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Preimplantation Genetic Diagnosis

Преимплантационная генетическая диагностика

Genetic preimplantation diagnosis is designed for examination of embryos before IVF. Diagnostics aim is to assess risks of developing possible pathologies in a child. It helps increase likelihood of having healthy children in families where parents suffer from severe congenital ailments.

Today it is one of the most practical and effective procedures. It’s prescribed to people with high risks of having child with chromosomal or genetic defects. Thanks to this method, completely healthy children were born in many families with congenital ailments. However, doctors still cannot determine the long-term indicators of pre-diagnosis. It means there’s no guarantee a particular disease won’t develop in children’s bodies several years later.

As a rule, this procedure is carried out immediately before IVF and then again at 2-3 months of pregnancy. A biopsy of the amniotic fluid or placenta is required. Repeated tests allow specialists to get final confirmation children have no congenital pathologies.

Preimplantation Genetic Diagnosis demands involvement of a few clinical structures. IVF departments have special laboratories for molecular or cytogenetic PGD, where taken biological structures are examined. Diagnosis is provided only after a preliminary consultation with a doctor who issues a separate permit for this procedure.

First stage of this procedure is IVF itself. Subsequently, embryos are analyzed, and then viable cells are implanted in the uterine mucosa.

Specialists practice the following diagnostics.

  1. PGT-A – aneuploidies detection – anomalies of the chromosome code.
  2. PGT-M – monogenic pathologies identification.
  3. PGT-SR – diagnostics of anomalies in the embryos’ biological structures.

When May Preimplantation Diagnostic Method be Recommended?

Indications for this procedure may be as follows.

  1. Expectant mother over 35.
  2. If spontaneous rejection of embryos or termination of pregnancy has repeatedly occurred during previous IVFs.
  3. The patient was previously diagnosed with congenital chromosomal defects.
  4. Infertility roots in a couple are male factors.

Pre-examination helps prevent:

  • implantation of embryos being able to provoke a miscarriage due to defects in chromosomal structures;
  • birth of babies with gene pathologies and serious chromosomal defects.

This method has given specialists opportunities to help families save healthy descendants preventing birth pathologies passing to other generations.

Preimplantation genetic diagnosis costs vary: 300-1600 US dollars.

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