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Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi

Yıl 2021, Cilt: 7 Sayı: 1, 71 - 84, 31.03.2021

Elif Doğan Hüsniye Dinç

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

Destekleyen Kurum

YOK

Proje Numarası

YOK

Kaynakça

  • American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics (2012). Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstetrics and Gynecology, 120(6), 1532–1534. https://doi.org/10.1097/01.AOG.0000423819.85283.f4
  • American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics & Society for Maternal Fetal Medicine (SMFM). (2016). Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstetrics and gynecology, 127(5), e123–e137. https://doi.org/10.1097/AOG.0000000000001406
  • Benn, P., Borrell, A., Chiu, R. W., Cuckle, H., Dugoff, L., Faas, B. … Yaron, Y. (2015). Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenatal Diagnosis, 35(8), 725–734. https://doi.org/10.1002/pd.4608
  • Benn, P., Valenti, E., Shah, S., Martin, K., & Demko, Z. (2018). Factors Associated With Informative Redraw After an Initial No Result in Noninvasive Prenatal Testing. Obstetrics and Gynecology, 132(2), 428–435. https://doi.org/10.1097/AOG.0000000000002728
  • Bianchi, D. W., Chudova, D., Sehnert, A. J., Bhatt, S., Murray, K., Prosen, T. L. … Halks-Miller, M. (2015). Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA, 314(2), 162–169. https://doi.org/10.1001/jama.2015.7120
  • Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C., Das, A. F. … CARE Study Group (2014). DNA sequencing versus standard prenatal aneuploidy screening. The New England Journal of Medicine, 370(9), 799–808. https://doi.org/10.1056/NEJMoa1311037
  • Burns, W., Koelper, N., Barberio, A., Deagostino-Kelly, M., Mennuti, M., Sammel, M. D., & Dugoff, L. (2017). The association between anticoagulation therapy, maternal characteristics, and a failed cfDNA test due to a low fetal fraction. Prenatal Diagnosis, 37(11), 1125–1129. https://doi.org/10.1002/pd.5152
  • Cheng, S. B., Davis, S., & Sharma, S. (2018). Maternal-fetal cross talk through cell-free fetal DNA, telomere shortening, microchimerism, and inflammation. American Journal of Reproductive Immunology (New York, N.Y. : 1989), 79(5), e12851. https://doi.org/10.1111/aji.12851
  • Contro, E., Bernabini, D., & Farina, A. (2017). Cell-Free Fetal DNA for the Prediction of Pre-Eclampsia at the First and Second Trimesters: A Systematic Review and Meta-Analysis. Molecular Diagnosis & Therapy, 21(2), 125–135. https://doi.org/10.1007/s40291-016-0245-9
  • Cotarelo-Pérez, C., Oancea-Ionescu, R., Asenjo-de-la-Fuente, E., Ortega-de-Heredia, D., Soler-Ruiz, P., Coronado-Martín, P., & Fenollar-Cortés, M. (2019). A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening. European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 1, 100002. https://doi.org/10.1016/j.eurox.2019.100002
  • Curnow, K. J., Wilkins-Haug, L., Ryan, A., Kırkızlar, E., Stosic, M., Hall, M. P. … Gross, S. J. (2015). Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. American Journal of Obstetrics and Gynecology, 212(1), 79.e1–79.e799. https://doi.org/10.1016/j.ajog.2014.10.012
  • Gerson, K. D., Truong, S., Haviland, M. J., O'Brien, B. M., Hacker, M. R., & Spiel, M. H. (2019). Low fetal fraction of cell-free DNA predicts placental dysfunction and hypertensive disease in pregnancy. Pregnancy Hypertension, 16, 148–153. https://doi.org/10.1016/j.preghy.2019.04.002
