Part of our guide: Assisted reproduction

This page covers Germany, Austria, and Switzerland.

Preimplantation genetic testing (PGT for short) is the genetic testing of embryos before they are transferred into the uterus. The goal: to transfer only embryos without chromosomal abnormalities or known hereditary diseases.

Demand for PGT is rising, especially among women over 38 and among couples with known genetic risks.

The three types of PGT

PGT is an umbrella term. Depending on the question being asked, there are three variants:

Type Question Typical target group
PGT-A (aneuploidy screening) Is the number of chromosomes correct? Women over 37, recurrent miscarriages, repeated IVF failure
PGT-M (monogenic disorders) Does the embryo carry a known hereditary disease? Couples with cystic fibrosis, sickle cell anemia, Huntington's disease, etc.
PGT-SR (structural rearrangements) Are there structural chromosomal changes? Carriers of translocations or inversions

PGT-A is the most common type worldwide. In Germany, however, aneuploidy screening alone is heavily restricted by law (see Legal situation).

How does PGT work?

The process is integrated into every IVF cycle:

Days 1 to 12: Hormonal stimulation and egg retrieval, a completely standard IVF/ICSI process.

Days 5 to 6: Trophectoderm biopsy. The embryologists remove 5 to 10 cells from the outer cell layer (trophectoderm) of the blastocyst. The embryo itself (the inner cell mass) is not touched in the process.

Freezing: All biopsied embryos are vitrified (flash-frozen). The transfer takes place only in the next cycle, after the results are available.

Genetic analysis (7 to 14 days): The removed cells are analyzed in the genetics lab. For PGT-A, this is done by next-generation sequencing (NGS), and for PGT-M by a custom-designed genetic test.

Result: Each embryo gets a status: euploid (chromosomally normal), aneuploid (abnormal), or mosaic (mixed result).

Transfer: Only euploid embryos are transferred. Aneuploid embryos are discarded. For mosaic embryos, the decision is made case by case and is usually discussed with the couple in person.

Test tubes for genetic analysis in the PGT lab

What does PGT-A offer?

Commonly cited reference values per transfer look like this:

Metric Without PGT-A With PGT-A
Implantation rate per transfer 30% to 35% 50% to 65%
Miscarriage rate 15% to 25% 5% to 10%
Time to pregnancy 2 to 3 transfers 1 to 2 transfers

The values with PGT-A refer to the transfer of an embryo that has already been tested. The catch: not every cycle yields a euploid embryo. In a 42-year-old woman, only 20% to 25% of embryos are chromosomally normal. Sometimes two or three stimulation cycles are needed before an embryo that can be transferred is available.

Important to understand: PGT-A does not increase the overall success rate per stimulation cycle. It can, however, reduce the number of unsuccessful transfers. In most randomized studies, no benefit in the live birth rate was found, and some studies point to fewer miscarriages. For this reason, the European professional society ESHRE currently does not recommend PGT-A as a routine test.

Modern lab equipment for preimplantation genetic testing

Costs

PGT is not covered by health insurance funds. You pay the full cost yourself:

Service Cost
Biopsy (per embryo) €300 to €500
Genetic analysis PGT-A (per embryo) €300 to €600
Genetic analysis PGT-M (one-time test development) €2,000 to €4,000
PGT-M per embryo (after test development) €400 to €800
Cryopreservation (required with PGT) €300 to €500
Total PGT-A (with 4 embryos) €2,500 to €4,500

On top of that come the regular IVF/ICSI costs of €3,500 to €6,500. An IVF cycle with PGT-A therefore costs €6,000 to €11,000 in total. For PGT in Germany, including counseling, review by the ethics committee, assisted reproduction, and cryopreservation, familienplanung.de gives total costs of up to €20,000.

