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PGD (Preimplantation genetic diagnosis)&PGS-NGS

It is a technique that allows for the detection of genetic and chromosomal disorders in embryos harvested after IVF procedure and includes the subsequent transfer of normal samples into the patient's uterus

Indications

woman’s age over 35 and man’s age over 40;
numerous miscarriages in anamnesis;
repeatedly failed IVF attempts;
male infertility caused by chromosomal disorders;
parents who are carriers of changes, inversions and other types of abnormalities.

PGD in details

PGD (Preimplantation genetic diagnosis) is a technique that allows for the detection of genetic and chromosomal disorders in embryos harvested after IVF procedure and includes the subsequent transfer of normal samples into the patient's uterus.

PGD is undertaken during IVF cycles on the preproductologist’s advice or on request of parents-to-be. It constitutes the most precise and the safest technique for preventing genetic and chromosomal diseases in a child – and the only one that allows doing so before pregnancy. Moreover, PGD increases the chances for successful implantation and reduces the risk of pregnancy complications.

Our center shows one of the highest rates of successful IVF outcomes in Russia. The average figure is 46%. PGD increases the chances of conceiving a healthy child. The procedure of biomaterial retrieval is performed by the leading Moscow embryologists who possess academic degrees and immense practical experience
PGD is implemented in the advanced genetic laboratory with an outstanding reputation for providing reliable results. Our clinic is chosen by the best geneticists in the field for cooperation

What is the cost of IVF with PGD in Moscow? Our patients can choose between several preimplantation diagnosis techniques available in our center. The cost depends on the type chosen. The full price list can be found on the page below.

What is IVF with a preimplantation genetic diagnosis?

The inclusion of PGD in the IVF program for the embryo screening can be accounted for several parameters. Diagnosis is undertaken before the procedure of transferring a gestational sac to a mother-to-be, that is, before pregnancy – here lies its fundamental difference from all the other types of screening for chromosomal and genetic disorders.

During IVF cycle doctors retrieve reproductive cells of parents-to-be and then conduct the procedure of in vitro oocyte insemination. Generated embryos are being grown in an incubator for 5-7 days and the best of them are then transferred to the patient's uterine cavity. PGD is undertaken upon completion of the culture process. This stage presupposes a process of retrieval of 3 to 5 embryo's cells to be analyzed.

Genetic testing expands a range of opportunities for embryo selection and allows for the transfer of those of them that have no chromosomal abnormalities or genetic disorders.

PGD helps to prevent the birth of an ill child, miscarriages, missed miscarriages and to save more energy for an upbringing of a healthy child.

When the material for analysis is retrieved and how it is done

Material for analysis is harvested via biopsy. The procedure is implemented by an embryologist. With the help of special medical tools, doctor carefully separates several cells from each embryo. In our clinic, a specialist does biopsy via a cutting-edge micromanipulation laser equipment. Then these samples are submitted to the geneticists in a laboratory whereas embryos undergo the procedure of vitrification (freezing). The results of medical tests and the recommendations from the geneticists regarding the matter of certain embryos to be transferred to a mother-to-be are passed on to another specialist — reproductologist — who will conduct the IVF program.

In Life Line, to conduct the further tests we retrieve cells from a 5-day-old embryo that has reached the blastocyst stage. Trophectoderm (blastocyst's ectoderm) biopsy is the least traumatic and the most effective procedure to undertake. The fact is that a 5-day-old embryo already contains around 200 cells. This allows for a little ‘pinch off' and further analysis of those cells that are responsible for a subsequent process of forming extraembryonic membranes. Characteristics of these membranes play a key role at the moment of embryo implantation into a uterine cavity.

Accuracy and safety of PGD in IVF

The level of accuracy of a genetic diagnosis exceeds 90%. Reliability of analysis is largely dependent on the proficiency of the embryologist that undertakes trophectoderm biopsy. However, the implementation of preimplantation analysis does not obviate the need for maternal screenings to be undertaken. If they detect a high risk of chromosomal abnormalities, the patient is prescribed with the invasive medical study.

Some patients worry that biopsy can harm their future child. Again, on the 5th day, the number of cells in a blastocyst is more than 200. Moreover, each of them is pluripotential, in other words, they are capable to form an actual independent organism. That is the reason why some cells can be retrieved with no negative impact on the health of a future child. The biopsy is especially safe when conducted by an experienced embryologist and via laser technologies.

Phases of embryo development and the procedure of PGD

Types of PGD conducted in Life Line clinic and indications for diagnostics

There exist two types of PGD that are safe and approved by the international scientific community. Each of them responds to different needs and both are available for our patients. Type of diagnosis is to be chosen in compliance with medical recommendations.