  • Gil, M. M., Accurti, V., Santacruz, B., Plana, M. N., & Nicolaides, K. H. (2017). Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology: The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 50(3), 302–314. https://doi.org/10.1002/uog.17484
  • Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015). Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology : The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 45(3), 249–266. https://doi.org/10.1002/uog.14791
  • Goldwaser, T., & Klugman, S. (2018). Cell-free DNA for the detection of fetal aneuploidy. Fertility and Sterility, 109(2), 195–200. https://doi.org/10.1016/j.fertnstert.2017.12.019
  • Gregg, A. R., Skotko, B. G., Benkendorf, J. L., Monaghan, K. G., Bajaj, K., Best, R. G. … Watson, M. S. (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine : Official Journal of The American College of Medical Genetics, 18(10), 1056–1065. https://doi.org/10.1038/gim.2016.97
  • Hartwig, T. S., Ambye, L., Werge, L., Weiergang, M. K., Nørgaard, P., Sørensen, S., & Jørgensen, F. S. (2018). Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 226, 35–39. https://doi.org/10.1016/j.ejogrb.2018.04.042
  • Herrera, C. A., Stoerker, J., Carlquist, J., Stoddard, G. J., Jackson, M., Esplin, S., & Rose, N. C. (2017). Cell-free DNA, inflammation, and the initiation of spontaneous term labor. American Journal of Obstetrics and Gynecology, 217(5), 583.e1–583.e8. https://doi.org/10.1016/j.ajog.2017.05.027
  • Hui, L. (2016). Noninvasive prenatal testing for aneuploidy using cell-free DNA - New implications for maternal health. Obstetric Medicine, 9(4), 148–152. https://doi.org/10.1177/1753495X16652007
  • Jain, M., Balatsky, A. V., Revina, D. B., & Samokhodskaya, L. M. (2019). Direct comparison of QIAamp DSP Virus Kit and QIAamp Circulating Nucleic Acid Kit regarding cell-free fetal DNA isolation from maternal peripheral blood. Molecular and Cellular Probes, 43, 13–19. https://doi.org/10.1016/j.mcp.2018.12.006
  • Kageleiry, A., Samuelson, D., Duh, M. S., Lefebvre, P., Campbell, J., & Skotko, B. G. (2017). Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome. American Journal of Medical Genetics. Part A, 173(3), 627–637. https://doi.org/10.1002/ajmg.a.38050
  • Kazachkova, N., Gontar, J., Verlinsky, O., & Ilyin, I. (2019). Successful early fetal sex determination using cell-free fetal DNA isolated from maternal capillary blood: A pilot study. European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 3, 100038. https://doi.org/10.1016/j.eurox.2019.100038
  • Li, W. H., Wang, P. H., Chuang, C. M., Chang, Y. W., Yang, M. J., Chen, C. Y. … Yen, M. S. (2015). Noninvasive prenatal testing for fetal trisomy in a mixed risk factors pregnancy population. Taiwanese Journal of Obstetrics & Gynecology, 54(2), 122–125. https://doi.org/10.1016/j.tjog.2015.02.001
  • Lo, Y. M., Corbetta, N., Chamberlain, P. F., Rai, V., Sargent, I. L., Redman, C. W., & Wainscoat, J. S. (1997). Presence of fetal DNA in maternal plasma and serum. Lancet (London, England), 350(9076), 485–487. https://doi.org/10.1016/S0140-6736(97)02174-0
  • Lund, I., Becher, N., Christensen, R., Petersen, O. B., Steffensen, E. H., Vestergaard, E. M., & Vogel, I. (2020). Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism. Prenatal Diagnosis, 40(2), 244–259. https://doi.org/10.1002/pd.5584
