Abstract
Ushbu maqolada prenatal diagnostika va genetik skriningning zamonaviy tibbiyotdagi o‘rni, irsiy va xromosomal kasalliklarni erta aniqlashdagi samaradorligi hamda reproduktiv salomatlikni yaxshilashdagi ahamiyati tahlil qilindi. Tadqiqotda invaziv va noinvaziv prenatal diagnostika usullarining afzalliklari, ularning aniqlik darajasi, xavflilik ko‘rsatkichlari hamda klinik qo‘llanish sohalari ilmiy jihatdan yoritildi. Shuningdek, ultratovush tekshiruvi, bioximik skrining va NIPT kabi molekulyar-genetik testlarning xromosomal anomaliyalar (Daun sindromi, Edvards, Patau)ni aniqlashdagi diagnostik qiymati tahlil qilindi. Olingan maʼlumotlar prenatal skriningning tug‘ma kasalliklarning oldini olishda, homila rivojlanishini kompleks baholashda va perinatal xavflarni kamaytirishda muhim ahamiyatga ega ekanini ko‘rsatadi.
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