![]() ![]() The parents may choose to have only embryos that are chromosomally normal transferred into the womb of the mother. PGD can be performed prior to transferring embryos back to the womb to determine which embryos have chromosome imbalances and which have normal chromosomes. IVF involves taking an egg from the mother and fertilizing it with sperm from the father in the laboratory. However, the likelihood of a parent with a translocation having another child with Cri-du-chat syndrome can be reduced if the parents consider in vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). ![]() Prenatal screening and testing for Cri-du-chat syndrome is available starting around the end of the first trimester of pregnancy, at the parents' discretion. If the cause of Cri-du-chat syndrome is due to a translocation (rearrangement of genetic material) in one of the parents, there is no way to impact the chances of recurrence of Cri-du-chat syndrome in a pregnancy conceived naturally. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Depending on the specific chromosome rearrangement in the parent, the risk for recurrence in a future child has been reported to be as high as 20%.įamilies who would like more information about the genetics of Cri-du-chat syndrome, their recurrence risks for Cri-du-chat syndrome in a future pregnancy, and/or a discussion about their reproductive options may benefit from genetic counseling. When a parent carries a chromosome translocation or other rearrangement that may predispose to Cri-du-chat syndrome, the risk of recurrence in a future child may be much higher. When an individual is affected with Cri-du-chat syndrome as a result of a de novo event, the chance that another child in the same family would also have Cri-du-chat syndrome is fairly low (<1%). To determine the chance of recurrence of Cri-du-chat in a subsequent child after a couple has had one child with Cri-du-chat syndrome, it is important to determine if either of the parents carry a chromosome rearrangement such as a translocation which can predispose a chromosome change such as Cri-du-chat syndrome in a child. In the additional approximately 15% of individuals with Cri-du-chat syndrome, a parent, while unaffected with Cri-du-chat syndrome, may have a chromosome rearrangement (translocation) that predisposes the chromosome deletion that causes Cri-du-chat syndrome in the child. In approximately 85% of individuals with Cri-du-chat syndrome, the chromosome deletion occurred as a new event in the formation of the egg or sperm used in the conception of that child (referred to as de novo), as opposed to being inherited from a parent.
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