1. PGD of chromosomal abnormalities

Chromosomes are responsible for the whole range of characteristics, starting from the gender to the height, eye and hair color of a child. Each cell of the human body generally contains 23 pairs of chromosomes. However, a trisomy can sometimes develop in the process – in such disorders one extra chromosome occurs in one of the pairs. The outcome, in this case, is disastrous – it leads to the birth of an ill child.

  • presence of an extra chromosome 21 causes Down Syndrome.
  • presence of an extra chromosome 13 causes Patau Syndrome.
  • presence of an extra chromosome 18 causes Edwards Syndrome.

Furthermore, chromosomal abnormalities can cause embryo inviability and, consequently, lead to miscarriages and other pregnancy complications. Such kind of abnormalities can be easily detected by medical testing.

Screening allows for selection of those blastocysts for transfer that do not possess chromosomal disorders. It increases the chances for successful IVF outcome and reduces risks of miscarriages and the birth of a child with chromosomal disorders. Another advantage of this type of preimplantation analysis is to determine the gender of the embryo. This can be important if there is a risk of passing a hereditary disorder through the male or female line.


How the procedure is undertaken

This type of PGD allows for an analysis of all 23 chromosome pairs and assists in the prevention of an extra chromosome occurring in any of the pairs. The procedure is performed via:

  • aCGH technology, also known as Comparative Genome Hybridization;
  • Next-Generation Sequencing (NGS) technology, based on DNA sequencing.

Indications for use

  • a woman’s age over 35 and a man’s age over 40;
  • numerous miscarriages in anamnesis;
  • repeatedly failed IVF attempts;
  • male infertility caused by chromosomal disorders;
  • parents who are carriers of changes, inversions and other types of abnormalities.


2. PGD for monogenic disorders

This type of preimplantation diagnosis is recommended to couples with hereditary diseases in their families’ health histories. Diagnosis allows defining whether an embryo has inherited the mutation that will eventually cause the development of the disorder. Patients' doubts about their families’ health histories can be dispelled during a consultation with a geneticist. A doctor will examine your case and, if the circumstances require, refer for carrier screening and then decide whether it is necessary to undertake PGD.

Capacities of our partner genetic laboratory allow for the detection of the most wide-spread monogenic disorders:

  • cystic fibrosis,
  • hereditary myopathies,
  • spinal muscular atrophy,
  • sensorineural hearing loss,
  • many others.

Medical testing aims for other objectives as well. One of them is the necessity of treatment of an ill older child. In the family with a seriously ill child whose condition requires bone marrow transplantation, the problem can be solved by stem cell donation from a smaller brother or sister. What is important is for the little lifesaver to be healthy and possess the same histocompatibility as their ill sibling. For the further transplant procedure, our specialists with the assistance of PGD select an embryo that, firstly, has no mutations and, secondly, is histocompatible with an ill child.
The list of capabilities of PGD for monogenic disorders is still incomplete. Screening allows determining the Rh factor of an embryo. This is of particular importance when pregnancy involves a risk of rhesus incompatibility.

How the testing is undertaken

In the partner genetic laboratory, testing is undertaken via polymerase chain reaction with analysis of restriction fragment length polymorphism. Geneticists can employ test systems developed for 21 monogenic disorders. If a couple is diagnosed with a different disease, a corresponding test system is developed within short timeframes.

Indications

  • hereditary diseases in a family health history;
  • carrier mother or father-to-be;
  • the necessity of a bone marrow transplantation to an older ill child.
  • possibility of rhesus incompatibility during IVF-pregnancy.


Both types of PGD complement each other and, thus, can be combined. This kind of combination produces a more precise result so that parents-to-be can quit their worries about the health condition of their future child.

Which type of PGD to choose?

Start your route to the delivery of a child with a geneticist counseling

Desirable pregnancy and the delivery of a healthy child are fundamental values for a couple that is planning IVF. Would your couple need a preimplantation diagnosis? Which type of testing to choose? Can they both be implemented? PGD is a complex scientific domain, only a specialist can provide you with solid recommendations. In the Life Line care center, you can receive a geneticist counseling. The main goal for a geneticist is to predict risks and chances for the birth of a healthy child.

Practice shows that sometimes parents-to-be can be unaware that their ancestors had suffered from chromosomal mutations or hereditary diseases. Our clinic offers a carrier test that allows for avoiding such situations. Based on test results, a geneticist in cooperation with an embryologist and reproductologist develops a schedule of treatment to obviate pregnancy complications and the delivery of an ill child.


In order to make an appointment with reproductologist or geneticist call us or submit our online application form.

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