Carrier Screening

A carrier screening is useful for all couples planning to conceive, regardless of whether genetic diseases are known in the family. Statistically, every person carries on average two to three recessive gene mutations without knowing it. Our doctors will advise you whether the test is recommended in your situation.

No. Our panel analyses 90 clinically relevant genes associated with more than 130 serious recessive and X-linked diseases, including cystic fibrosis, spinal muscular atrophy, haemophilia, and cancer predispositions such as BRCA1/2. Rare or previously unknown mutations cannot be detected.

Many recessive hereditary diseases are more common than most people assume. A few examples from our panel: - Cystic fibrosis (CFTR): approximately 1 in 25 people of European descent is a carrier. Affected children develop chronic lung and digestive diseases. - Spinal muscular atrophy / SMA (SMN1): approximately 1 in 40 to 50 people of European descent is a carrier. SMA leads to progressive muscle weakness, often beginning in infancy. - Beta-thalassemia and sickle cell anaemia (HBB): up to 1 in 10 people with roots in the Mediterranean, the Middle East, or Africa is a carrier. Both diseases cause severe chronic anaemias. - Hereditary breast and ovarian cancer risk (BRCA1/2): approximately 1 in 400 people in general, and about 1 in 40 in people of Ashkenazi Jewish descent. Carriers have a significantly elevated lifetime cancer risk. - Fragile X syndrome (FMR1): approximately 1 in 200 women is a carrier. It is the most common inherited cause of intellectual disability in boys.

Yes. Our panel includes key genes for familial cancer predispositions, including BRCA1 and BRCA2 (increased risk of breast, ovarian and pancreatic cancer), MLH1, MSH2, MSH6 and PMS2 (Lynch syndrome with elevated colorectal cancer risk), as well as further genes such as PALB2, MUTYH or VHL. This allows us to identify hereditary cancer risks early and incorporate them into your family planning.

At Cada, we use Whole Exome Sequencing, a modern method from the Next Generation Sequencing (NGS) family of technologies. 90 clinically relevant genes are analysed with high precision. The evaluation is carried out in close collaboration with our partner laboratory Genetica.

Yes. Only the combination of both partners' genetic variants shows whether there is a risk for the child. We therefore analyse blood samples from both partners.

No. The carrier screening is based on a simple blood draw, comparable to a standard blood test.

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

Results are typically available four weeks after the blood sample is taken. As soon as they are available, we will schedule an appointment to discuss them with you.

Your blood samples and genetic data are used exclusively for the agreed analysis. The evaluation is carried out in certified laboratories in compliance with Swiss data protection regulations. Your data will not be passed on to third parties or used for research purposes unless you explicitly consent to it.

No. A carrier screening significantly reduces the risk of certain recessive hereditary diseases but cannot exclude all genetic conditions. Even with an unremarkable result, the standard prenatal examinations are still recommended during pregnancy.