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Genetic Compatibility Testing

Carrier Screening

Carrier screening shows whether you or your partner are carriers of a recessive gene mutation. This allows us to determine before treatment whether there is an increased risk of passing on a hereditary disease to your child. Our doctors will advise you individually on your options.

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What is carrier screening?

Carrier screening is a genetic test that checks whether you or your partner are carriers of a recessive gene mutation. It analyses over 500 genes that are associated with more than 800 recessive diseases. Most people carry such mutations without knowing it and without being affected by the disease themselves. However, if both partners are carriers of the same mutation, there is a 25% risk that their child will develop the disease.

Good to know: Carrier screening is based on a simple blood test and should not be confused with PGD. While carrier screening assesses the genetic risk of the parents before treatment, PGD examines the embryos themselves. If an increased risk is detected, PGT-M can be used in the next step to specifically test embryos for the affected mutation.

Who should consider carrier screening?

Carrier screening helps couples identify potential genetic risks for their children at an early stage. Our doctors will advise you on whether the test is recommended in your situation.

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Couples with increased security needs

Any couple may unknowingly be carriers of the same recessive gene mutation. Carrier screening provides clarity and enables an informed decision to be made about how to proceed.

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Couples with a genetic predisposition

If genetic disorders such as cystic fibrosis, Huntington's disease or Fragile X syndrome are already known to run in the family, carrier screening can provide a more accurate assessment of individual risk.

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Couples with recurrent miscarriages

In cases of recurrent miscarriages or unexplained infertility, carrier screening can help identify possible genetic causes and tailor further treatment accordingly.

Dr. med. Dirk Wallmeier

Why carrier screening is advisable before fertility treatment

Many people are carriers of a recessive gene mutation without knowing it. If both partners carry the same mutation, their child may be affected. Carrier screening gives us the opportunity to identify this risk at an early stage and plan the treatment correctly from the outset. If an increased risk is detected, we can use PGT-M to specifically select embryos that do not carry the mutation. This not only protects your child's health, but also avoids additional treatment cycles and saves you time and money.

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Genetic testing

How does carrier screening differ from PGT?

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Carrier screening examines the parents' blood and determines before treatment whether both partners are carriers of the same recessive gene mutation. PGT, on the other hand, examines the embryos themselves. If carrier screening reveals an increased risk, PGT-M can be performed as part of ICSI to specifically select embryos without the affected mutation for transfer.

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How does the Genetic Compatibility Test work?

Carrier screening is based on a simple blood test. The analysis helps to identify potential risks for recessive hereditary diseases that can be passed on by both parents. We then discuss the results and plan the next steps together.

Step 1

Initial Consultation & Genetic Counseling

In a detailed consultation, we will discuss your medical history, clarify any open questions and explain the carrier screening process. Together, we will decide whether the test is appropriate in your situation.

Step 2

Sample Collection

A simple blood sample is taken from both partners. The samples are then sent to our partner laboratory for genetic analysis.

Step 3

Genetic Analysis

Over 500 genes are tested for recessive mutations in the laboratory. The analysis usually takes two to three weeks.

Step 4

Analysis of Results

Our doctors evaluate the results and prepare a comprehensible summary for you.

Step 5

Individual Genetic Counseling

We will discuss the results and what they mean for your family planning in a personal consultation. If an increased risk is identified, we will explain the further options available to you, such as PGT-M as part of ICSI.

Further genetic testing

Carrier screening is one of several genetic procedures that can be used in fertility treatment. Find out more about other options here.

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PGT-A

PGT-A checks the number of chromosomes and detects random abnormalities such as trisomy 21. This increases the chances of a successful pregnancy and reduces the risk of miscarriage.

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PGT-M

PGT-M specifically tests embryos for a known genetic mutation in the family. This prevents hereditary diseases such as cystic fibrosis or Huntington's disease from being passed on to the child.

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PGT-SR

PGT-SR specifically examines embryos for structural chromosome abnormalities. This allows the risk of miscarriage and the risk of disability in the child to be specifically reduced.

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Frequently Asked Questions (FAQ)

Here you will find the most important questions and answers about carrier screening. If your question cannot be answered here, please feel free to contact us directly.

Is carrier screening recommended for everyone?

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Carrier screening is recommended for all couples who wish to have children, regardless of whether there is a history of genetic disorders in the family. Statistically, every person carries an average of two to three recessive gene mutations without knowing it. Our doctors will advise you on whether the test is recommended in your situation.

What is the cost of preimplantation genetic diagnosis?

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No, it screens over 500 genes for recessive diseases but cannot identify all mutations or complex hereditary conditions.

Is the test painful?

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No. Carrier screening is based on a simple blood sample, comparable to a normal blood test.

What if we are genetically incompatible?

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If both partners are carriers of the same recessive mutation, there is a 25% risk that the child will develop the disease. In this case, there are several options: PGT-M can be performed as part of IVF or ICSI to specifically select embryos without the affected mutation for transfer. Our doctors will discuss all options with you.

How long does it take to receive the results?

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The genetic analysis usually takes two to three weeks after the blood sample has been taken. As soon as the results are available, we will arrange an appointment to discuss them with you as soon as possible.

Does carrier screening guarantee a healthy baby?

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No. Carrier screening significantly reduces the risk of certain recessive hereditary diseases, but cannot rule out all genetic disorders. Even if the results are normal, the usual preventive examinations during pregnancy are still recommended.

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During a personalised initial consultation, we take the time to comprehend your needs and offer informed advice on your available options.

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