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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.
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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.
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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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Updated: Aug 29, 2025

FISH for Pre-implantation Genetic Diagnosis
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Prenatal genetic testing 2: diagnostic tests.

Morgan Jenkins1, Angela R Seasely2, Akila Subramaniam2

  • 1University of Alabama at Birmingham Heersink School of Medicine.

Current Opinion in Pediatrics
|September 9, 2022
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Summary
This summary is machine-generated.

Prenatal genetic diagnostic testing uses advanced methods like next-generation sequencing (NGS) to accurately identify fetal genetic conditions. This review focuses on these diagnostic techniques, highlighting their expanding role in prenatal care.

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Area of Science:

  • Medical Genetics
  • Molecular Biology

Background:

  • Prenatal genetic testing encompasses screening and diagnostic approaches to assess fetal genetic health.
  • Diagnostic testing aims for definitive identification of genetic conditions in fetuses.

Approach:

  • This review concentrates on prenatal genetic diagnostic testing methodologies.
  • It examines traditional methods such as FISH, karyotyping, and CMA.
  • The focus includes emerging techniques like next-generation sequencing (NGS), encompassing targeted gene panels, whole exome sequencing, and whole genome sequencing.

Key Points:

  • Next-generation sequencing (NGS) is transforming prenatal genetic diagnostics with increasing accuracy.
  • Invasive procedures like amniocentesis and chorionic villus sampling are used to obtain fetal tissue for testing.
  • Understanding the evidence and indications for each diagnostic test is crucial for healthcare providers.

Conclusions:

  • Prenatal genetic diagnostic testing is rapidly evolving with new technologies.
  • NGS offers advanced capabilities for identifying fetal genetic disorders.
  • Educating clinicians on these evolving diagnostic tools is essential for optimal patient care.