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Carrier Screening with CentoScreen
Carrier screening can determine if a healthy person carries a genetic disease, identify people at risk of developing a genetic disease, or help assess the risk of a couple passing a genetic disease onto their children.
Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. It provides life-lasting information about an individual`s reproductive risk and their chances of having a child with a genetic disease.
A recessive genetic disease is caused when a mutation is present on both genes of a pair (one gene inherited from the mother and the other from the father). Most people can be carriers of a disease-causing change without knowing it.
If both partners are carriers, they have a 25% risk of having an affected child with a recessive genetic disease and a 50% that the child will be a carrier like the parents.
In an autosomal disorder, if both parents are carriers for the same genetic diseases, there is a 25% chance of having an affected child in each pregnancy.
- There is a 1/4 (25%) chance that the child will be born with an autosomal recessive disorder. The child will have inherited two changed mutated genes, one from each parent
- There is a 1/2 (50%) chance that the child will be a carrier like the parents, but will not have any symptoms. The child will have inherited one normal gene and one mutated gene
- There is a 1/2 (50%) chance that the child will not inherit the defected gene with a change (mutation) from either parent. This child will not be a carrier and will not be affected by the disorder.
Carrier screening done before pregnancy will give you a broader range of options consistent with your values and offer you more time to make an informed decision. CentoScreen is suitable for individuals or couples considering a pregnancy or in early pregnancy and for individuals or couples with the following backgrounds:
In an X-linked recessive disorder, if the mother is a carrier, there is a 25% chance that she will have an affected male child in each pregnancy.
- There is a 1/2 (50%) chance that the child is a male or female who is a healthy with a normal copy of a particular gene
- There is a 1/4 (25%) chance that it is a healthy carrier female child or a mildly affected female child
- There is a 1/4 (25%) chance that it is an affected male with only one mutated copy of the gene
Carrier screening can help partners make informed decisions and choices regarding family planning that are consistent with their values. It can allow couples to:
- Plan their pregnancy via pre-implantation genetic diagnosis (PGD)
- Pursue alternate options such as using a sperm or egg donor or adoption
- Have prenatal diagnosis during pregnancy
- Avail specialist care during pregnancy and delivery if necessary
- Prepare for management and if available, treatment of anaffected child
The screening panel includes a large list of inherited conditions including:
- Fragile x syndrome
- Spinal muscular atrophy
- Alphathalassemia
- Cystic fibrosis