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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.
The IVF process begins with ovarian stimulation, during which reproductive endocrinologists prescribe hormonal medications to stimulate the ovaries to produce multiple eggs instead of the single...

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Preimplantation genetic testing.

François Audibert1, R Douglas Wilson, Victoria Allen

  • 1The Society of Obstetricians and Gynaecologists of Canada (SOGC), Montreal, QC.

Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC
|September 24, 2009
PubMed
Summary
This summary is machine-generated.

Preimplantation genetic diagnosis (PGD) aids couples at risk of genetic disorders, while preimplantation genetic screening (PGS) effectiveness for improving IVF outcomes is debated. PGD requires genetic counseling, and prenatal testing is recommended to confirm PGD results.

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Area of Science:

  • Reproductive Medicine
  • Human Genetics
  • Assisted Reproductive Technologies

Background:

  • Preimplantation genetic testing (PGT) encompasses preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS).
  • The Society of Obstetricians and Gynaecologists of Canada developed this consensus update.
  • Recommendations align with the Canadian Task Force on Preventive Health Care guidelines.

Purpose of the Study:

  • To review the techniques and indications for PGD and PGS.
  • To provide an introductory discussion on the genetic aspects of preimplantation reproductive techniques.
  • To educate readers on new genetic concepts, directions, and technology in PGT.

Main Methods:

  • Literature search of Cochrane Library and Medline (1990-2008) for PGT, PGD, PGS, and in vitro fertilization (IVF).
  • Inclusion of systematic reviews, RCTs, controlled clinical trials, and observational studies.
  • Identification of grey literature from health technology assessment agencies, guideline collections, and registries.

Main Results:

  • PGD serves as an alternative to prenatal diagnosis for couples at risk of transmitting genetic disorders.
  • The benefits of PGS for improving IVF effectiveness in specific patient groups (advanced maternal age, recurrent miscarriage/implantation failure) remain debated.
  • Major harms and costs associated with PGT are primarily those of assisted reproductive technologies.

Conclusions:

  • PGD can reduce the risk of conceiving a child with a known parental genetic abnormality.
  • Genetic counseling is essential before PGD to ensure patient understanding of risks, benefits, and limitations.
  • Invasive prenatal testing is encouraged to confirm PGD results due to potential technical limitations and false negatives.
  • Thorough education on limitations and risks is crucial before PGS, as current evidence does not support its use for improving live-birth rates in specific patient populations.