Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Preimplantation genetic diagnosis.

Santiago Munné1, Dagan Wells

  • 1Institute for Reproductive Medicine and Science, Saint Barnabas Medical Center, West Orange, New Jersey, USA. santi.munne@membryos.net

Current Opinion in Obstetrics & Gynecology
|May 29, 2002
PubMed
Summary

Preimplantation genetic diagnosis (PGD) offers an alternative to prenatal testing by analyzing embryos before pregnancy. PGD improves outcomes for chromosomal rearrangements, advanced maternal age, and single-gene disorders.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Investigating DNA contamination affecting embryo biopsy specimens taken for PGT-A: Incidence and impact on the accuracy of chromosomal analysis.

Reproductive biomedicine online·2026
Same author

The International Glossary on Infertility and Fertility Care, 2025†.

Fertility and sterility·2026
Same author

The International Glossary on Infertility and Fertility Care, 2025†.

Human reproduction (Oxford, England)·2026
Same author

Report of the PGDIS Task Group on the status of PGT-A.

Reproductive biomedicine online·2026
Same author

Revisiting the promise and pitfalls of mitochondrial replacement therapies.

Human reproduction (Oxford, England)·2026
Same author

Euploidy rates within blastocysts obtained from differently sized cohorts and age groups approximate a binomial distribution.

F&S reports·2025

Area of Science:

  • Reproductive Medicine
  • Genetics
  • Embryology

Background:

  • Preimplantation genetic diagnosis (PGD) serves as an alternative to prenatal diagnosis, involving genetic testing of embryos prior to pregnancy establishment.
  • It is applied to various patient groups, including those with chromosomal rearrangements, advanced maternal age, and risks of transmitting single-gene disorders.

Purpose of the Study:

  • To provide an overview of the applications and advancements in preimplantation genetic diagnosis.
  • To highlight the expanding scope of PGD for chromosomal abnormalities, fertility treatment, and monogenic disorders.

Main Methods:

  • Genetic testing of human embryos prior to implantation.
  • Techniques include multiplex polymerase chain reaction for diagnosing various genetic conditions.

Main Results:

  • PGD has demonstrated success in reducing spontaneous abortions and preventing chromosomal imbalances in offspring.
  • It also contributes to increased implantation rates and prevention of trisomic offspring in women of advanced maternal age.
  • The range of diagnosable monogenic disorders and new indications like HLA typing and late-onset diseases are expanding.

Conclusions:

  • Preimplantation genetic diagnosis is a valuable tool for reproductive medicine, offering significant benefits for diverse patient populations.
  • Advancements in PGD protocols enhance reliability and expand its clinical applications for genetic screening and disease prevention.

Related Experiment Videos