Preimplantation diagnosis

Patients who would like to start the treatment at Klinika Bocian have also the opportunity to additionally carry out preimplantation genetic diagnosis – PGS and PGD, conducted by modern NGS method (Next-Generation Sequencing). The embryos are tested for genetic disorders and only those, which are free of any defects, are later transferred to the uterus. Therefore preimplantation diagnosis significantly decreases the risk of inheriting genetic diseases by children.

PGS

PGS - Preimplantation Genetic Screening

PGS is a screening test, which enables to confirm or rule out the presence of chromosomal dysfunctions (aneuploidies), which causes the following syndromes: Down, Patau, Edwards, Klinefelter, Turner. This test can also confirm other aneuploidies, which have impact on unsuccessful embryo implantation in the uterus and miscarriages.


PGD

PGD - Preimplantation Genetic Diagnosis

PGD is recommended for couples with diagnosed genetic load and the possibility of passing the mutation of one gene. It is necessary to attend a genetic consultation first. During PGD procedure the embryos are checked for the following single gene disorders: spinal muscular atrophy (SMA), cystic fibrosis, haemophilia, Duchenne muscular dystrophy (DMD), sickle cell anemia, fragile X syndrome, Huntington's disease.


Wskazania PGS/PGD

Indications for preimplantation diagnosis:

Preimplantation diagnosis is conducted during IVF procedure based on the following indications:

  • Mother is older than 40 y. o.;
  • One or both partners have abnormal karyotypes;
  • Idiopathic miscarriages of an unknown cause in the past;
  • Unsuccessful IVF procedures despite of good quality embryos being transferred;
  • Low-count semen;
  • Chromosomal disorders diagnosed in foetuses during previous pregnancies;
  • Being a carrier of balanced translocation, Robertsonian translocation, or chromosomal inversions (one or both partners);
  • In case of PGD – one or both partners are carriers of single gene mutation

Badania genetyczne

Process of preimplantation genetic tests

The first step in preimplantation diagnosis is a trophoblast biopsy. 5-6 cells are carefully obtained from the embryo in blastocyst stage of development. It is really crucial not to damage the embryonal mass. Then the embryos are frozen, and the cells are secured in the sterile conditions and taken to the genetic laboratory. Depending on medical indications, PGD or PGS tests are performed by NGS method (Next-Generation Sequencing). The embryos without any defects can be later thawed and transferred to the uterus in the next or the following menstrual cycle.


Price list

PGS with blastocyst biopsy - up to 8 embryos (biopsy of every additional embryo - 100 euro/embryo)

Number of embryos

1-2

1 300 €

3-4

2 000 €

5-6

2 700 €

7-8

3 300 €

PGD single gene

1 cycle

4 750 €

Next cycle

4 500 €