  • Manotaya, S., Xu, H., Uerpairojkit, B., Chen, F., Charoenvidhya, D., Liu, H. … Jiang, H. (2016). Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies. Prenatal Diagnosis, 36(3), 224–231. https://doi.org/10.1002/pd.4775
  • McKanna, T., Ryan, A., Krinshpun, S., Kareht, S., Marchand, K., Grabarits, C. … Benn, P. (2019). Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell-free fetal DNA. Ultrasound in Obstetrics & Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 53(1), 73–79. https://doi.org/10.1002/uog.19176
  • Nicolaides, K. H. (2011). Screening for fetal aneuploidies at 11 to 13 weeks. Prenatal Diagnosis, 31(1), 7–15. https://doi.org/10.1002/pd.2637
  • Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H. … Wapner, R. J. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. The New England Journal of Medicine, 372(17), 1589–1597. https://doi.org/10.1056/NEJMoa1407349
  • Osborne, C. M., Hardisty, E., Devers, P., Kaiser-Rogers, K., Hayden, M. A., Goodnight, W., & Vora, N. L. (2013). Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenatal Diagnosis, 33(6), 609–611. https://doi.org/10.1002/pd.4100
  • Palka, C., Guanciali-Franchi, P., Morizio, E., Alfonsi, M., Papponetti, M., Sabbatinelli, G. … Benn, P. (2019). Non-invasive prenatal screening: A 20-year experience in Italy. European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 3, 100050. https://doi.org/10.1016/j.eurox.2019.100050
  • Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., van den Boom, D., Ehrich, M., Deciu, C. … Haddow, J. E. (2015). Circulating cell free DNA testing: are some test failures informative?. Prenatal Diagnosis, 35(3), 289–293. https://doi.org/10.1002/pd.4541
  • Pös, O., Budiš, J., & Szemes, T. (2019). Recent trends in prenatal genetic screening and testing. F1000Research, 8, F1000 Faculty Rev-764. https://doi.org/10.12688/f1000research.16837.1
  • Qiao, L., Yu, B., Liang, Y., Zhang, C., Wu, X., Xue, Y. … Wang, T. (2019). Sequencing shorter cfDNA fragments improves the fetal DNA fraction in noninvasive prenatal testing. American Journal of Obstetrics and Gynecology, 221(4), 345.e1–345.e11. https://doi.org/10.1016/j.ajog.2019.05.023
  • Ren, Y., Zhao, J., Li, R., Xie, Y., Jiang, S., Zhou, H. … Lu, Y. (2018). Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration. Prenatal Diagnosis, 38(11), 821–828. https://doi.org/10.1002/pd.5334
  • Renga, B. (2018). Non invasive prenatal diagnosis of fetal aneuploidy using cell free fetal DNA. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 225, 5–8. https://doi.org/10.1016/j.ejogrb.2018.03.033
  • Revello, R., Sarno, L., Ispas, A., Akolekar, R., & Nicolaides, K. H. (2016). Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result. Ultrasound in Obstetrics & Gynecology: The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 47(6), 698–704. https://doi.org/10.1002/uog.15851
  • Rolnik, D. L., da Silva Costa, F., Lee, T. J., Schmid, M., & McLennan, A. C. (2018). Association between fetal fraction on cell-free DNA testing and first-trimester markers for pre-eclampsia. Ultrasound in Obstetrics & Gynecology : The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 52(6), 722–727. https://doi.org/10.1002/uog.18993
  • Royal College of Obstetricians and Gynaecologists (RCOG). (2014). Scientific Impact Paper No. 15: Non-invasive Prenatal Testing for Chromosomal Abnormality Using Maternal Plasma DNA. Obstet Gynecol, 16: 148-148. https://doi.org/10.1111/tog.12099
