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Preimplantation Genetic Diagnosis - PGD

Preimplantation Genetic Diagnosis is a procedure during which one or two cells from an embryo are removed and tested for specific genetic conditions or chromosomal disorders. Embryos created in the process of IVF can be tested for serious genetic disorders, selected and then transferred into woman's uterus or vitrified for future use.
PGD allows for the evaluation of embryos at a very early stage of their formation. This enables elimination of the risk of parents to child transmission of genetic diseases. Tests are carried out before becoming pregnant. Embryo biopsy does not carry any risks of damage. Indication for testing is usually patients' age, family history or a  diagnosed genetic disease carrier state.

Why is it worth it?

  • PGD may explain the problem of recurrent miscarriages or eliminate concerns about transmitting genetic diseases to offspring
  • research at such early stage increases the chance of successful in Vitro
  • all diseases associated with the presence of known to medicine point mutation are detectable by PGD

PGD can be used to test for over 100 genetic conditions. Diagnosis includes such diseases as Turner’s syndrome, Down syndrome, Edwards’ syndrome, Patau syndrome, Klinefelter syndrome, hemophilia, tuberous sclerosis, Huntington’s disease, cystic fibrosis, congenital deafness, mitochondrial cytopathy, spinal muscular atrophy (SMA), Duchenne muscular dystrophy.

PGD tests also chromosomal abnormalities including:

  • Translocations
  • Aneuploidy (chromosome additions or deletions)


  • a family history of a serious genetic condition
  • a positive outcome of the case history concerning genetic load
  • advanced maternal age (women over 40 years old)
  • spontaneous miscarriages
  • unsuccessful in Vitro attempts

How does PGD work?

During normal in Vitro fertilization process, fertilized eggs are collected. Embryos are growing in the laboratory for two or three days. When the embryo's cells are divided and the embryo consists of around eight cells, embryologist removes one or two of them for testing purpose. If the embryo does not contain the gene which can cause the genetic disorder, it will be transferred to woman's uterus and have opportunity to develop. About two weeks after transfer, a  pregnancy blood test is carried out.

To find out more about PGD, consult with our Specialist today!

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