Klinikgenetik
Prenatal test, anne adayının doğumdan önce bebeğinde bulunabilecek genetik problemleri öğrenebilmesini sağlayan testtir.
Anne kanından fetal DNA’lar taranarak fetal kromozomal anöploidileri ve mikrodelesyon/duplikasyonları tespit eder. NIPT yeni Hedeflenen Zenginleştirme Teknolojisini kullanarak fetal fraksiyonun yanı sıra anöploidi tespitini benzersiz doğrulukla mümkün kılar.
Hedeflenen bölgeler, seçilen kromozomlar ve kromozomal bölgeler yakalanır, anöploidi tespiti için Biyoinformatik teknolojiler ve analiz edilmiş tescilli genomik mikrodelesyonlar kullanılır.
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Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.
Information about Trisomy 18…
Information about Trisomy 13…
Information about Monosomy X…
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