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Preimplantation genetic diagnosis (PGD)

Preimplantation genetic diagnosis (PGD)
Preimplantation genetic diagnosis (PGD)
Preimplantation genetic diagnosis (PGD) is the analysis of hereditary material of embryos, and sometimes oocytes, which is carried out before the embryo is transferred to the uterine cavity in order to detect chromosomal abnormalities and hereditary genetic diseases.

Why should I do PGD?

The main advantages of PGD are:

  • The ability to choose embryos without chromosomal abnormalities, inherited gene mutations;
  • Up to 20% higher probability of successful implantation of the embryo followed by the birth of a child;
  • 2 times higher probability of successful gestation;
  • The number of multiple pregnancies is much less common.

Who needs to do PGD?

The decision on the need for PGD is made by the parents after consultation with the obstetrician-gynecologist and geneticist.

However, the following indications are identified when PGD is extremely important:

  • The presence of any chromosomal diseases or inherited gene mutations in parents’ and close relatives’ genes (changes in the number and structure of chromosomes, cystic fibrosis, sickle cell anemia, hemophilia A, BRCA gene carriage, etc.);
  • Woman’s age over 35 years and man’s age over 40: the risk of chromosomal disorders is significantly increased;
  • Two or more spontaneous abortions with a normal parents’ karyotype;
  • Three or more ineffective IVF protocols when a woman is under 35, using high quality embryos and with a good endometrial condition or 2 failed IVF attempts when a woman is over 35;
  • Severe sperm malformations (oligozoospermia, azoospermia, etc., according to the conclusion of a urologist);

PGD can also be performed to increase the likelihood of having a healthy baby.

How is PGD performed?

  • A standard program of IVF or IVF + ICSI is carried out.
  • On the fifth day of embryo development, the embryologist collects 4-5 cells in that part of which fetal membranes will subsequently form;
  • The resulting material is sent for analysis to the genetic laboratory;
  • All embryos of excellent and good quality are cryopreserved;
  • After the results of a genetic study, embryos without chromosomal genetic disorders are selected and the woman prepares to transfer them in a natural or stimulated cycle.

Is embryo damaged during PGD?

In less than one percent of biopsies, the risk of accidental damage to the embryo is possible.

Is it necessary to carry out standard prenatal diagnosis after PGD?

Yes. These are various examination methods that complement each other perfectly.

How effective is PGD?

The probability of erroneous results does not exceed 4-5%, however, even such an accurate study as PGD does not exclude 100% the likelihood of malformations and the birth of an absolutely healthy baby, although the proportion of erroneous results is very small.

Throughout the world, the use of preimplantation genetic diagnostics in IVF / ICSI cycles, especially in late reproductive years, is proving its effectiveness and has been successfully used in the infertility treatment.


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