AI Summary & Key Takeaways
AI InsightIn this study, we aimed to emphasize the significance on genetic consultation of knowing demographic distribution according to geographical characteristics of our country, and being aware that a population, which is diverse in terms of sociocultural aspects in particular due to the cosmopolite nature of metropolitan cities such as Istanbul, gets service.
📌 3 Key Takeaways
Abstract
Objective: The most frequent goal for prenatal diagnosis is to detect pregnancies with Down syndrome. Since karyotyping, which is the golden standard for the diagnosis, has not been replaced with a non-invasive method, pregnant women in the risk group should choose the method such as CVS and amniocentesis. Therefore, screening tests are performed by non-invasive method, and pregnant women under risk are provided genetic consultation and the family is expected to make a decision for invasive procedure. Methods: One thousand pregnant women who were at second trimester, provided genetic consultation in a reference center offering Perinatology and Medical Genetics clinical services, who were candidate for chromosomal analysis, but only had increased risk in biochemical screening or due to advanced maternal age were included in the study. The requests of partners, who were accompanying during genetic consultation, of the pregnant women who approved the procedure, invasive procedure decision and the factors affecting this decision were listed. Results: We observed that the pregnant women came for genetic consultation with an accompanying individual as the pregnant women felt that they were in a stressful environment when they came for genetic consultation. More than half of the pregnant women (52.1%) shared their decision right after genetic consultation. Almost two third of the pregnant women (63%) stated that they decided to undergo amniocentesis. The factors affecting this decision are the worthiness of pregnancy in terms of the family and potential risks of invasive procedure in general. Conclusion: Genetic consultation is one of the most important tools of patient-doctor relationship. It is very effective thanks to its informative nature especially for making a decision for invasive procedure in pregnant women and deciding for the progression of pregnancy upon invasive test results. In this study, we aimed to emphasize the significance on genetic consultation of knowing demographic distribution according to geographical characteristics of our country, and being aware that a population, which is diverse in terms of sociocultural aspects in particular due to the cosmopolite nature of metropolitan cities such as Istanbul, gets service.
Özet
Amaç: Do¤um öncesi tan›da günümüzde en s›k amaçlanan hedef Down sendromlu gebelikleri tespit etmektir. Tan›da alt›n standart yöntem olan karyotiplemenin yerini henüz non-invaziv bir yöntem dolduramad›¤›ndan, CVS, amniyosentez gibi bir yöntem için risk alt›ndaki gebelerin seçimi gereklidir. Bu amaçla giriflimsel olmayan yöntemlerle tarama testleri yap›lmakta, riskli gebelere genetik dan›flma verilerek invaziv giriflim karar› aileye b›rak›lmaktad›r. Yöntem: Perinataloji ve T›bbi Genetik klinik hizmetine sahip bir referans merkezde genetik dan›flma verilen, kromozom analizi aday›; ancak sadece ileri anne yafl› ya da biyokimyasal taramada artm›fl riski olan, 1000 adet ikinci üç ay gebesi çal›flmaya dahil edildi. Onay veren gebelerin genetik dan›flma ald›klar› s›rada not al›nan efllik eden birey iste¤i, invaziv giriflim karar›, bu karar› almas›nda etkili olan faktörler s›raland›. Bulgular: Gebelerin genetik dan›flma almaya geldiklerinde bir stres ortam›na giriyor hissine sahip olmalar› nedeniyle, efllik eden biriyle genetik dan›flma almay› tercih ettikleri görüldü. Gebelerin yar›s›ndan fazlas› (%52.1) genetik dan›flma ald›ktan sonra karar›- n› paylaflt›. Gebelerin neredeyse üçte ikisi (%63) amniyosentez yapt›rma karar› ald›¤›n› bildirdi. Bu karar› etkileyen faktörlerin da¤›l›m› da genel olarak gebeli¤in aile aç›s›ndan k›ymeti ve invaziv giriflimin olas› riskleri fleklinde s›ralanabilir. Sonuç: Genetik dan›flma t›bbi geneti¤in en önemli hasta hekim iliflkisi araçlar›ndan biridir. Özellikle gebelerde invaziv giriflim karar› almada ve invaziv test sonuçlar›yla birlikte gebeli¤in ilerlemesi konusunda karar vermede, bilgilendirici özelli¤i sayesinde çok etkili olmaktad›r. Bu çal›flmada ülkemizin co¤rafi özelliklere göre demografik da¤›l›m›n› bilmenin, ‹stanbul gibi büyük flehirlerde ise kozmopolit yap› nedeniyle, özellikle sosyokültürel aç›dan çeflitlilik arz eden bir nüfusun hizmet ald›¤›n›n fark›nda olman›n, genetik dan›flmadaki önemini vurgulamaya çal›flt›k.