  • Salomon, L. J., Alfirevic, Z., Audibert, F., Kagan, K. O., Paladini, D., Yeo, G. … ISUOG Clinical Standards Committee (2014). ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasound in Obstetrics & Gynecology : the Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 44(1), 122–123. https://doi.org/10.1002/uog.13393
  • Sieroszewski, P., Wielgos, M., Radowicki, S., Sasiadek, M., Borowiec, M., Borowski, D. … Moczulska, H. (2017). Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 214, 190–191. https://doi.org/10.1016/j.ejogrb.2017.05.009
  • Society for Maternal-Fetal Medicine (SMFM) Publications Committee. (2015). #36: Prenatal aneuploidy screening using cell-free DNA. American Journal of Obstetrics and Gynecology, 212(6), 711–716. https://doi.org/10.1016/j.ajog.2015.03.043
  • Suzumori, N., Sekizawa, A., Ebara, T., Samura, O., Sasaki, A., Akaishi, R. … Sago, H. (2018). Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 224, 165–169. https://doi.org/10.1016/j.ejogrb.2018.03.048
  • Suzumori, N., Sekizawa, A., Takeda, E., Samura, O., Sasaki, A., Akaishi, R. … Sago, H. (2021). Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 256, 75–81. https://doi.org/10.1016/j.ejogrb.2020.10.050
  • Thurik, F. F., Lamain-de Ruiter, M., Javadi, A., Kwee, A., Woortmeijer, H., Page-Christiaens, G. C. … Koster, M. P. (2016). Absolute first trimester cell-free DNA levels and their associations with adverse pregnancy outcomes. Prenatal Diagnosis, 36(12), 1104–1111. https://doi.org/10.1002/pd.4940
  • Tian, Y., Zhang, L., Tian, W., Gao, J., Jia, L., & Cui, S. (2018). Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform. Molecular Cytogenetics, 11, 49. https://doi.org/10.1186/s13039-018-0397-x
  • Uquillas, K., Chan, Y., King, J. R., Randolph, L. M., & Incerpi, M. (2017). Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA. Prenatal Diagnosis, 37(3), 296–298. https://doi.org/10.1002/pd.4992
  • Vogel, I., Vestergaard, E. M., Lildballe, D. L., Christensen, R., Hoseth, G. E., Petersen, A. C. … Sørensen, A. N. (2020). Placental mosaicism in the era of chromosomal microarrays. European Journal of Medical Genetics, 63(4), 103778. https://doi.org/10.1016/j.ejmg.2019.103778
  • Wang, E., Batey, A., Struble, C., Musci, T., Song, K., & Oliphant, A. (2013). Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenatal Diagnosis, 33(7), 662–666. https://doi.org/10.1002/pd.4119
  • Wilson, K. L., Czerwinski, J. L., Hoskovec, J. M., Noblin, S. J., Sullivan, C. M., Harbison, A. … Singletary, C. N. (2013). NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. Journal of Genetic Counseling, 22(1), 4–15. https://doi.org/10.1007/s10897-012-9545-3
  • Yang, X., Zhou, Q., Zhou, W., Zhong, M., Guo, X., Wang, X., … Xu, X. (2019). A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia. Advanced Science (Weinheim, Baden-Wurttemberg, Germany), 6(11), 1802332. https://doi.org/10.1002/advs.201802332
  • Yuan, X., Zhou, L., Zhang, B., Wang, H., Yu, B., & Xu, J. (2020). Association between low fetal fraction of cell free DNA at the early second-trimester and adverse pregnancy outcomes. Pregnancy Hypertension, 22, 101–108. https://doi.org/10.1016/j.preghy.2020.07.015
  • Zhao, Q., HuoJiaBieKe, J., & Du, S. (2019). The influence of fetal gender and maternal characteristics on fetal cell-free DNA in maternal plasma. Journal of Gynecology Obstetrics and Human Reproduction, 48(8), 653–656. https://doi.org/10.1016/j.jogoh.2019.07.001

