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Related Concept Videos

Genetic Screens02:46

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 Services01:30

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:
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Related Experiment Video

Updated: Jul 6, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Genetic screening and counseling.

Mary E Norton1

  • 1Perinatal Genetic Services, The Permanente Medical Group, San Francisco, California 94115, USA. mary.e.norton@kp.org

Current Opinion in Obstetrics & Gynecology
|April 5, 2008
PubMed
Summary
This summary is machine-generated.

Genetic testing advances offer benefits and challenges in prenatal care. New genetic counseling strategies are needed to ensure patients understand all prenatal genetic testing options.

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Last Updated: Jul 6, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Area of Science:

  • Genetics
  • Prenatal Medicine
  • Medical Technology

Background:

  • Genetic technology has rapidly advanced, impacting prenatal screening and diagnostic testing.
  • Recent changes in recommendations for genetic counseling in prenatal testing are significant.

Purpose of the Study:

  • To review recent advances in genetic technology for prenatal screening and diagnostic testing.
  • To examine changes in recommendations for genetic counseling related to prenatal testing.

Main Methods:

  • Review of current literature and guidelines on prenatal genetic testing.
  • Analysis of new screening and diagnostic strategies for genetic disorders and chromosomal abnormalities.

Main Results:

  • Multiple screening tests for single gene disorders, chromosomal abnormalities, and birth defects are now standard for pregnant women.
  • New approaches include first-trimester screening and sequential testing for chromosomal abnormalities.
  • Shift away from maternal age-based testing impacts genetic counseling by prenatal care providers.

Conclusions:

  • Advances in genetic testing provide significant benefits to patients but pose challenges for healthcare providers.
  • Novel educational and counseling approaches are essential for comprehensive patient review of prenatal genetic testing options.