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Related Concept Videos

In Vitro Fertilization01:24

In Vitro Fertilization

In vitro fertilization (IVF) is a form of assisted reproductive technology where an egg is fertilized with sperm in a controlled laboratory environment before transferring the resulting embryo into the uterus. This process is designed to help individuals and couples experiencing difficulties conceiving.
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Alleles are different forms of the same gene. Humans and other diploid organisms inherit two alleles of every gene, one from each parent.
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Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
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Related Experiment Video

Updated: May 13, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Genetic testing in couples undergoing assisted reproduction technique protocols.

Liborio Stuppia1, Valentina Gatta, Ivana Antonucci

  • 1G. d' Annunzio University, Department of Biomedical Sciences, Via dei Vestini 35 66013, Chieti-Pescara, Italy +39 08713554137 ; +39 08713554135 ; stuppia@unich.it.

Expert Opinion on Medical Diagnostics
|March 19, 2013
PubMed
Summary
This summary is machine-generated.

Couples undergoing assisted reproduction techniques (ART) should consider genetic testing to prevent passing on infertility-related genetic defects. Cytogenetic testing and CFTR gene screening are recommended for all couples, with other tests for specific cases.

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Area of Science:

  • Reproductive Medicine
  • Human Genetics
  • Medical Diagnostics

Background:

  • Assisted reproduction techniques (ART) are increasingly used for conception.
  • ART use carries a risk of transmitting genetic defects causing infertility to offspring.
  • Identifying genetic causes of infertility is crucial for reproductive health.

Purpose of the Study:

  • To comprehensively review common genetic causes of infertility.
  • To determine optimal genetic testing strategies for couples undergoing ART.
  • To minimize the risk of genetic defects in children conceived via ART.

Main Methods:

  • A thorough review of existing scientific literature was conducted.
  • The focus was on identifying prevalent genetic factors linked to infertility.
  • Evidence-based genetic testing recommendations were synthesized.

Main Results:

  • Cytogenetic investigation is a key genetic test for infertile couples.
  • Screening of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene is recommended for all couples.
  • Additional genetic tests are indicated only for specific, high-risk cases.

Conclusions:

  • Cytogenetic analysis and CFTR gene screening are essential for all couples pursuing ART.
  • Targeted genetic testing should be reserved for select individuals based on clinical indications.
  • These genetic evaluations aid in preventing the transmission of hereditary infertility conditions.