METHODS AND TECHNOLOGIES

As part of preimplantation genetic diagnosis (PGD), embryonic cells that later form the placenta (so-called trophectoderm cells) are directly examined, and both maternal and paternal genetic material is assessed. Prior to this, genetic counseling must be conducted to determine whether PGD is feasible for the specific condition or disorder in question. The performance of PGD, which is regulated in Germany by an amendment to the Embryo Protection Act, is only permitted in licensed PGD centers following approval by an ethics committee (positive decision). Our PGD center is authorized to conduct PGD.

Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)

By examining a few trophectoderm cells from an embryo, severe single-gene disorders can be diagnosed as part of in vitro fertilization (ICSI). To do this, a specific testing system must be established. This individualized PGD testing system includes:

1. Direct detection of the disease-causing variant (mutation) known in one or both parents, using PCR including fragment length analysis (for deletions) or single nucleotide sequencing (for single nucleotide variants).
2. Analysis of SNP markers (indirect detection). These polymorphic genetic markers located near the known variant are genotyped using SNP-array (karyomapping technology).

The combination of these two detection techniques leverages the phenomenon of genetic linkage between two closely adjacent genetic loci, significantly increasing the diagnostic reliability of PGD.

Preimplantation Genetic Testing for Aneuploidy (PGT-A)

One of the main causes of low pregnancy rates and miscarriages in assisted reproduction is numerical chromosomal abnormalities, such as the loss or gain of chromosomes. These abnormalities can occur in the egg or sperm or arise shortly after fertilization, impairing the embryo’s further development.

Preimplantation Genetic Testing for Structural Chromosomal Aberrations (PGT-SR)

In some cases, infertility or recurrent miscarriages may be caused by structural chromosomal abnormalities, such as reciprocal or Robertsonian translocations, inversions, deletions, or duplications. If one parent is a carrier of a balanced translocation, it can be passed on in an unbalanced form to offspring.

Chromosomal aberrations in trophectoderm cells or polar bodies are analyzed following whole genome amplification (WGA) using next-generation sequencing (NGS).