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Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening

LIFE-BASEL (2023)

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Article Respiratory System

European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

Anne Munck et al.

Summary: The study aimed to assess the current status and performance of newborn bloodspot screening (NBS) for CF in Europe. A survey was conducted among representatives of NBS programs across Europe, and performance was evaluated using a previously developed framework. The results showed that in 2022, there were 22 national and 34 regional NBS programs in Europe. The integration of DNA analysis into the NBS protocol improved the positive predictive value, but also led to increased carrier and CFSPID recognition.

JOURNAL OF CYSTIC FIBROSIS (2023)

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Article Pediatrics

Refinement of newborn screening for cystic fibrosis with next generation sequencing

Michael J. J. Rock et al.

Summary: Using next generation sequencing (NGS) in combination with immunoreactive trypsinogen (IRT) can effectively identify infants at risk for cystic fibrosis (CF) without significantly increasing the rate of detecting carriers. NGS has the potential to enhance equity, sensitivity, and detection of more CF patients with 2 variants during the screening process.

PEDIATRIC PULMONOLOGY (2023)

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Article Respiratory System

Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening

Susanna A. McColley et al.

Summary: This study evaluated whether the implementation of cystic fibrosis newborn screening leads to equitable timeliness of initial evaluation. The study compared the age at the first event (AFE) between infants of different races and ethnicities (Group 1) and white non-Hispanic infants (Group 2). The study found that differences in AFE for infants with CF from historically marginalized groups may exacerbate long-standing health disparities.

JOURNAL OF CYSTIC FIBROSIS (2023)

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Article Pediatrics

Detection of disease-causing CFTR variants in state newborn screening programs

Meghan E. McGarry et al.

Summary: This study aims to explore the differences in detection rates of CFTR variant panels among different races and ethnicities. It was found that minority racial and ethnic groups have lower detection rates, leading to false-negative newborn screening and delayed diagnoses.

PEDIATRIC PULMONOLOGY (2023)

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Review Respiratory System

Managing cystic fibrosis in children aged 6-11yrs: a critical review of elexacaftor/tezacaftor/ivacaftor combination therapy

Kamyron D. Jordan et al.

Summary: Cystic fibrosis is a genetic disorder that causes multi-organ disease due to dysfunctional CFTR protein. Previous treatments focused on symptom relief, but the introduction of highly effective CFTR modulators has improved the health of 90% of CF patients. Studies have shown that the use of elexacaftor-tezacaftor-ivacaftor (ETI) in children aged 6-11 leads to significant clinical improvements with a favorable safety profile.

EXPERT REVIEW OF RESPIRATORY MEDICINE (2023)

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Article Genetics & Heredity

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor

Payal Patel et al.

Summary: Most people with cystic fibrosis (CF) are diagnosed through newborn screening (NBS) by measuring immunoreactive trypsinogen (IRT) values. This study investigated the IRT values of infants born to mothers taking the CFTR modulator, elexacaftor-tezacaftor-ivacaftor (ETI), and found that ETI-exposed infants had lower IRT values compared to infants with CF, CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID), or CF carriers. The authors recommend performing CFTR variant analysis for all ETI-exposed infants in NBS programs.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2023)

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Article Respiratory System

Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward

Aurelie Hatton et al.

Summary: This study demonstrates the usefulness of combining genetic and functional investigations to assess the possibility of evolving to CF or CFTR-RD in babies with inconclusive diagnosis at neonatal screening.

JOURNAL OF CYSTIC FIBROSIS (2022)

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Article Respiratory System

A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus

Sylvia Szentpetery et al.

Summary: This case report describes the treatment of a pregnant woman with F508del homozygous fetus using elexacaftor-tezacaftor-ivacaftor (ETI). The treatment resulted in resolution of meconium ileus (MI) and the delivery of a healthy baby. The mother continued ETI treatment while breastfeeding.

JOURNAL OF CYSTIC FIBROSIS (2022)

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Letter Pediatrics

Overcoming health disparities in access to CFTR modulator therapies: One child's journey with cystic fibrosis

Megan N. Januska et al.

PEDIATRIC PULMONOLOGY (2022)

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Article Pediatrics

Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes

Margaret Rosenfeld et al.

Summary: Newborn screening for cystic fibrosis in the US is associated with improved nutritional status, faster lung function growth, and delayed chronic infection.

