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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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
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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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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...
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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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FISH for Pre-implantation Genetic Diagnosis
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Recent advances in prenatal genetic screening and testing.

Ignatia B Van den Veyver1

  • 1Department of Obstetrics and Gynecology and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.

F1000Research
|November 18, 2016
PubMed
Summary

New prenatal screening technologies offer expanded options for detecting fetal genetic abnormalities. Genetic counseling is crucial for navigating these complex choices and their implications.

Keywords:
genetic abnormalitiespregnancyprenatal screeningrisk

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Area of Science:

  • Reproductive genetics
  • Fetal medicine
  • Genomic technologies

Background:

  • Prenatal screening and testing for fetal genetic abnormalities have been revolutionized by technological advancements.
  • Expanded carrier screening and non-invasive cell-free DNA (cfDNA) screening for aneuploidy and single-gene disorders are now integrated into prenatal care.
  • Emerging technologies enable diagnosis of a wider range of genetic conditions.

Approach:

  • Utilizing expanded carrier screening panels for comprehensive genetic carrier assessment.
  • Implementing non-invasive cell-free fetal DNA (cfDNA) screening for fetal aneuploidy and single-gene disorders.
  • Employing advanced diagnostic techniques like chromosomal microarray analysis and whole-exome sequencing on samples from amniocentesis or chorionic villus sampling.

Key Points:

  • Non-invasive prenatal screening (NIPS) using cfDNA now detects subchromosomal abnormalities.
  • Invasive diagnostic methods (amniocentesis, CVS) with chromosomal microarray and whole-exome sequencing identify genetic conditions not detectable by NIPS.
  • Each screening and testing modality presents distinct benefits and limitations.

Conclusions:

  • The evolving landscape of prenatal genetic testing necessitates sophisticated genetic counseling.
  • Providers must guide patients through complex decisions regarding various screening and diagnostic options.
  • Informed patient choices are paramount in the era of advanced fetal genetic analysis.