Genetic Screening at ICRM
Genetic carrier screening can be a vital step in understanding your reproductive health. It involves testing for changes in DNA—the genetic blueprint responsible for who we are—that can potentially be passed on to your future children. This typically involves a simple blood draw or cheek swab, which is then analyzed for specific mutations associated with genetic disorders..
Screening is usually performed on both partners in a couple planning to conceive. While humans have over 30,000 genes, most people carry two copies of each gene. In some cases, a mutation in a single copy of a gene, or both partners being carriers of the same mutation, can increase the risk of passing on a genetic disorder. Our team at ICRM is here to guide you through genetic screening and testing options, empowering you to make the right choice for your family.
Why is Carrier Screening Important?
Carrier screening helps identify whether you are a carrier for specific genetic conditions. If both partners are carriers of an autosomal recessive disorder—conditions that require both affected copies of a gene to cause disease, like cystic fibrosis—there is a 25% chance with each pregnancy of having a child affected by the condition. Knowing this information allows you to explore your options early and make informed decisions about your family planning.
Pre-Genetic Testing of Embryos (PGT-M)
When genetic screening indicates a risk of passing on a disorder, Pre-Implantation Genetic Testing (PGT-M) offers a way to prevent transmission. This process involves biopsying 5-10 cells of embryos at the blastocyst stage (around days 5-6 of development) to analyze their genetic makeup and determine if the embryo is 23 chromosome competent. The cells that are biopsied are those that make up the placenta, not the cells that contribute to the fetus; PGT-M is not regarded as detrimental to the embryo.
Based on results, embryos can then be preferentially selected for transfer, thereby reducing the likelihood of producing affected offspring. This testing is performed on a small number of cells and does not harm the embryo, making it a safe and effective option in many cases.
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