malignant tumor types, including breast cancer. Women with NF1 <50 years of age possess an up to five-fold increased risk of de...

  • Review
  • Open Access
10 Citations
11,671 Views
30 Pages

Cancer Screening: Present Recommendations, the Development of Multi-Cancer Early Development Tests, and the Prospect of Universal Cancer Screening

  • Laurenția Nicoleta Galeș,
  • Mihai-Andrei Păun,
  • Rodica Maricela Anghel and
  • Oana Gabriela Trifănescu

18 March 2024

Cancer continues to pose a considerable challenge to global health. In the search for innovative strategies to combat this complex enemy, the concept of universal cancer screening has emerged as a promising avenue for early detection and prevention....

  • Review
  • Open Access
33 Citations
8,353 Views
10 Pages

Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

  • Maartje Blom,
  • Robbert G.M. Bredius,
  • Gert Weijman,
  • Eugènie H.B.M. Dekkers,
  • Evelien A. Kemper,
  • M. Elske Van den Akker-van Marle,
  • Catharina P.B. Van der Ploeg,
  • Mirjam Van der Burg and
  • Peter C.J.I. Schielen

The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to inc...

  • Review
  • Open Access
51 Citations
15,611 Views
17 Pages

Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early det...

  • Review
  • Open Access
5 Citations
5,193 Views
18 Pages

Role of Imaging in Screening for Hepatocellular Carcinoma

  • Irfan A. Kazi,
  • Vinay Jahagirdar,
  • Bareen W. Kabir,
  • Almaan K. Syed,
  • Asad W. Kabir and
  • Abhilash Perisetti

5 October 2024

Primary liver cancer is among the most common cancers globally. It is the sixth-most common malignancy encountered and the third-most common cause of cancer-related death. Hepatocellular carcinoma (HCC) is the most common primary liver malignancy, ac...

  • Article
  • Open Access
7 Citations
5,532 Views
8 Pages

From Neonatal Hearing Screening to Intervention: Results of the Dutch Program for Neonatal Hearing Screening in Well Babies

  • Noëlle Uilenburg,
  • Catharina Van der Ploeg,
  • Rosanne Van der Zee,
  • Anneke Meuwese-Jongejeugd and
  • Bert Van Zanten

In the Netherlands, Youth Health Care services (YHC) have been carrying out neonatal hearing screening (NHS) in newborns since 2006. The aim of the NHS is to identify children with permanent hearing loss, so that intervention can be started before th...

  • Review
  • Open Access
24 Citations
5,507 Views
7 Pages

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guideline...

  • Article
  • Open Access
28 Citations
5,884 Views
12 Pages

In Australia, all newborns born in New South Wales (NSW) and the Australia Capital Territory (ACT) have been offered screening for rare congenital conditions through the NSW Newborn Screening Programme since 1964. Following the development of the Aus...

  • Article
  • Open Access
11 Citations
3,785 Views
14 Pages

Mapping Variation in Breast Cancer Screening: Where to Intervene?

  • Cindy M. Padilla,
  • François Painblanc,
  • Patricia Soler-Michel and
  • Veronica M. Vieira

Small geographic areas with lower mammography screening participation rates may reflect gaps in screening efforts. Our objective was to use spatial analyses to understand disparities in mammography screening use and to identify factors to increase it...

  • Article
  • Open Access
3 Citations
3,321 Views
18 Pages

16 May 2023

In this study, we present a novel simulation model and case study to explore the long-term dynamics of early detection of disease, also known as routine population screening. We introduce a realistic and portable modeling framework that can be used f...

  • Guidelines
  • Open Access
3 Citations
3,683 Views
10 Pages

ISNS General Guidelines for Neonatal Bloodspot Screening 2025

  • Dianne Webster,
  • Amy Gaviglio,
  • Aysha Habib Khan,
  • Mei Baker,
  • David Cheillan,
  • Layachi Chabraoui,
  • Ghassan Abdoh,
  • Juan Cabello,
  • Roberto Giugliani and
  • James R. Bonham
  • + 4 authors

Part of the vision of the ISNS is ‘to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices.’ Although newborn screening encompasses testing in the newborn perio...

  • Article
  • Open Access
12 Citations
3,437 Views
5 Pages

Implementation of SCID Screening in Denmark

  • Marie Bækvad-Hansen,
  • Dea Adamsen,
  • Jonas Bybjerg-Grauholm and
  • David Michael Hougaard

Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.

  • Article
  • Open Access
11 Citations
5,469 Views
12 Pages

This article presents an overview of legal, methodological, organisational, financial, structural and technical aspects of the initial audiological measurement of newborns (screening), follow-up (diagnosis) and tracking the results (tracking) within...

  • Article
  • Open Access
1 Citations
5,606 Views
15 Pages

Clinical Validation of the Vitro HPV Screening Assay for Its Use in Primary Cervical Cancer Screening

  • Beatriz Bellosillo,
  • Raquel Ibáñez,
  • Esther Roura,
  • Laura Monfil,
  • Laura Asensio-Puig,
  • Isabel Álvarez,
  • Mercè Muset,
  • Yolanda Florencia,
  • Sonia Paytubi and
  • Belen Lloveras
  • + 4 authors

28 March 2024

Many scientific societies have issued guidelines to introduce population-based cervical cancer screening with HPV testing. The Vitro HPV Screening assay is a fully automatic multiplex real-time PCR test targeting the L1 GP5+/GP6+ region of HPV genome...

  • Short Communication
  • Open Access
38 Citations
1,880 Views
8 Pages

Canadian Cancer Screening Disparities: A Recent Historical Perspective

  • J. Kerner,
  • J. Liu,
  • K. Wang,
  • S. Fung,
  • C. Landry,
  • G. Lockwood,
  • L Zitzelsberger and
  • V. Mai

1 April 2015

Across Canada, introduction of the Pap test for cervical cancer screening, followed by mammography for breast cancer screening and, more recently, the fecal occult blood test for colorectal cancer screening, has contributed to a reduction in cancer m...

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