PGD is a diagnostic method intended for couples who are concerned about the risk of transmitting a genetic disease to their children. The aim of preimplantation diagnosis is to detect abnormal embryos before their placement into the uterus.

This procedure is an alternative for prenatal diagnosis currently recommended to genetically affected couples who want to give birth to a healthy child. PGD allows to reduce the risk of having to take difficult decisions concerning a potential termination of pregnancy in case of positive genetic diagnosis in the developing fetus.

Preimplantation diagnosis is a laboratory procedure which enables the evaluation of the genetic material of an egg cell before its fertilization or of an embryo before its transfer to the uterus. It can be carried out only in combination with the assisted reproductive techniques.

  • Preimplantation diagnosis is recommended in the following cases:

1. High risk of transmitting genetic disorders to future children, i.e.:

  • in couples who are carriers of balanced translocations confirmed with karyotype analysis of peripheral leukocytes
  • in couples where one partner carries a dominant mutation causing a genetic disease
  • in couples where partners carry recessive mutations causing a genetic disease
  • in couples who have experienced recurrent miscarriages of undiagnosed etiology
  • in couples who several times had to take the decision to terminate pregnancy due to abnormal results of prenatal tests

2. Lower risk of transmitting genetic disorders to future children, for the purpose of increasing the chances for successful IVF procedure

  • in couples treated for infertility with failures of previous treatment with IVF-ET method despite transferring good quality embryos
  • in female patients >37 years of age, in order to decrease the percentage of aneuploidies present in the egg cells and related to the patient’s age

3. Couples where HLA typing is required to obtain umbilical cord blood stem cells for siblings, e.g. for the transplantation of stem cells to a sick sibling.

PGD consists in collecting the egg’s or embryo’s genetic material and then carrying out the genetic analysis of this material.

Risk associated with PGD

There is a possibility that the embryo can be injured during cell collection for the purpose of PGD diagnosis. This risk is below 1% if polar bodies are collected. Moreover, the obtained result of preimplantation diagnosis can be ambiguous as not each cell collected for analysis has genetic material of the same value as other cells.

PGD at Invicta

In 2005, INVICTA Clinic was the first in Poland to introduce preimplantation diagnosis to the in vitro procedure. Today, we can be proud of the most important successes in this scope – many healthy children born in couples with high risk of serious genetic disorders (e.g. cystic fibrosis, SMA, COX syndrome, Huntington’s disease and many other). We are the only Clinic in Poland which is the full member of ESHRE PGD Consortium, and according to the data of this organization we are the world’s 6th facility as regards the number of performed diagnoses (over 1,000 PGD diagnoses performed by the end of 2011.) We are the only facility in Poland which performs the so-called full PGD, where both embryos and eggs are examined.

The selection of embryos for transfer on the basis of their sex is performed at INVICTA only when this is medically indicated.

Prior to preimplantation diagnosis, it is necessary to read about the procedure, to have specialist medical consultations, including genetic consultations, and to sign appropriate documents.

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Published: 3 November 2015 Updated: 3 April 2017