CURRENT PRENATAL SCREENING TEST: Cell Free Fetal DNA Analysis

Öz

Prenatal tarama testlerinin kullanımı 1970’li yıllarda maternal yaşın değerlendirilmesiyle başlamış; bu serüven maternal yaş, fetal ense kalınlığı ve maternal serum markerlarının kombinasyonlu kullanımıyla devam etmiştir. Aradan geçen 50 yılın ardından prenatal tarama testlerinin geldiği son nokta ise maternal kanda hücreden serbest DNA (cfDNA)’nın analizi olmuştur. Günümüzde hala geleneksel tarama testleri rutin olarak uygulanmasına rağmen cfDNA analizi özellikle yaygın anöploidilerin saptanmasında yüksek başarı göstermekte, hatta trizomi 21 için en güvenilir test olarak değerlendirilmektedir. Yine de bu başarısını genel popülasyonda ve tüm anomalilerin taranmasında koruyamaması cfDNA’yı rutin tarama olarak kullanım dışı bırakmaktadır. cfDNA sonucunu etkileyen faktörlerin varlığı ve düşük dahi olsa yalancı pozitiflik değerinin bulunması cfDNA’nın pozitif sonuç durumlarında invaziv testlerle onaylanmasını zorunlu kılmaktadır. Bu nedenle hala hangi popülasyonda uygulanabileceği tartışması güncelliğini korumaktadır. Bu derlemenin amacı; cfDNA ile ilgili güncel literatür bilgisini paylaşmaktır.

Anahtar Kelimeler

• Hücreden serbest DNA
• cfDNA
• non invaziv prenatal test
• anöploidi

Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi

Öz

Prenatal tarama testlerinin kullanımı 1970’li yıllarda maternal yaşın değerlendirilmesiyle başlamış; bu serüven maternal yaş, fetal ense kalınlığı ve maternal serum markerlarının kombinasyonlu kullanımıyla devam etmiştir. Aradan geçen 50 yılın ardından prenatal tarama testlerinin geldiği son nokta ise maternal kanda hücreden serbest DNA (cfDNA)’nın analizi olmuştur. Günümüzde hala geleneksel tarama testleri rutin olarak uygulanmasına rağmen cfDNA analizi özellikle yaygın anöploidilerin saptanmasında yüksek başarı göstermekte, hatta trizomi 21 için en güvenilir test olarak değerlendirilmektedir. Yine de bu başarısını genel popülasyonda ve tüm anomalilerin taranmasında koruyamaması cfDNA’yı rutin tarama olarak kullanım dışı bırakmaktadır. cfDNA sonucunu etkileyen faktörlerin varlığı ve düşük dahi olsa yalancı pozitiflik değerinin bulunması cfDNA’nın pozitif sonuç durumlarında invaziv testlerle onaylanmasını zorunlu kılmaktadır. Bu nedenle hala hangi popülasyonda uygulanabileceği tartışması güncelliğini korumaktadır. Bu derlemenin amacı; cfDNA ile ilgili güncel literatür bilgisini paylaşmaktır.

Anahtar Kelimeler

• Hücreden serbest DNA
• cfDNA
• non invaziv prenatal test
• anöploidi

Kaynakça

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