Preimplantation genetic diagnosis (PGD) makes it possible to conduct genetic analyzes of the embryo before it is transferred into the uterus

Preimplantation diagnosis - is the study of genes of the embryos produced through IVF. The survey is conducted in an embryology laboratory, it’s aims are - to identify healthy embryos with no anomalies before their transfer into the woman's body. This selection allows to transfer only the healthy embryos, which increases the chances of getting pregnant, which ends up in the birth of a healthy baby. Moreover, the PGD analysis helps to minimize the risk of having a sick child, even for parents with genetic disorders.

The technology of pre-implantation genetic testing

  1. Blastomere biopsy

a single cell (blastomere) is taken from the embryo on the third day after fertilization with the help of microsurgical instruments.

  1. Trophectoderm biopsy cells

Trophectoderm biopsy cells

Three to five cells are taken from the trophectoderm of the embryo, which is the outer layer of the blastocyst. This manipulation is carried out on the 5th-6th day of the embryonic development. This version of the test detects abnormalities of the embryo’s karyotype more reliably.

  1. Oocyte’s polar cell biopsy

Oocyte’s polar cell biopsy

This is the most favorable option of diagnostic, but it is possible for conduction only when the genetic abnormalities are in the female line. Polar cell - is the part of the egg, which is not directly involved in the fertilization, however, it’s the genetic material is identical to the nucleus of the egg.

Safety of PGS

  • The diagnosis is made at a very early stage, when all the cells of the embryo are still pluripotent, which means, that each of them can be formed into a full body.
  • None of the stages of preimplantation genetic diagnosis bring harm to the embryo, fetus and unborn child.

When a sample is received for diagnosis, it is prepared in a special way. The cells are placed in a buffer solution or on a glass slide, which is fixed in a special way.

Which diseases can be detected

Diagnosis of monogenic mutations

The most common monogenic diseases - are amyotrophy, cystic fibrosis, phenylketonuria, hemophilia and mucopolysaccharidoses. If the parents are aware of the presence of such diseases in the family, then that is an indication to conduct IVF with preimplantation genetic diagnosis.

Diagnosis of chromosomal translocations

Chromosomal translocation - it is a change in the chromosomes, when the two parts of the chromosomes are rearranged, as though changing places with each other. If the exchange is balanced (i.e. if the rebuilt parts of the chromosomes are equal in size), the patients that have such an anomaly don’t look any different than the others. However, they have a high probability of miscarriage and the manifestations of a genetic disease in the offspring. The degree of changes of the children in the future can vary depending on the size of the rebuilt part of the chromosome. To learn about the presence of this disease is possible only through a special examination. It is assigned if there were multiple failed IVF attempts, multiple miscarriages or a history of birth of a genetically sick child.

The accuracy of PGD

Preimplantation genetic diagnosis has a very small probability of error - from 3 to 5%. That's why even after a genetic diagnosis at the stage of IVF, the pregnant woman is in any case assigned to conduct combined prenatal screening in the standard stages of pregnancy. If the results obtained by screening show a high risk of having chromosomal abnormalities in the fetus, the patient is assigned a medically necessary invasive prenatal diagnosis (chorionic villus sampling or amniocentesis).

How much does PGD cost?

And if this amount at the beginning seems to be too big, after analyzing the nursing costs for the lifelong care of a sick child, it will become clear that it is quite an acceptable and a very profitable investment.

A child with a genetically caused disease will need lifelong constant care, treatment, accessories and equipment for the organization of his daily life, all of which is hundreds of times greater than the cost of PGD. The cost of pre-implantation genetic diagnosis can be better clarified by your doctor, or looking at the "AltraVita" reproduction clinic site in the section "Prices". This way, we can confidently say that the price of preimplantation genetic diagnosis - is the future health of the child.

Preimplantation diagnosis of embryos cost is not such a huge that it had to be from the refuse. Health your baby has a much greater value. IVF with PGD - is the ability to timely detect a mutation in the case of its presence, but also to gain confidence that your future child is healthy, if the result is negative.

Take a chance, which gives you the IVF - PGD! Its price is not so high. Remember that you have an advantage over women who become pregnant in a natural way, because they cannot carry out preimplantation diagnosis. You also have the opportunity to test the embryo within the ECO. With PGD will cost a little more but it's worth it!

Indications for PGD

Pre-implantation diagnosis of the embryos is is not always carried out only on the indications during IVF.A couple can request for PGD on their own initiative if they want to know exactly if their baby will be born healthy. PGD during IVF saves future parents from unnecessary emotions.

There are also indications for PGD. In some cases of IVF, the use of pre-implantation diagnosis is mandatory. The need for this procedure is determined by the doctor that conducts IVF.

PGD is carried out if there are the following indications:

  • The woman’s age is over 34 years, and man’s - 39 years;
  • The presence in the history of more than two unsuccessful IVF attempts; s;
  • A history of more than two miscarriages;
  • The parents (one of them) have a genetic translocations, chromosomal rearrangements, inversions and other genetic abnormalities.
  • More than 3 inefficient transfers of good quality embryos by women under the age of 35 years.

To pass the inspection, one should consult a geneticist, who is the specialist that appoints PGD. The price depends on the method chosen. Despite the cost, the usefulness of this diagnosis is difficult to challenge. Its validity is 97%. Feedback from clients and patients also testifies to the accuracy of PGD, and they can easily be found on many forums.

Preimplantation genetic diagnosis is for couples who are carriers a chromosome rearrangement or of monogenic diseases. Examples of monogenic diseases are cystic fibrosis, Tay - Sachs disease, sickle cell anemia, hemophilia A, DMD and many others.

In addition, preimplantation genetic diagnosis is performed for couples with an increased risk of congenital anomalies in children, which is not associated with carriage of diagnosed mutations. These cases include couples where the mother's age exceeds 35 years; and the father's age above 39 years old; if the father has heavy violations of spermatogenesis; married couples with recurrent pregnancy loss; in couples with repeated unsuccessful attempts at IVF.

In the case of an indefinitely high-risk of a child being born with congenital anomalies, then preimplantation genetic diagnosis is carried out for the nine chromosomes, which are associated with the most common congenital disease. They are: chromosome 13 (Patau syndrome), chromosome 15 (Prader-Willi syndrome), chromosome 16, chromosome 17, chromosome 18 (Edwards Syndrome), chromosome 21 (Down syndrome), chromosome 22 (“cat pupillary” Syndrome) and the genital chromosome X and Y (different numerical abnormalities including Shereshevscky syndrome - Klinefelter and the Turner syndrome).

In certain cases, preimplantation genetic diagnosis is carried out not connected with possible genetic disorders of the fetus and the aim of this diagnosis is the birth of a child with certain genetic characteristics. Such cases include, for example, preimplantation genetic diagnosis conducted to prevent Rhesus conflict.

There are cases when there is a combined number of prerequisites for the use of preimplantation genetic diagnosis. One such example is the case when with the use of preimplantation genetic diagnosis an HLA was born -which is a compatible donor for stem cell therapy of Fanconi anemia in proband. In this case, Fanconi anemia was excluded and the right type of histocompatibility was chosen.