Preimplantation genetic diagnosis and screening

Area of Science:

• Reproductive Medicine
• Genetics
• Embryology

Background:

• Preimplantation genetic diagnosis (PGD) is a technique used to detect genetic abnormalities in embryos.
• It is performed following in vitro fertilization (IVF) cycles.
• PGD offers potential benefits for specific patient groups, including those with infertility, recurrent miscarriages, advanced maternal age, severe male factor infertility, or hereditary disease risks.

Purpose of the Study:

• To evaluate the role and application of PGD in improving pregnancy outcomes.
• To identify patient populations who may benefit from PGD.
• To outline the methodologies employed in PGD.

Main Methods:

• PGD involves testing single cells from preimplantation embryos.
• Techniques include multiprobe, multicolor fluorescence in situ hybridization (FISH) for chromosomal abnormalities.
• Polymerase chain reaction (PCR), linkage analysis, and DNA sequencing are used for specific DNA mutations.

Main Results:

• PGD enables the selection of embryos free from genetic abnormalities.
• This selection process has the potential to increase implantation rates.
• It may also lead to a decrease in miscarriage rates.

Conclusions:

• PGD is a valuable tool for identifying genetically normal embryos prior to transfer.
• By transferring only unaffected embryos, PGD can enhance the likelihood of a successful pregnancy and the birth of a healthy infant.
• The technology serves diverse patient groups facing reproductive challenges and genetic risks.