JAMA PEDIATRICS (2022)

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Article Genetics & Heredity

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

Martin Kharrazi et al.

Summary: This survey aimed to identify factors associated with missed cystic fibrosis cases due to low immunoreactive trypsinogen (IRT) levels below program cutoffs. Factors such as race, IRT cutoff values, genotypes, and birth and feeding factors were found to be associated with missed CF cases. Lowering IRT cutoff values and addressing hospital and laboratory factors may help reduce missed CF cases.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2022)

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Review Genetics & Heredity

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis

Audrey Tluczek et al.

Summary: Genomic advances have led to the expansion of newborn screening programs, but the psychosocial consequences of these programs are identified as significant risks. This systematic review synthesizes findings from 92 research reports and highlights the impact of parental knowledge, reactions to positive screening results, communication with healthcare providers, carrier testing decisions, and future pregnancies on psychosocial outcomes. The results also emphasize the importance of positive screening results on parent-child relationships, child development, informing children about carrier status, family burden, quality of life, and disparities. The review suggests that improved parent education, effective communication, individualized genetic counseling, and developmental guidance can mitigate these risks.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2022)

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Article Genetics & Heredity

Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States

Marci K. Sontag et al.

Summary: Cystic fibrosis newborn screening (NBS) implementation in the United States has led to variations in diagnosis and intervention timing, with challenges including communication difficulties between healthcare providers and families, and misconceptions about clinical risk in infants from ethnic minority groups. However, there is a strong relationship between NBSP and CF centers, and early diagnosis can be facilitated through increased engagement with healthcare providers.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2022)

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Article Respiratory System

Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward

Aurelie Hatton et al.

Summary: This study demonstrates the usefulness of combining genetic and functional investigations to assess the possibility of evolving to CF or CFTR-RD in babies with inconclusive diagnosis at neonatal screening.

JOURNAL OF CYSTIC FIBROSIS (2022)

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Article Pediatrics

Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype

Meghan E. McGarry et al.

Summary: This study found that minority groups of cystic fibrosis patients are less likely to be eligible for CFTR modulator therapy, potentially leading to increased disease severity and earlier mortality. This will further contribute to health disparities among people with cystic fibrosis.

PEDIATRIC PULMONOLOGY (2021)

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Article Respiratory System

Defining key outcomes to evaluate performance of newborn screening programmes for cystic fibrosis

Anne Munck et al.

JOURNAL OF CYSTIC FIBROSIS (2021)

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Article Respiratory System

Normal pancreatic function and false-negative CF newborn screen in a child born to a mother taking CFTR modulator therapy during pregnancy

Christopher N. Fortner et al.

JOURNAL OF CYSTIC FIBROSIS (2021)

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Review Endocrinology & Metabolism

Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices

Philip M. Farrell et al.

Summary: Heterozygous status for autosomal recessive conditions has been traditionally considered insignificant for health, but recent evidence challenges this notion. The implications of carrier status for policy and ethics in newborn blood screening are complex. Health risks for carriers are influenced by genetic and environmental factors, requiring personalized risk counseling.

MOLECULAR GENETICS AND METABOLISM (2021)

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Article Endocrinology & Metabolism

Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs

Stacey L. Martiniano et al.

Summary: The Colorado Newborn Screening Program screens for cystic fibrosis by measuring immunoreactive trypsinogen from two screens coupled with DNA analysis, and identified 7 out of 8 missed CF cases using different cutoff points. Continuous quality improvement is crucial for increasing sensitivity and reducing missed cases.

MOLECULAR GENETICS AND METABOLISM (2021)

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Article Genetics & Heredity

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

Robert J. Sicko et al.

Summary: This study describes the improvement of CF NBS algorithm in New York State through transition to a new custom NGS platform for more comprehensive CFTR gene analysis. The custom assay streamlined the molecular workflow, increased throughput, and demonstrated feasibility in NBS setting. Technological molecular improvements can reduce FP referrals without loss of sensitivity in NBS algorithms.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Article Genetics & Heredity

Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion

Ambika Shenoy et al.

