Year 2019, Volume 4, Issue 1, Pages 1 - 6 2019-03-18

Maternal plazmadaki hücre dışı serbest fetal DNA kullanılarak girişimsel olmayan fetal RhD genotiplemesinin tanısal doğruluğu
The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma

Cisem Akurut [1] , Fatma Silan [2] , Sinem Yalcintepe [3] , Ozturk Ozdemir [4]

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Giriş: Rh uyuşmazlığında fetusun RhD genotipinin girişimsel olmayan prenatal tanısı, RhD negatif fetus taşıyan gebelerin hemolitik hastalıklar için artmış anti-D immünoglobulin tedavisinin önlenmesinde önemli bir role sahiptir. Bu çalışmada maternal plazmadaki hücre dışı DNA kullanılarak fetal RhD genotiplemesinin saptanmasının tanısal doğruluğunu tespit etmek amaçlandı.

Yöntem: Rh uyuşmazlığı bulunan farklı gebelik haftalarında (12-40 hafta), D negatif 12 gebeden periferik kan örnekleri toplandı. 2 ml maternal plazma kullanılarak konvansiyonel bir DNA izolasyon tekniği (Qiagen, Hilden, Almanya) ile hücre dışı DNA izole edildi. Real Time PCR tekniği kullanılarak fetal RhD geni ekzon 7, ekzon 10 ve GLO geninin genotiplemesi yapıldı. Postnatal serolojik değerlendirmeler yapılmış ve sonuçlar doğrulanmıştır.

Bulgular:  6 olgu (% 50) D pozitif, 6 olgu (% 50) D negatif olarak belirlendi. Tüm sonuçlar ayrıca serolojik olarak doğumdan sonra doğrulandı.

Sonuç: Sonuç olarak RhD uyuşmazlığı görülen gebelerde girişimsel olmayan bir yöntem olarak maternal plazmadan elde edilen hücre dışı fetal DNA kullanılarak yapılan RhD genotiplemesinin tanısal doğruluğa sahip olduğu gösterildi.

Introduction: The non-invasive prenatal diagnosis of the fetus RhD genotype in RhD incompatibility has a crucial role in the prevention of increased anti-D immunoglobulin therapy for haemolytic diseases in pregnant women carrying RhD negative fetus. It was aimed to detect fetal RhD genotyping by using maternal circulating cell-free DNA in the current study.

Methods: Maternal blood samples were collected in different trimester of pregnancies (12-40 weeks) in 12 D-negative mothers. Cell-free fetal DNA was extracted from 2 ml of maternal plasma by an conventional DNA isolation technique (Qiagen, Hilden, Germany) and real-time PCR was performed for genotyping target RhD exons 7 and 10 and GLO genes. Postnatal serological evaluations were performed and the results were confirmed.

Results: 6 cases (50 %) were determined D positive and 6 cases (50 %) were determined D negative. All results were also confirmed after birth serologically.

Conclusions: In conclusion, the current results showed us the non-invasive target RhD genotyping from cell free fetal DNA from maternal plasma samples have a diagnostic accuracy in RhD incompatibility pregnancies.

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Primary Language en
Subjects Health Care Sciences and Services
Published Date Apr 2019
Journal Section Original Research
Authors

Orcid: 0000-0003-3559-5860
Author: Cisem Akurut
Institution: Trakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
Country: Turkey


Orcid: 0000-0001-7191-2240
Author: Fatma Silan (Primary Author)
Institution: Canakkale Onsekiz Mart University, Faculty of Medicine, Department of Medical Genetics, Canakkale, Turkey
Country: Turkey


Orcid: 0000-0002-8557-8885
Author: Sinem Yalcintepe
Institution: Trakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
Country: Turkey


Orcid: 0000-0003-1057-3235
Author: Ozturk Ozdemir
Institution: Canakkale Onsekiz Mart University, Faculty of Medicine, Department of Medical Genetics, Canakkale, Turkey
Country: Turkey


Bibtex @research article { fppc418647, journal = {FAMILY PRACTICE AND PALLIATIVE CARE}, issn = {2458-8865}, eissn = {2459-1505}, address = {SERNEV}, year = {2019}, volume = {4}, pages = {1 - 6}, doi = {10.22391/fppc.418647}, title = {The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma}, key = {cite}, author = {Akurut, Cisem and Silan, Fatma and Yalcintepe, Sinem and Ozdemir, Ozturk} }
APA Akurut, C , Silan, F , Yalcintepe, S , Ozdemir, O . (2019). The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma. FAMILY PRACTICE AND PALLIATIVE CARE, 4 (1), 1-6. DOI: 10.22391/fppc.418647
MLA Akurut, C , Silan, F , Yalcintepe, S , Ozdemir, O . "The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma". FAMILY PRACTICE AND PALLIATIVE CARE 4 (2019): 1-6 <http://www.fppc.com.tr/issue/43926/418647>
Chicago Akurut, C , Silan, F , Yalcintepe, S , Ozdemir, O . "The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma". FAMILY PRACTICE AND PALLIATIVE CARE 4 (2019): 1-6
RIS TY - JOUR T1 - The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma AU - Cisem Akurut , Fatma Silan , Sinem Yalcintepe , Ozturk Ozdemir Y1 - 2019 PY - 2019 N1 - doi: 10.22391/fppc.418647 DO - 10.22391/fppc.418647 T2 - FAMILY PRACTICE AND PALLIATIVE CARE JF - Journal JO - JOR SP - 1 EP - 6 VL - 4 IS - 1 SN - 2458-8865-2459-1505 M3 - doi: 10.22391/fppc.418647 UR - https://doi.org/10.22391/fppc.418647 Y2 - 2018 ER -
EndNote %0 FAMILY PRACTICE AND PALLIATIVE CARE The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma %A Cisem Akurut , Fatma Silan , Sinem Yalcintepe , Ozturk Ozdemir %T The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma %D 2019 %J FAMILY PRACTICE AND PALLIATIVE CARE %P 2458-8865-2459-1505 %V 4 %N 1 %R doi: 10.22391/fppc.418647 %U 10.22391/fppc.418647
ISNAD Akurut, Cisem , Silan, Fatma , Yalcintepe, Sinem , Ozdemir, Ozturk . "The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma". FAMILY PRACTICE AND PALLIATIVE CARE 4 / 1 (March 2019): 1-6. https://doi.org/10.22391/fppc.418647