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Pre-implantation genetic diagnosis (PID)

Examination of embryos for genetic errors

The pre-implantation genetic diagnosis is a diagnostic procedure for the examination of embryos for genetic hereditary diseases. It was developed at the beginning of the 1990s and applied especially in Australia, Belgium, England and the United States.

The prerequisite for PID is in vitro fertilisation, because the embryo cells can only be retrieved in vitro for further genetic analysis. Then, the cells are examined for genetic faults in the laboratory. Different methods are available for this purpose depending on the question: e.g. chromosome diagnosis with fluorescence in situ hybridisation (FISH) and the molecular diagnosis with the help of the polymerase chain reaction (PCR, the so-called comparative genomic hybridisation (CGH) is used).

Prevent implantation and later miscarriage

Chromosomal maldistributions such as Trisomy 21 can be found using chromosome diagnosis; diseases caused by single gene defects such as cystic fibrosis, Huntington's disease or thalassaemia can be found using PCR. With the exception of chromosome maldistributions, certain genetic defects can be detected before implantation of the embryo. Thus, implantation and any subsequent miscarriage of a diseased embryo can be prevented. If a pregnancy occurs after the transfer of healthy embryos, a prenatal diagnosis in the form of a chorionic villus biopsy or an amniocentesis is performed in any case with a genetic disposition of the parents to exclude a misdiagnosis.

Procedures not yet approved in Germany

In Germany until the summer of 2010, the ban on PID was derived from various provisions of the Act of 13 December 1990 on the protection of embryos (ESchG).
On July 6, 2010, the Federal Supreme Court decided that the PID intended after extracorporeal fertilisation by means of blastocyst biopsy and the subsequent examination of the extracted pluripotent trophoblasts for genetic damage, represents no violation of the Embryo Protection Act.

On 07 July 2011, the Bundestag approved a non-partisan bill, which bans the PID in principle but allows it if a serious hereditary disease in the child or a stillbirth or miscarriage is likely due to the genetic predisposition of the parents. The bill for approval of pre-implantation genetic diagnosis (PräimpG) was adopted in the Federal Council on 23 September 2011. The law has been valid since 8 December 2011.

The details of the execution of the bill at the country level are described in the Präimplantationsdiagnostikverordnung (PIDV)[Pre-Implantation Diagnosis Regulation]. This was already published on the 25 Feb. 2012 and went into effect on 01 Feb. 2014. The actual implementation of the PIDV at the at the Federal State level, the detailed requirements and procedures remain unclear. Therefore is currently not foreseeable when a PID can be performed in North Rhine-Westphalia.