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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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Related Experiment Video

Updated: Jun 17, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Preimplantation genetic diagnosis.

Mary Petrou1

  • 1Haemoglobinopathy Genetics Centre, Institute of Women's Health, University College London, University College, London, Hospitals NHS Foundation Trust, London, UK. M.Petrou@ucl.ac.uk

Hemoglobin
|December 17, 2009
PubMed
Summary

Couples at risk for serious inherited blood disorders like thalassemia can explore prevention options. Preimplantation genetic diagnosis (PGD) offers a newer alternative to traditional prenatal diagnosis for family planning.

Area of Science:

  • Reproductive genetics
  • Medical genetics
  • Obstetrics and Gynecology

Background:

  • Genetic counseling is crucial for couples with a family history of serious hemoglobin disorders.
  • Traditional prevention methods include prenatal diagnosis, often followed by pregnancy termination.
  • A need exists for alternative reproductive technologies to prevent affected offspring.

Purpose of the Study:

  • To describe and review preimplantation genetic diagnosis (PGD) as a reproductive option.
  • To inform at-risk couples about advanced genetic screening methods.
  • To highlight PGD's role in preventing inherited blood disorders.

Main Methods:

  • Review of existing literature on preimplantation genetic diagnosis.
  • Description of the PGD process for couples undergoing IVF.

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  • Analysis of PGD's application in preventing homozygous thalassemia and hemoglobinopathies.

    • Main Results:

    • Preimplantation genetic diagnosis (PGD) enables genetic screening of embryos before implantation.
    • PGD allows for the selection of unaffected embryos, preventing the transmission of genetic disorders.
    • This method provides an alternative to prenatal diagnosis and pregnancy termination.

    Conclusions:

    • Preimplantation genetic diagnosis (PGD) is a viable and advanced option for couples at risk of having children with serious hemoglobin disorders.
    • PGD empowers informed reproductive choices, enhancing family planning.
    • Further research and accessibility of PGD can significantly impact the prevention of inherited blood diseases.