Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Cystic fibrosis.

L P Shulman1, S Elias

  • 1Departments of Obstetrics and Gynecology and Molecular Genetics, University of Illinois at Chicago, Chicago, Illinois, USA. lps5@cornell.edu

Clinics in Perinatology
|August 14, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Causal Inference in Oncology: Why, What, How and When.

Clinical oncology (Royal College of Radiologists (Great Britain))·2024
Same author

Circulating tumor DNA guided adjuvant chemotherapy in stage II colon cancer (MEDOCC-CrEATE): study protocol for a trial within a cohort study.

BMC cancer·2020
Same author

ESC expert statement on the effects on mood of the natural cycle and progestin-only contraceptives.

The European journal of contraception & reproductive health care : the official journal of the European Society of Contraception·2017
Same author

Enteroviral infection in patients treated with rituximab for non-Hodgkin lymphoma: a case series and review of the literature.

Hematological oncology·2016
Same author

Contraception for the perimenopausal woman.

Climacteric : the journal of the International Menopause Society·2016
Same author

The Medical Bookshelf.

Postgraduate medicine·2016
Same journal

Breathing Physiology into the Art of Neonatal Respiratory Care.

Clinics in perinatology·2026
Same journal

The Science and Art of Neonatal Respiratory Care.

Clinics in perinatology·2026
Same journal

Ex Utero Artificial Womb Support: Promising Future for Extremely Preterm Infants.

Clinics in perinatology·2026
Same journal

Advances in the Use of Cell-Based Therapies for Prevention of Bronchopulmonary Dysplasia.

Clinics in perinatology·2026
Same journal

Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant.

Clinics in perinatology·2026
Same journal

Modern Surfactant Delivery Methods with a Focus on Implementation of Surfactant Administration Through Laryngeal and Supraglottic Airways.

Clinics in perinatology·2026
See all related articles

Cystic Fibrosis (CF) carrier screening is expanding, but current detection rates and diagnostic limitations may cause anxiety. Future advances and improved education are crucial for effective CF genetic screening and patient care.

Area of Science:

  • Medical Genetics
  • Genetic Screening
  • Public Health

Background:

  • Cystic Fibrosis (CF) carrier screening is anticipated for routine use, despite mutation detection rates below the recommended 95%.
  • Current prenatal diagnostic methods may yield uncertain results for some couples, causing significant distress.

Purpose of the Study:

  • To address concerns regarding the potential for CF carrier screening to cause anxiety rather than alleviate it.
  • To outline recommendations for the systematic implementation of CF carrier screening.

Main Methods:

  • Review of National Institute of Health-sponsored workshop recommendations.
  • Discussion of advancements in DNA and protein analytic capabilities.
  • Consideration of genotype-phenotype correlation research.

Related Experiment Videos

Main Results:

  • Carrier screening may be offered to high-risk populations, including Ashkenazi Jews, individuals of Northern/Central European descent, and those with a family history of CF.
  • Development of practice guidelines, educational materials, informed-consent protocols, and laboratory standards is necessary before widespread implementation.
  • Technological advancements may improve CF screening accuracy and reduce equivocal outcomes.

Conclusions:

  • Continued improvements in CF therapies and understanding of genotype-phenotype correlations are expected to enhance patient outcomes.
  • Educational and counseling aspects remain critical for ensuring appropriate clinical care for all individuals undergoing CF screening.