Legal situation in Germany, Austria, and Switzerland

Germany

PGT has been permitted in Germany since 2011 under strict conditions. In principle, the Embryo Protection Act (Section 3a ESchG) prohibits the genetic testing of embryos, but it allows it as an exception in the case of:

  • A high risk of a serious hereditary disease due to the genetic predisposition of the parents (PGT-M, and PGT-SR in the case of chromosomal changes in one parent)
  • Suspected serious damage to the embryo that would, with a high probability, lead to a stillbirth or miscarriage

The law does not provide for routine aneuploidy screening (PGT-A), for example based on age alone. Every individual case must be reviewed and approved in advance by an ethics committee, and PGT may only be carried out at specially approved centers.

Austria

In Austria, PGT has been permitted since 2015, but only for three indications (Section 2a of the Austrian Reproductive Medicine Act, Fortpflanzungsmedizingesetz):

  • After at least three embryo transfers without a pregnancy, if a genetic cause is to be assumed
  • After at least three medically documented spontaneous miscarriages or stillbirths with a probable genetic cause
  • In case of a serious risk of a miscarriage or stillbirth or of a serious hereditary disease due to the genetic predisposition of one parent

Routine PGT-A screening, for example based on age alone, is not permitted without one of these indications. The testing may only be carried out at approved facilities that are independent of the IVF center.

Switzerland

In Switzerland, PGT has been permitted since September 1, 2017. PGT-A is permitted to detect chromosomal changes that can impair the embryo's ability to develop. PGT-M is subject to strict conditions, such as the risk of a serious hereditary disease for which there is no effective therapy. Genetic counseling is mandatory, and no more than twelve embryos may be developed per treatment cycle. The costs are not covered by mandatory basic health insurance (Grundversicherung).

Who does PGT make sense for?

PGT-A is mainly considered in the following situations:

  • Age over 37 or 38: The chromosomal error rate rises sharply from this age onward
  • Recurrent miscarriages (≥ 2): Chromosomal abnormalities are present in 50% to 60% of cases
  • Repeated IVF failure (≥ 2 unsuccessful transfers): PGT-A can uncover the cause
  • Known translocation in one partner: PGT-SR is the main option here

PGT-A is less likely to make sense for:

  • Women under 35 on their first IVF attempt: The chromosomal error rate is still low
  • Very few embryos (1 to 2): The biopsy reduces the cell mass, and the risk-benefit ratio shifts

Keep in mind: Whether PGT-A actually improves the chance of having a child at an older age or with recurrent miscarriages has not yet been sufficiently proven scientifically. In Germany and Austria, aneuploidy screening is also permitted only under the narrow legal conditions.

Frequently asked questions

Does the biopsy harm the embryo?

Trophectoderm biopsy is considered safe. Studies show no increased rate of birth defects in children born after PGT. But: every biopsy is a procedure performed on the embryo. In rare cases (under 1%), an embryo does not survive the biopsy. More about PGT on our overview page.

How accurate is PGT-A?

The test is very reliable, but not error-free. False-positive results (an embryo is classified as abnormal but is healthy) do occur. For this reason, couples should also be informed about mosaic embryos in advance. They are not automatically ruled out for transfer.

How long does it take until the results are available?

7 to 14 days for PGT-A, 3 to 4 weeks for PGT-M (longer the first time because of test development). During this time, the embryos stay frozen.

Does health insurance cover PGT costs?

In Germany: no. Couples pay the costs of PGT themselves. The statutory health insurance fund only contributes to assisted reproduction if fertility is demonstrably impaired and the other requirements are met. In Switzerland, mandatory basic health insurance does not pay for IVF and therefore does not pay for PGT either. In Austria, the IVF Fund (IVF-Fonds) covers 70% of the IVF costs if there is a suitable indication. Whether the genetic testing itself is covered is best clarified with the center beforehand. With private health insurance, it depends on the contract. Use our Fertility Clinic Finder to find the right clinic.

What happens to abnormal embryos?

Aneuploid embryos are not transferred. As a rule, they are discarded or, if the couple agrees, made available for research. This is an emotional decision that should be clarified in a personal conversation with the treatment team.

Sources

FE

About this article

Fertilio Editorial Team

The Fertilio Editorial Team researches fertility topics using specialist sources such as the German IVF Registry (Deutsches IVF-Register, D.I.R.), medical guidelines, and statutes. The sources are listed at the end of each article. The content does not replace medical advice.