PGD ​​with IVF – what is it?

The basis of genetic health is karyotype. All disorders occurring in pairs of chromosomes
formed after the fusion of female and male gametes lead to abnormalities and anomalies in
the development of the fetus.

In order to avoid this, even before insertion, the genetic material of the embryo cells is
diagnosed. PGD ​​in IVF is a method that allows you to test an embryo for genetic
disorders before transfer to the uterine cavity. The abbreviation stands for preimplantation
genetic diagnosis.

Indications for preimplantation diagnosis

Preimplantation genetic diagnosis is performed for patients on certain indications.

Here they are:

Age is more than 38-42 years.
Multiple unsuccessful attempts of IVF of unclear etiology.
Habitual miscarriage, especially when the chromosomal abnormality in the fetus
(miscarriage) is confirmed.
Heavy and complex forms of male infertility. In this category of patients, testing the embryo
for genetic errors significantly increases the likelihood of a successful pregnancy.

Advantages of IVF with PGD

It is important that PGD diagnosis can be performed prior to implantation. If the violations
are found on time (before transfer), then there will be no question of termination of
pregnancy after IVF. Future dad and mom should understand this, especially if they are
carriers of genetic abnormalities.

More often than others there are such genetic; mistakes; and diseases transmitted by

Bearing a balanced translocation. Such irregular “rearrangements” in chromosomes occur at a frequency of 1: 300 patients.
Cystic fibrosis.
Verdnig-Hoffman’s disease.
Deaf mute.
Huntington’s chorea.
Duchenne muscular dystrophy.

Do I need to do PGD?

In couples who have the above disorders or carriers, there are two ways: to become
pregnant and to detect pathology already during pregnancy or to check in advance – to do
the diagnosis and transfer to the uterus a proven, healthy embryo.
Possibilities of preimplantation genetic diagnosis are quite wide. The list of genetic
diseases that can be determined at the stage before the transfer of the embryo into the
body of the mother, has 300-400 points. What you need to pay attention specifically to you
prompt in the clinic.

Method of conducting

Conducting preimplantation diagnostics requires special equipment. Depending on the
goal, the doctor can study chromosomes under a fluorescent microscope (to study the
entire set of chromosomes) or conduct PCR (to identify mutations in the gene). But first
you need to get one cell from the embryo.

In the laboratory, a fertilized egg on the third day of incubation is placed in a sterile dish
with a special medium for blastomere biopsy. Under the microscope on the third day, 8
blastomeres can be observed. The embryologist must take one blastomer. This is a complex
and very precise procedure. It is necessary to remove the cage so that the embryo itself
does not suffer. Then the resulting material is transported to the laboratory for the study of
genetics and sex of the embryo.

All genetic material is in the nucleus. To facilitate the yield of the nucleus, the blastomer is
placed in a drop of hypotonic solution, the cell is destroyed. Then it is examined under a
fluorescent microscope. Chromosomes are defined as a signal of a certain color.
The removal of the blastomer (cell) does not affect the further growth and development of
the embryo.

Execution of IVF with preimplantation diagnostics allows:

• avoid the birth of an infant with genetic abnormalities, including those linked to the sex;
• increase the effectiveness of IVF itself by transferring only embryos with a full karyotype;
• prevent the emergence of children with a predisposition to oncological processes and
other serious diseases;
• reduce the risk of spontaneous abortion.

If you decide on IVF and the doctor for any reasons recommends conducting
preimplantation diagnostics, do not even doubt in its expediency. At stake is the health of
the child, and hence his happiness in life.