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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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[Preimplantation genetic testing].

Kristina Løssl1, Jane Gasseholm Bentzen, Morten Rønn Petersen

  • 1Kristine.loessl@regionh.dk.

Ugeskrift for Laeger
|December 2, 2021
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Summary
This summary is machine-generated.

Preimplantation genetic testing (PGT) offers a way to screen embryos for genetic disorders before pregnancy. This review covers PGT for monogenetic diseases, chromosomal rearrangements, and aneuploidy screening within IVF.

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Area of Science:

  • Reproductive Medicine
  • Medical Genetics
  • Embryology

Background:

  • Preimplantation genetic testing (PGT) is an established alternative to prenatal diagnosis for monogenetic diseases and chromosomal rearrangements.
  • PGT significantly reduces the risk of pregnancies with affected fetuses.
  • PGT for aneuploidy (PGT-A) is widely used with IVF, but its benefits remain debated.

Purpose of the Study:

  • To review the evolution and current status of preimplantation genetic testing.
  • To discuss the integration of PGT with assisted reproductive technologies.
  • To highlight the applications of PGT in reducing genetic disease transmission and its role in IVF.

Main Methods:

  • Review of existing literature on preimplantation genetic testing.
  • Discussion of the components of PGT: genetic counseling, testing, and assisted reproductive technology.
  • Explanation of procedures including ovarian stimulation, egg retrieval, and embryo biopsy.

Main Results:

  • PGT for monogenetic diseases (PGT-M) and structural rearrangements (PGT-SR) are effective in preventing affected pregnancies.
  • PGT-A is widely implemented but its clinical utility is under ongoing discussion.
  • The PGT process integrates genetic expertise with advanced reproductive techniques.

Conclusions:

  • PGT has become a crucial tool in reproductive medicine for genetic screening.
  • The application of PGT, particularly PGT-A, requires careful consideration of its debated benefits.
  • PGT represents a significant advancement in assisted reproductive technology and genetic diagnostics.