PGD - Preimplantation Genetic Diagnosis

IVF treatment and preimplantation genetic diagnosis (PGD): New hope for infertile couples

Are you trying to have a baby but not succeeding? Do you always encounter any obstacles? The pregnancy does not occur naturally and what is much worse, one does not help IVF?

Preimplantation genetic diagnosis (PGD) may be a new hope for you. PGD offers even more options for infertility treatment by allowing the testing of genetic abnormalities in embryos and possible inherited diseases before transfer to the uterus. Preimplantation genetic diagnosis should be the basis of any modern IVF treatment. It brings a number of benefits to infertile couples and helps them achieve their pregnancy.

IVF with preimplantation genetic diagnosis increases the chance of successful transfer

IVF treatment with PGD begins like normal IVF treatment, with ovarian stimulation and egg retrieval. The retrieved eggs are fertilized with sperm, and the resulting embryos are further developed in an incubator. In modern clinics, all embryos are cultured until the blastocyst stage, which is 5 to 6 days. After that, the samples taken from embryos are sent to a genetic laboratory for testing. During embryo transfer, only the tested embryos without genetic mutations are then transferred.

As PGD enables the selection of the healthiest and highest quality embryos for transfer to the uterus, it increases the chance of a successful pregnancy and reduces the risk of miscarriage. In addition, it also serves to prevent hereditary diseases. PGD is also used when hereditary diseases have already occurred in the family of the intended parents. Preimplantation genetic diagnosis allows embryos without this genetic disease to be selected and then transferred into the woman’s uterus. This can ensure that the baby does not have this disease.

Three types of preimplantation genetic diagnosis.

Preimplantation genetic diagnosis aneuploidy is a test that can distinguish embryos with normal chromosome number from embryos with numerical alteration (aneuploidy). The aim of this examination is to transfer an embryo with the correct chromosome number to reduce the risk of spontaneous miscarriage and support the possibility of embryo implantation. This reduces the number of transfers and IVF cycles needed to get pregnant, and thus the psychological, physical, and financial demands of the entire treatment. Preimplantation genetic diagnosis aneuploidy is suitable for women over 35 years of age, for couples with repeated miscarriages, for patients who have had several unsuccessful transfers, for women who have terminated a pregnancy due to a developmental disorder or who have had a child with a developmental disorder. For couples diagnosed with a chromosomal disorder, for men with poor spermiogram results, and for couples where one of the partners has cancer.

Preimplantation diagnostics for chromosomal aberrations focuses on the examination of chromosomal disorders and is suitable for those couples in which one or both partners are carriers of chromosomal abnormalities and there is an increased risk that a child could be born with such a disease. Thanks to this method, it is possible to select embryos that are not burdened by chromosome translocation or other structural chromosome defects.

Preimplantation diagnostics for monogenic diseases – is suitable for couples who are planning to have a baby and have a proven genetic burden in their family. The aim is to select healthy embryos again. This is a targeted diagnosis of certain severe diseases. The most common diseases include cystic fibrosis, metabolic disorders, spinal muscular atrophy (SMA), muscular dystrophies, familial hypercholesterolemia, Huntington’s disease and Fragile X syndrome.

Your fertility expert

The article was published by Dr. med. univ. Dr. scient. med. Kateřina Veselá created and provided by our partner clinic “Repromeda” in Brno and Ostrava.

REPROMEDA is a clinic for reproductive medicine and preimplantation diagnostics. Our goal is to help couples who wish to have children with the help of assisted reproduction. The motto of our work is “Helping to start a family”.

MUDr. Kateřina Veselá, Ph.D.
MUDr. Kateřina Veselá, Ph.D.

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