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Preimplantation diagnostics

Preimplantation diagnostics is a diagnostic procedure of examining the embryos in the 4-8th cell stage for genetic hereditary diseases. It was developed in the beginning of the 90s and is primarily applied in Australia, Belgium, and England and in the USA.

Prerequisite for a preimplantation diagnostics is In Vitro Fertilisation, since only In Vitro one or two cells can be taken from the embryo. After that, the embryos are examined in the laboratory for genetic defects. Depending on the problem, two different procedures are available for that, the chromosome diagnostics with Fluorescent In-Situ Hybridization and the molecular genetic diagnostics with the help of polymerase chain reaction (PCR). With the help of chromosome diagnostics, maldistribution of chromosome as for example in the trisomy 21 can be recognised; with the help of PCR – diseases that can be attributed to individual genetic defects, such as cystic fibrosis, Huntington’s chorea or thalassaemia. Except for maldistribution of chromosome, some certain genetic defects can be diagnosed before the implantation of the embryo, thus implantation and possibly an abortion of the diseased embryo later on can be prevented. If pregnancy occurs after the transfer of the healthy embryo, then given parental hereditary affliction prenatal diagnostics is carried out in form of a chorion villus biopsy or an amniotic fluid puncture in order to exclude a wrong diagnosis. In Germany, the Embryo Protection Act prohibits any manipulation on the embryo including preimplantation diagnostics. The methods available to the reproduction medicine can help couples with certain diseases to get pregnant with a child not affected by these diseases. Given the current situation, the woman should accept “pregnancy on trial” and if needed a (socially acceptable) abortion or she should refuse to have children. It is possible that in the fut