CURRENT PRENATAL SCREENING TEST: Cell Free Fetal DNA Analysis

Yıl 2021, Cilt: 7 Sayı: 1, 71 - 84, 31.03.2021

Elif Doğan Hüsniye Dinç

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

Proje Numarası

YOK

Kaynakça

  • American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics (2012). Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstetrics and Gynecology, 120(6), 1532–1534. https://doi.org/10.1097/01.AOG.0000423819.85283.f4
  • American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics & Society for Maternal Fetal Medicine (SMFM). (2016). Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstetrics and gynecology, 127(5), e123–e137. https://doi.org/10.1097/AOG.0000000000001406
  • Benn, P., Borrell, A., Chiu, R. W., Cuckle, H., Dugoff, L., Faas, B. … Yaron, Y. (2015). Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenatal Diagnosis, 35(8), 725–734. https://doi.org/10.1002/pd.4608
  • Benn, P., Valenti, E., Shah, S., Martin, K., & Demko, Z. (2018). Factors Associated With Informative Redraw After an Initial No Result in Noninvasive Prenatal Testing. Obstetrics and Gynecology, 132(2), 428–435. https://doi.org/10.1097/AOG.0000000000002728
  • Bianchi, D. W., Chudova, D., Sehnert, A. J., Bhatt, S., Murray, K., Prosen, T. L. … Halks-Miller, M. (2015). Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA, 314(2), 162–169. https://doi.org/10.1001/jama.2015.7120
  • Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C., Das, A. F. … CARE Study Group (2014). DNA sequencing versus standard prenatal aneuploidy screening. The New England Journal of Medicine, 370(9), 799–808. https://doi.org/10.1056/NEJMoa1311037
  • Burns, W., Koelper, N., Barberio, A., Deagostino-Kelly, M., Mennuti, M., Sammel, M. D., & Dugoff, L. (2017). The association between anticoagulation therapy, maternal characteristics, and a failed cfDNA test due to a low fetal fraction. Prenatal Diagnosis, 37(11), 1125–1129. https://doi.org/10.1002/pd.5152
  • Cheng, S. B., Davis, S., & Sharma, S. (2018). Maternal-fetal cross talk through cell-free fetal DNA, telomere shortening, microchimerism, and inflammation. American Journal of Reproductive Immunology (New York, N.Y. : 1989), 79(5), e12851. https://doi.org/10.1111/aji.12851
  • Contro, E., Bernabini, D., & Farina, A. (2017). Cell-Free Fetal DNA for the Prediction of Pre-Eclampsia at the First and Second Trimesters: A Systematic Review and Meta-Analysis. Molecular Diagnosis & Therapy, 21(2), 125–135. https://doi.org/10.1007/s40291-016-0245-9
  • Cotarelo-Pérez, C., Oancea-Ionescu, R., Asenjo-de-la-Fuente, E., Ortega-de-Heredia, D., Soler-Ruiz, P., Coronado-Martín, P., & Fenollar-Cortés, M. (2019). A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening. European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 1, 100002. https://doi.org/10.1016/j.eurox.2019.100002
  • Curnow, K. J., Wilkins-Haug, L., Ryan, A., Kırkızlar, E., Stosic, M., Hall, M. P. … Gross, S. J. (2015). Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. American Journal of Obstetrics and Gynecology, 212(1), 79.e1–79.e799. https://doi.org/10.1016/j.ajog.2014.10.012
  • Gerson, K. D., Truong, S., Haviland, M. J., O'Brien, B. M., Hacker, M. R., & Spiel, M. H. (2019). Low fetal fraction of cell-free DNA predicts placental dysfunction and hypertensive disease in pregnancy. Pregnancy Hypertension, 16, 148–153. https://doi.org/10.1016/j.preghy.2019.04.002
  • Gil, M. M., Accurti, V., Santacruz, B., Plana, M. N., & Nicolaides, K. H. (2017). Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology: The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 50(3), 302–314. https://doi.org/10.1002/uog.17484
  • Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015). Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology : The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 45(3), 249–266. https://doi.org/10.1002/uog.14791
  • Goldwaser, T., & Klugman, S. (2018). Cell-free DNA for the detection of fetal aneuploidy. Fertility and Sterility, 109(2), 195–200. https://doi.org/10.1016/j.fertnstert.2017.12.019
  • Gregg, A. R., Skotko, B. G., Benkendorf, J. L., Monaghan, K. G., Bajaj, K., Best, R. G. … Watson, M. S. (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine : Official Journal of The American College of Medical Genetics, 18(10), 1056–1065. https://doi.org/10.1038/gim.2016.97
  • Hartwig, T. S., Ambye, L., Werge, L., Weiergang, M. K., Nørgaard, P., Sørensen, S., & Jørgensen, F. S. (2018). Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 226, 35–39. https://doi.org/10.1016/j.ejogrb.2018.04.042
  • Herrera, C. A., Stoerker, J., Carlquist, J., Stoddard, G. J., Jackson, M., Esplin, S., & Rose, N. C. (2017). Cell-free DNA, inflammation, and the initiation of spontaneous term labor. American Journal of Obstetrics and Gynecology, 217(5), 583.e1–583.e8. https://doi.org/10.1016/j.ajog.2017.05.027
  • Hui, L. (2016). Noninvasive prenatal testing for aneuploidy using cell-free DNA - New implications for maternal health. Obstetric Medicine, 9(4), 148–152. https://doi.org/10.1177/1753495X16652007
  • Jain, M., Balatsky, A. V., Revina, D. B., & Samokhodskaya, L. M. (2019). Direct comparison of QIAamp DSP Virus Kit and QIAamp Circulating Nucleic Acid Kit regarding cell-free fetal DNA isolation from maternal peripheral blood. Molecular and Cellular Probes, 43, 13–19. https://doi.org/10.1016/j.mcp.2018.12.006
  • Kageleiry, A., Samuelson, D., Duh, M. S., Lefebvre, P., Campbell, J., & Skotko, B. G. (2017). Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome. American Journal of Medical Genetics. Part A, 173(3), 627–637. https://doi.org/10.1002/ajmg.a.38050
  • Kazachkova, N., Gontar, J., Verlinsky, O., & Ilyin, I. (2019). Successful early fetal sex determination using cell-free fetal DNA isolated from maternal capillary blood: A pilot study. European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 3, 100038. https://doi.org/10.1016/j.eurox.2019.100038
  • Li, W. H., Wang, P. H., Chuang, C. M., Chang, Y. W., Yang, M. J., Chen, C. Y. … Yen, M. S. (2015). Noninvasive prenatal testing for fetal trisomy in a mixed risk factors pregnancy population. Taiwanese Journal of Obstetrics & Gynecology, 54(2), 122–125. https://doi.org/10.1016/j.tjog.2015.02.001
  • Lo, Y. M., Corbetta, N., Chamberlain, P. F., Rai, V., Sargent, I. L., Redman, C. W., & Wainscoat, J. S. (1997). Presence of fetal DNA in maternal plasma and serum. Lancet (London, England), 350(9076), 485–487. https://doi.org/10.1016/S0140-6736(97)02174-0
  • Lund, I., Becher, N., Christensen, R., Petersen, O. B., Steffensen, E. H., Vestergaard, E. M., & Vogel, I. (2020). Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism. Prenatal Diagnosis, 40(2), 244–259. https://doi.org/10.1002/pd.5584
  • Manotaya, S., Xu, H., Uerpairojkit, B., Chen, F., Charoenvidhya, D., Liu, H. … Jiang, H. (2016). Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies. Prenatal Diagnosis, 36(3), 224–231. https://doi.org/10.1002/pd.4775
  • McKanna, T., Ryan, A., Krinshpun, S., Kareht, S., Marchand, K., Grabarits, C. … Benn, P. (2019). Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell-free fetal DNA. Ultrasound in Obstetrics & Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 53(1), 73–79. https://doi.org/10.1002/uog.19176
