Cost Evaluation of Fetal Rhesus D Genotyping by Real-time PCR from cell-free Fetal DNA

Abstract

The detection of cell-free fetal DNA (cffDNA) from maternal plas-ma has enabled the development of essential prenatal diagnostic techniques supporting the non-invasive screening and diagnostic tests in recent years.We performed a non-invasive real-time polymerase chain reac-tion (PCR) using cell-free DNA isolated from the peripheral blood of pregnant women to determine fetal Rhesus D (RhD) and sex. Consistent with the findings of similar studies, our results revealed high accuracy rates of PCR in determining fetal RhD, making it suitable for diagnostic use, thereby indicating its effectiveness as a guide in treating and especially in minimizing the procedures ap-plied to pregnant women who are RhD negative.This study compared the cost incurred between follow-up testing and treatment of RhD (-) pregnant women and the fetal RHD geno-typing based on Health Implementation Notification (SUT) data of the Social Security Administration of the Republic of Turkey. Addi-tionally, the role of PCR to the diagnostic process was evaluated.Our results showed that fetal RHD genotyping costs 523.19 TL (3.5 times) less for each RhD (-) pregnant women compared with the current additional tests and treatments. PCR with cffDNA is an innovative method that minimizes workload, hospital costs, and unnecessary tests and treatment. In addition, this method allows an early initiation of treatment and avoidance of unnecessary in-tervention and cost.

Keywords

• Fetal cell-free DNA
• RHD
• genotyping
• cost analysis

Hücre-dışı Fetal DNA‘dan Gerçek-zamanlı PZR ile Fetal Rhesus D tespitinin Maliyet Değerlendirmesi

Abstract

Maternal plazmadan hücre-dışı fetal DNA'nın (hdfDNA) tespitinde son yıllarda elde edilen başarılar, hamilelik süresince uygulanabilir, invazif olmayan tarama ve tanı testlerini destekleyen temel teknik-lerin gelişmesine olanak sağlamıştır. Yakın zamanda yaptığımız bir çalışmada, invazif işlem gerektirmeden gebelerden alınan periferik kandan hücre-dışı DNA izole edilerek, gerçek zamanlı polimeraz zincir reaksiyonu (PZR) yöntemiyle fetal Rhesus D (RhD) ve cinsi-yet belirlenmesi gerçekleştirilmiştir. Bu ve benzeri çalışmalar neti-cesinde, kullanılan tekniğin fetal RhD tayininde yüksek doğruluk oranlarına sahip olduğu ve tanı amaçlı kullanıma uygun olduğu gösterilmiştir. Tanıda elde edilen bu başarı, özellikle RhD negatif (-) gebelere uygulanan işlemleri en aza indirilerek tedavide yol gös-tericidir. Bu bağlamda, sunduğumuz bu çalışmada Türkiye Cum-huriyeti, Sosyal Güvenlik Kurumu, Sağlık Uygulama Tebliği (SUT) verileri referans alınarak, günümüzde RhD (-) gebelere uygulanan ek izlem testlerin ve tedavinin oluşturduğu maliyet ile fetal RHD ge-notiplemesi sonucu ortaya çıkan maliyetin kıyaslaması gerçekleşti-rilmiştir. Ayrıca, böyle bir yaklaşımın hastalık tanı sürecine yapmış olduğu destek değerlendirilmiştir.Sonuç olarak, her RhD (-) gebe için, gerçek zamanlı PZR uygula-narak fetal RHD genotiplesi ile hali hazırda kullanılan ek tetkik ve tedaviler kıyaslandığında, 523,19 TL (3,5 kat) daha az maliyetli ol-duğu gösterilmiştir. Bu testin, iş yoğunluğu, hastane maliyetleri ve hastaya uygulanan gereksiz tedavilerin azalması yönünde yenilikçi bir yöntem olduğu görülmektedir. Ayrıca, bu ve benzeri yaklaşım-lar, erken tedavinin başlatılması ve gereksiz müdahale ve maliyet-ten kaçınılmasına olanak sağlayacaktır.

Keywords

• Hücre dışı fetal DNA
• genotipleme
• maliyet analizi

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