Pre-implantation genetic testing (PGT)

Pre-implantation genetic testing (PGT) is used within the framework of in vitro fertilization (IVF) to specifically examine embryos for genetic alterations before they are implanted into the uterus.

Depending on the indication and laboratory approach, PGT can be divided into three types of examination.

Aneuploidy screening on trophectoderm cells (PGT-A and PGT-SR)

During aneuploidy screening on trophectoderm cells, the embryo is examined within the framework of an IVF for both numerical chromosomal alterations (chromosomal aneuploidies) and structural gains and losses (segmental aneuploidies). In contrast to aneuploidy screening on polar bodies, both maternal and paternal genetic alterations can be detected here.

Information About the Test

In aneuploidy screening on trophectoderm cells, the DNA of the trophectoderm cells is first amplified using Whole Genome Amplification (WGA). Subsequently, analysis is performed using array CGH to identify gains and losses of entire chromosomes as well as chromosomal segments. As a rule, chromosomal alterations from a size of 10 megabases can be reliably detected.

Indications

In Austria, the requirements for pre-implantation genetic testing (PGT), including aneuploidy screening on trophectoderm cells, are legally regulated in the Reproductive Medicine Act (FMedG). According to § 2a FMedG, an analysis is only permissible under one of the following conditions:

After three or more transfers of viable cells within the framework of reproductive medical treatment, no pregnancy could be induced and there is reason to assume that this is due to a genetic disposition of the viable cells and not to other causes.
At least three medically confirmed miscarriages or stillbirths occurred spontaneously and the cause was highly likely due to the genetic disposition of the child.
Due to the known genetic disposition of at least one parent, there is a serious danger of a miscarriage, stillbirth, or a hereditary disease in the child.

Request Test

Detailed information on sample submission can be found here.

Monogenic pre-implantation genetic testing (PGT-M)

Monogenic pre-implantation genetic testing (PGT) is performed within the framework of in vitro fertilization (IVF) to examine embryos for known familial genetic alterations before implantation. This examination makes it possible to select embryos that do not carry the known disease-causing allele. The prerequisite for this is that the genetic disease is known and the specific mutation has been clearly identified. Furthermore, the analysis must be prepared by the laboratory accordingly through a prior segregation analysis.

Information About the Test

Monogenic pre-implantation genetic testing (PGT-M) is a highly specialized and complex examination. In this field, HLN Genetik cooperates closely with the private practice of Prof. Dr. F. Laccone.

Prof. Laccone provides comprehensive consultation and care for patients and coordinates the entire process. The examination is planned individually for each couple and all analysis steps are carefully checked multiple times.

Thanks to our precise approach, we have an extremely low rate of oocytes or embryos with inconclusive test results and have helped numerous families have a healthy child since 2015.

For inquiries and further coordination please contact us directly. We are happy to provide you with all necessary information and initiate further steps.

Indications

In Austria, the requirements for monogenic pre-implantation genetic testing (PGT) are legally regulated in the Reproductive Medicine Act (FMedG). According to the FMedG, an analysis is only permissible under one of the following conditions:

A hereditary disease within the meaning of § 1 Para. 3 FMedG exists if the child becomes so ill during pregnancy or after birth that it

can only be kept alive through the constant use of modern medical technology or the constant use of other medical or nursing aids that severely impair its lifestyle, or
exhibits severe brain damage, or
will suffer permanently from severe pain that cannot be effectively treated and, furthermore, the cause of this disease cannot be treated

Request Test

Since monogenic pre-implantation genetic testing (PGT-M) always involves individual complex issues, please contact us directly before sending a sample.

We are happy to provide you with all necessary information and initiate further steps.