Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

Preventive Healthcare Services

Preventive Healthcare Services

Preventive healthcare services keep people healthy via frequent check-ups, screening, and counseling. They primarily aid in disease prevention rather than treating an acute or chronic illness. Preventive treatment also keeps individuals productive and energetic, allowing them to work well into their retirement years. Examples of preventive care services include:

Serum Laboratory Studies, Stool Test, Breath Test

Serum Laboratory Studies, Stool Test, Breath Test

Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...

Imaging Studies for Cardiovascular System III: X-Ray

Imaging Studies for Cardiovascular System III: X-Ray

The most common cardiovascular diagnostic test is an X-ray. It produces images of the heart, blood vessels, and adjacent structures.
Definition and Purpose
An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...

Dysrhythmias V: Evaluating Dysrhythmias

Dysrhythmias V: Evaluating Dysrhythmias

Dysrhythmias, also known as arrhythmias, are disturbances in the heart's rhythm that range from benign to life-threatening. A thorough evaluation is crucial for appropriate management and involves a comprehensive medical history, physical examination, and various diagnostic tests.Medical HistorySymptoms: Collect detailed information on palpitations, dizziness, syncope, chest pain, and fatigue. Note their onset, frequency, and triggers.Previous Cardiac Issues: Document any history of heart...

You might also read

Related Articles

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

Sort by

Same author

Personalized whole-genome-based ctDNA dynamics during neoadjuvant therapy across breast cancer subtypes: results from MONITOR-Breast.

Future oncology (London, England)·2026

Same author

Prenatal Cell-Free DNA Screening With Fetal Fraction Amplification at 6-9 Weeks of Gestation.

Obstetrics and gynecology·2026

Same author

Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study.

The application of clinical genetics·2026

Same author

Simultaneous Prenatal cfDNA Screening of Aneuploidy, Recessive Single-Gene Conditions, and Fetomaternal Blood Compatibility.

Clinical chemistry·2026

Same author

Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management.

Prenatal diagnosis·2025

Same author

Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution.

Genetics in medicine : official journal of the American College of Medical Genetics·2024

Search research articles

Related Experiment Video

Updated: Jun 16, 2026

High Content Screening in Neurodegenerative Diseases

High Content Screening in Neurodegenerative Diseases

Published on: January 6, 2012

Expanded carrier screening: What conditions should we screen for?

James D Goldberg¹, Summer Pierson¹, Katherine Johansen Taber¹

¹Myriad Genetics, South San Francisco, California, USA.

Prenatal Diagnosis

|January 9, 2023

Summary

Expanded carrier screening (ECS) identifies more at-risk couples by testing all patients, not just high-risk groups. A recommended core panel of 64 conditions improves comprehensive carrier screening for serious monogenic conditions.

More Related Videos

A Microscopic Phenotypic Assay for the Quantification of Intracellular Mycobacteria Adapted for High-throughput/High-content Screening

A Microscopic Phenotypic Assay for the Quantification of Intracellular Mycobacteria Adapted for High-throughput/High-content Screening

Published on: January 17, 2014

Experimental Quantification of Interactions Between Drug Delivery Systems and Cells In Vitro: A Guide for Preclinical Nanomedicine Evaluation

Experimental Quantification of Interactions Between Drug Delivery Systems and Cells In Vitro: A Guide for Preclinical Nanomedicine Evaluation

Published on: September 28, 2022

Related Experiment Videos

Last Updated: Jun 16, 2026

High Content Screening in Neurodegenerative Diseases

High Content Screening in Neurodegenerative Diseases

Published on: January 6, 2012

A Microscopic Phenotypic Assay for the Quantification of Intracellular Mycobacteria Adapted for High-throughput/High-content Screening

A Microscopic Phenotypic Assay for the Quantification of Intracellular Mycobacteria Adapted for High-throughput/High-content Screening

Published on: January 17, 2014

Experimental Quantification of Interactions Between Drug Delivery Systems and Cells In Vitro: A Guide for Preclinical Nanomedicine Evaluation

Experimental Quantification of Interactions Between Drug Delivery Systems and Cells In Vitro: A Guide for Preclinical Nanomedicine Evaluation

Published on: September 28, 2022

Area of Science:

Genetics
Reproductive Health
Medical Diagnostics

Background:

Carrier screening traditionally targeted specific high-risk populations for monogenic conditions.
Recent evidence supports universal carrier screening for equitable and effective risk identification.
Technological advancements allow for screening numerous conditions simultaneously.

Purpose of the Study:

To review the history and guidelines for carrier screening panel design.
To identify critical criteria and thresholds for selecting conditions for expanded carrier screening (ECS).
To propose a core ECS panel to maximize identification of at-risk couples.

Main Methods:

Review of historical carrier screening practices and current professional guidelines.
Analysis of criteria for designing expanded carrier screening panels.
Development of a recommended core panel based on defined criteria and thresholds.

Main Results:

A core panel of 64 conditions is recommended for expanded carrier screening.
This panel is designed to identify the vast majority of couples at risk for serious monogenic conditions.
Widespread adoption is projected to significantly increase comprehensive carrier screening rates.

Conclusions:

Universal expanded carrier screening is recommended over traditional targeted approaches.
A standardized core panel of 64 conditions offers a practical and effective strategy.
Implementing this core panel will enhance reproductive genetic health outcomes.