Summary: Newborn screening for cystic fibrosis has greatly improved diagnosis of the disease, with the goal of early detection and treatment for better health outcomes. Sweat chloride testing is essential for diagnosis, and factors like birth weight and gestational age can significantly impact the success rates of the testing. Measures such as education, reducing the number of technicians, and direct observation during testing can improve success rates while maintaining timely diagnostic testing for cystic fibrosis.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Article Pediatrics

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening

Anne Munck et al.

PEDIATRIC PULMONOLOGY (2020)

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Article Multidisciplinary Sciences

Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions

Aaron C. Miller et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

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Article Respiratory System

Penetrance is a critical parameter for assessing the disease liability of CFTR variants

A. Boussaroque et al.

JOURNAL OF CYSTIC FIBROSIS (2020)

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Review Genetics & Heredity

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

Philip M. Farrell et al.

GENES (2020)

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Article Pediatrics

Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell

Michael H. Farrell et al.

JOURNAL OF PEDIATRICS (2020)

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Article Pediatrics

Quantity not sufficient rates and delays in sweat testing in US infants with cystic fibrosis

Susanna A. McColley et al.

PEDIATRIC PULMONOLOGY (2020)

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Review Genetics & Heredity

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

Anne Bergougnoux et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)

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Review Respiratory System

CFTR modulator theratyping: Current status, gaps and future directions

John Paul Clancy et al.

JOURNAL OF CYSTIC FIBROSIS (2019)

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Article Respiratory System

Risk factors for adverse outcome in infancy in meconium ileus cystic fibrosis infants: A multicentre Italian study

Rita Padoan et al.

JOURNAL OF CYSTIC FIBROSIS (2019)

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Article Genetics & Heredity

Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process

Elinor Langfelder-Schwind et al.

JOURNAL OF GENETIC COUNSELING (2019)

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Article Genetics & Heredity

Psychosocial Distress and Knowledge Deficiencies in Parents of Children in Ireland Who Carry an Altered Cystic Fibrosis Gene

S. J. Quigley et al.

JOURNAL OF GENETIC COUNSELING (2018)

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Article Genetics & Heredity

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

Mireille Claustres et al.

HUMAN MUTATION (2017)

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Article Respiratory System

The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe

Jurg Barben et al.

JOURNAL OF CYSTIC FIBROSIS (2017)

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Article Pediatrics

Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

Michael J. Coffey et al.

JOURNAL OF PEDIATRICS (2017)

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Article Pediatrics

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

Philip M. Farrell et al.

JOURNAL OF PEDIATRICS (2017)

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Article Pediatrics

Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

Clement L. Ren et al.

JOURNAL OF PEDIATRICS (2017)

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Article Pediatrics

Screening for cystic fibrosis in New York State: considerations for algorithm improvements

Denise M. Kay et al.

EUROPEAN JOURNAL OF PEDIATRICS (2016)

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Article Genetics & Heredity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards et al.

GENETICS IN MEDICINE (2015)

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Article Respiratory System

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening

A. Munck et al.

JOURNAL OF CYSTIC FIBROSIS (2015)

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Article Pediatrics

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening

Denise M. Kay et al.

PEDIATRIC PULMONOLOGY (2015)

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Article Pediatrics

Newborn Screening for Cystic Fibrosis in California

Martin Kharrazi et al.

PEDIATRICS (2015)

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Article Pediatrics

Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre

F. Nicole Dijk et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2011)

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Article Pediatrics

Inconclusive Cystic Fibrosis neonatal screening results: long-term psychosocial effects on parents

Sandra Perobelli et al.

ACTA PAEDIATRICA (2009)

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Article Pediatrics

Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond

Drucy Borowitz et al.

JOURNAL OF PEDIATRICS (2009)

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Article Genetics & Heredity

Perinatal transfer of genetic information: developing an algorithm for reporting cystic fibrosis prenatal test results to the newborn screening program

Ellen S. Regalado et al.

GENETICS IN MEDICINE (2008)

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Article Genetics & Heredity

Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens - Implications for newborn screening

Anja Kammesheidt et al.

GENETICS IN MEDICINE (2006)

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Article Pediatrics

Psychosocial risk associated with newborn screening for cystic fibrosis: Parents' experience while awaiting the sweat-test appointment

A Tluczek et al.

PEDIATRICS (2005)

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Article Pediatrics

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: A cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections

AM Comeau et al.

PEDIATRICS (2004)

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Article Pediatrics

Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth

PM Farrell et al.

PEDIATRICS (2001)

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