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Genetic Carrier Screening

How common are genetic disorders

According to the World Health Organization (WHO), the prevalence of autosomal recessive disorders is 10 in 1000 in newborn infants. These diseases represent 20% of the causes of infant mortality in developed countries, and they are behind 18% of the interventions in paediatric hospitals. 82% of couples who give birth to a child with an autosomal recessive disease do not know that they are the carriers of the genetic mutation. The uncertainty regarding carrying of the genetic abnormality means that the gene can be transmitted for several generations without causing disease. It is only when two individuals carrying the same genetic abnormality have a child together that it might be expressed as a disease.

Genetic Carrier Screening-indications

Genetic carrier screening is offered when genetic mapping and testing is indicated, which might be before a fertility treatment, when carriership of a specific genetic disease is suspected or it might be carried out in connection with repeated miscarriages. A genetic carrier screening test can also be used for anyone who wants to avoid transmitting one or more genetic diseases to their future children. If a  potential carrier of a genetic disease is found when analysing a genetic carrier screening test, guidance and suggestions for optimized or specified fertility treatment are provided.

What is a gene and which genetic mutations are analysed?

Each individual carries two sets of allels; one from each parent. These genetic predispositions are made up of genes that encode vital proteins. Normally, one of the two inherited copies of a gene is sufficient to function properly. If a child inherits double defective copies of the same gene, it loses the ability to produce a functional protein, with disease as a result. With a carrier genetic test, one, or more genetic anomalies can be analysed, and the choice of analysis is made in consultation with the individual or the couple. The most common diseases identified are Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X Syndrome, Sickle Cell Anaemia, Thalassaemia, and Polycystic Disease of the Kidneys. 

Procedures for analysis of a Genetic Carrier Screening test

1. Consultation with a physician at the clinic is planned; information and advice is given.
2. Blood samples are collected.
3. The genetic analysis is performed.
4. Answers to the analysis are obtained, evaluation including a final conclusion is carried out, and a report is created.

How is a negative result interpreted?

A negative test result indicates that the person tested is not a carrier of the gene changes under investigation. However, no test is absolutely perfect and a small risk of carrying might still exist.

How is a positive result interpreted?

A positive test result indicates that the person tested may carry a gene that might lead to the development of the specific genetic disease under investigation. There is therfore a risk that a future child may be born with the disease. If a person is identified as a carrier, it is appropriate that the partner is also checked, given that this has not been done from the beginning. If both individuals in a couple intending to have children together are carriers of the gene for the disease, this means that the risk is 1 in 4, i.e. 25%, that their child will be born with the disease.

What if both are carriers?

If a genetic carrier test shows there is a risk of transmitting a genetic disease to a future child, various strategies can be used to avoid transmission of the disease. Consultations with doctors and clinical geneticists are recommended before decisions are made.
1: Fertility treatment using IVF where pre-implantation genetic diagnostic producers (PGD or PGT-M) are performed on the embryo prior to transfer; embryos carrying the genetic disorder are thus not chosen.
2: Fertility treatment with donated eggs or sperm. The donor has then been investigated in the same way and is not a carrier.
3: Adoption of a child.

Analysis including genetic carrier screening should be seen as a complement and all genetic testing is completely voluntary.

Prices for analysis of Genetic Carrier Screening

-Genetic testing for a specific gene -8000SEK
For example Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), Fragile X-Syndrome or Thalassaemia

-Genetic Carrier testing, panel for analysis of different genetic diseases, CGT Plus -14500SEK
519 female genes and 455 male genes

-Karyotype testing (chromosome analysis) 8000SEK

If additional counselling and continued guidance is needed after completion of the analysis and results review, a new appointment is booked; 1500 SEK.

Welcome to contact us!
+46 (0)18-12 80 17

GynHälsan Fertility Clinic
Kålsängsgränd 10 d, 3rd floor
SE-753 19 Uppsala
+46 (0)18-12 80 17 
The clinic is centrally located near Uppsala's Central Station