The Beacon expanded carrier screen looks for variations in many of the genes that cause serious genetic conditions affecting babies and children. However, some women who are carriers of an X-linked condition can show signs of the condition, despite having a second normal X chromosome. The presence of one normal copy of the gene is sufficient to keep a carrier healthy. Carriers are, however, able to pass that mutation on to their children, who may then develop a genetic condition.Ĭarriers are usually not affected. What is a carrier?Ī carrier is a person who has a genetic change, or mutation, in their DNA, but in most cases does not have any associated health problems. If a couple is shown to be at increased risk of having an affected child, they can make an informed choice to accept that risk or consider a range of reproductive options such as IVF and prenatal testing to reduce that risk. We can examine the genes of a couple to see if they are a carrier and at increased risk of having an affected child before a woman becomes pregnant (preconception) or in early pregnancy. In the past, the only clue that a healthy person was a carrier had been the diagnosis of a genetic condition in their child. The chromosomes are made of DNA, the chemical that encodes the genes in every cell of your body. We all have two copies of most chromosomes, and each parent passes one copy of each chromosome to their child.
The decision to have this test is entirely your choice. This comprehensive screen can detect one in 20 couples at high risk of having an affected child.
The Beacon expanded reproductive carrier screen tests more than 400 genes to identify if you are a carrier of a genetic condition that could affect your baby. What does reproductive carrier screening test for?
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