Newborn Screening

Year 2019, Volume: 11 Issue: 4, 193 - 199, 03.07.2019

Prof. Dr. Fahri Ovalı

Abstract

Abstract

The aim of the National Neonatal Screening Program is to detect diseases that do not have symptoms in the early neonatal program but may lead to severe disabilities if not diagnosed and treated early. If at least 95% of the population is screened, complications due to these diseases may be prevented. Screening for metabolic, endocrinologic and genetic diseases is performed by obtaining capillary blood samples 36-72 hours after birth in every infant. In this way, phenylketonuria, hypothyroidism, biotinidase deficiency and cystic fibrosis may be diagnosed early. On the other hand, every infant undergoes hearing screening by automated brainstem reflexes and referred to an appropriate center if needed. Although it is not compulsory, screening for congenital heart disease may be performed by an non-invazive, cheap and effective method. Infants are evaluated for developmental hip dysplasia before discharge and screening is performed by hip ultrasonography at 3-6 weeks. Red reflex test is a part of physical examination of the newborn and may give clues for cataracts, corneal opacities, retinablostoma and retinal detachment.

Keywords

Newborn screening, metabolic diseases, congenital heartdisease, hearing screening

Yenidoğan Taramaları

Abstract

Öz

Ulusal yenidoğan tarama programı (UYTP) ile yenidoğan döneminde klinik bulgu vermeyen ancak tanıda gecikildiğinde ciddi morbidite ve mortaliteye yol açan hastalıkların erken tanınıp, tedavisine başlanabilmesi için popülasyonun en az %95’inin taranması ve bu şekilde komplikasyonların önüne geçilmesi hedeflenmektedir. Metabolik, endokrinolojik veya genetik bozuklukların tanınması için postnatal 36-72. saatte her bebekten kapiller kuru kan ile hipotiroidi, feniketonüri (FKU), biyotidinaz eksikliği ve kistik fibroz (KF) taraması yapılmaktadır. Ülkemizde taburculuk öncesi her bebeğe uyarılmış beyin sapı cevabı (ABR)  ile  işitme taraması yapılmakta ve gereklilik durumunda bir referans merkeze yönlendirilmektedir. Yenidoğan tarama programına henüz da-hil olmasa da, basit ve noninvaziv bir yöntemle uygulanabilen, maliyeti düşük ve etkin bir tarama yöntemi olan nabız oksimetri ile kritik konjenital kalp hastalığı (KKKH) taraması da giderek artan sıklıkla uygulanmaktadır. Gelişimsel kalça displazisinin (GKD) erken tanı ve tedavisi için bebekler taburculuk öncesi muayene ile değerlendirilmekte, takiben kalça ultrasonografisi (USG) ve ortopedist muayenesi için ilk 3-6 hafta içinde yönlendirilmektedir.  Kırmızı refle testi yenidoğan muayenesinin zorunlu bir parçası olup görme aksında yer alabilecek katarakt, korneal opasite, retinablastom ve retina dekolmanı da dahil pek çok patolojinin belirlenmesinde kullanılır.

Keywords

Yenidoğan tarama, metabolikhastalıklar, konjenital kalphastalığı, işitme taraması

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