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Download Genetic Carrier Screening - Complete Women`s Care Center
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GeneticCarrierScreeningInformation We offer a panel of genetic tests for the most common hereditary recessive diseases which couldpotentiallyaffectyourbaby.AtCWCCwefollowtheguidelinesofTheAmericanCollege ofOb/GYNandtheAmericanCollegeofMedicalGeneticswhorecommendgenetictestingfor ALLpregnantpatientsorthoseplanningpregnancy.Thesearenewrecommendations,andin doingthesetestsyouarestayinguptodatewiththelatestbenefitsthatmedicalsciencehasto offer. Recessive diseases require both parents to carry the affected gene so the disease will frequently skip generations and may appear in families with no known prior family history. There are 11 diseases tested in this panel, the most common being cystic fibrosis, spinal muscularatrophy,fragileX,andTay-Sachsdisease.Thecompletelistisincludedinyourpatient information.Itisimportanttodothesetestsearlybecausebabieswiththesediseaseswillbe severelyaffectedandinsomecasesthediseasewillnotbecompatiblewithlife.Knowingabout this early allows families to plan, seek appropriate care and support, and make informed decisions. Most importantly, finding out that you do NOT carry these genes adds enormous peaceofmindandiscertainlythemostlikelyoutcomeofthetest. These diseases cannot be diagnosed by ultrasound or through any other non-invasive means priortodeliverysinceanaffectedbabywillappeartotallynormal,sometimesevenformonths oryearsafterbirth. All 11 genes can be tested from a single cheek swab sample and the results take about 2-3 weekstobecompleted.Ifyouhaveapositivetestwewillrecommendtestingyourpartnerand thenscheduleyouforaconsultationwithageneticcounselorifbothyouandyourpartnerare positive.Sincethesegenesdonotchangethroughoutyourlifethetestonlyneedstobedone once. Since it is a new test in 2017, we recommend testing even if this is not your first pregnancy.Thankyouforentrustinguswithyourhealthcare!