Reproductive Genetics

Date: 19.10.2015

Reproductive Genetics
To whom Reproductive Genetics is recommended?

Visit to the geneticist is required to get comprehensive survey of couples in cases if:

  • parents has a known genetic disease or confirmed chromosomal abnormalities
  • there were repeated spontaneous abortions
  • during pregnancy were found structural abnormalities of the fetus
  • revealed changes in the screening of pregnant which indicate an increased risk of pathologies.

Genetic testing is also actual for couples who are just beginning to think about the baby. Complete medical and genetic counseling, which includes a comprehensive survey of parents, is recommended even at the planning stage of pregnancy if:

  • in your family or in your relatives’ families have been cases of children born with developmental disabilities, mental and physical retardation, hereditary or suspected hereditary diseases, stillbirth;
  • you are concerned about the health of the unborn child due to late pregnancy (after 35 years), the adverse effects on the fetus (mother's illness, medical, physical and chemical factors).

Clinical geneticist helps minimize the risk of diseases, appointed a course of genetic researches, develops a plan of survey for each situation, which significantly increases the chance of having a healthy baby.

What genetic examinations can be carried out?

Molecular testing for thrombophilia – patients with repeated miscarriages, with spontaneous abortion history, as well as the complications associated with the placenta, need to carry out molecular testing for the risks of thrombophilia and their elimination.

Non-invasive determination of fetal Rhesus factor in pregnant women – research is needed to prevent hemolytic disease of the fetus, due to the Rh factor incompatibility between maternal and fetal blood. If the pregnant woman is Rh- but her partner is Rh+, there is a 50%-possibility that the newborn may inherit Rh+ from the father. These couples also have risk of fetal and neonatal hemolytic disease development and they require early determination of the fetal Rh factor to elaborate further clinical tactics.

Karyotyping – research of human karyotype and the state of its chromosomes. Karyotyping is assigned when necessary to identify any changes in chromosome structure.

Molecular testing of the Y-chromosome microdeletions (AZF factor) is indicated for patients with azoospermia or severe oligospermia. Testing allows to choose the right strategy for the treatment of male infertility.

  • PGS (Preimplantation Genetic Screening) – genetic testing of received embryos and possibility to select for the embryo transfer only those that have a better chance to implant in the uterus. PGS can be carried out using the aCGH method (array Comparative Genomic Hybridization) on microchips, allows simultaneous testing of all chromosomes in an embryo before the embryo transfer.
  • PGD (Preimplantation Genetic Diagnosis) in case of rearranged parental karyotype – to select viable embryos, increasing chance of implantation. Embryonic Preimplantation Genetic Testing (PGS and PGD) make it possible to choose the best and most viable genetically competent embryos, effectively increase the chance of implantation, clinical pregnancy and success already after the first cycle of PGS/ PGD.

 

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