The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. The Baumgartels decided to pursue IVF after preconception carrier testing showed they were at risk of having a child with a serious inherited condition. Since carrier screening is a recommended part of preconception and prenatal care, it's sometimes covered by insurance. The cost of carrier screening has declined dramatically in recent years, thanks to advances in technology. A health care provider or genetic counselor can help find out if you are at increased risk of passing on a genetic disorder by obtaining a family health history. Preconception genetic testing—also called carrier screening—is a way for parents to get a glimpse at their own genetic makeup and see what they may pass on to future children. You are at increased risk if . Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. Who should consider preconception carrier screening? Watch Video . Semistructured interviews were conducted with seven of the eight carrier couples. Preconception Screening. PRECONCEPTION CARRIER SCREENING Focusing on Personalised Medicine Preconception carrier screening is an important tool for prospective parents to help them determine their risk of having a child affected with a heritable disease. There is no doubt that knowing your family history can be important when it comes to you and your family’s health. New technological developments in genetics enable efficient testing for carrier state of many recessive conditions simultaneously: expanded carrier screening (ECS). Preconception Carrier Screening > Research project: Expanded Preconception Carrier Screening Currently Active: Yes. Preconception carrier screening can identify individuals or couples at high risk of having a child with a serious heritable disorder. In many cases parents don’t have any idea that they are carriers and have no family history due to the rarity of some diseases in the general population. Preconception carrier screening is an important tool for prospective parents to help them determine their risk of having a child affected with a heritable disease. Do I need carrier screening if there’s no history of inherited conditions in my family? On the other hand, some insurance companies consider the testing optional and don't cover it. This involves asking certain questions about your health and your family’s health. In many cases, parents aren’t aware they are carriers and have no family history due to the rarity of some diseases in the general population. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed by 182 attendees pretesting and posttesting and by 137 non-attendees. These people are carriers of autosomal recessive or X-linked recessive conditions.

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