  • Nicolaides, K. H. (2011). Screening for fetal aneuploidies at 11 to 13 weeks. Prenatal Diagnosis, 31(1), 7–15. https://doi.org/10.1002/pd.2637
  • Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H. … Wapner, R. J. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. The New England Journal of Medicine, 372(17), 1589–1597. https://doi.org/10.1056/NEJMoa1407349
  • Osborne, C. M., Hardisty, E., Devers, P., Kaiser-Rogers, K., Hayden, M. A., Goodnight, W., & Vora, N. L. (2013). Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenatal Diagnosis, 33(6), 609–611. https://doi.org/10.1002/pd.4100
  • Palka, C., Guanciali-Franchi, P., Morizio, E., Alfonsi, M., Papponetti, M., Sabbatinelli, G. … Benn, P. (2019). Non-invasive prenatal screening: A 20-year experience in Italy. European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 3, 100050. https://doi.org/10.1016/j.eurox.2019.100050
  • Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., van den Boom, D., Ehrich, M., Deciu, C. … Haddow, J. E. (2015). Circulating cell free DNA testing: are some test failures informative?. Prenatal Diagnosis, 35(3), 289–293. https://doi.org/10.1002/pd.4541
  • Pös, O., Budiš, J., & Szemes, T. (2019). Recent trends in prenatal genetic screening and testing. F1000Research, 8, F1000 Faculty Rev-764. https://doi.org/10.12688/f1000research.16837.1
  • Qiao, L., Yu, B., Liang, Y., Zhang, C., Wu, X., Xue, Y. … Wang, T. (2019). Sequencing shorter cfDNA fragments improves the fetal DNA fraction in noninvasive prenatal testing. American Journal of Obstetrics and Gynecology, 221(4), 345.e1–345.e11. https://doi.org/10.1016/j.ajog.2019.05.023
  • Ren, Y., Zhao, J., Li, R., Xie, Y., Jiang, S., Zhou, H. … Lu, Y. (2018). Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration. Prenatal Diagnosis, 38(11), 821–828. https://doi.org/10.1002/pd.5334
  • Renga, B. (2018). Non invasive prenatal diagnosis of fetal aneuploidy using cell free fetal DNA. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 225, 5–8. https://doi.org/10.1016/j.ejogrb.2018.03.033
  • Revello, R., Sarno, L., Ispas, A., Akolekar, R., & Nicolaides, K. H. (2016). Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result. Ultrasound in Obstetrics & Gynecology: The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 47(6), 698–704. https://doi.org/10.1002/uog.15851
  • Rolnik, D. L., da Silva Costa, F., Lee, T. J., Schmid, M., & McLennan, A. C. (2018). Association between fetal fraction on cell-free DNA testing and first-trimester markers for pre-eclampsia. Ultrasound in Obstetrics & Gynecology : The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 52(6), 722–727. https://doi.org/10.1002/uog.18993
  • Royal College of Obstetricians and Gynaecologists (RCOG). (2014). Scientific Impact Paper No. 15: Non-invasive Prenatal Testing for Chromosomal Abnormality Using Maternal Plasma DNA. Obstet Gynecol, 16: 148-148. https://doi.org/10.1111/tog.12099
  • Salomon, L. J., Alfirevic, Z., Audibert, F., Kagan, K. O., Paladini, D., Yeo, G. … ISUOG Clinical Standards Committee (2014). ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasound in Obstetrics & Gynecology : the Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 44(1), 122–123. https://doi.org/10.1002/uog.13393
  • Sieroszewski, P., Wielgos, M., Radowicki, S., Sasiadek, M., Borowiec, M., Borowski, D. … Moczulska, H. (2017). Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 214, 190–191. https://doi.org/10.1016/j.ejogrb.2017.05.009
  • Society for Maternal-Fetal Medicine (SMFM) Publications Committee. (2015). #36: Prenatal aneuploidy screening using cell-free DNA. American Journal of Obstetrics and Gynecology, 212(6), 711–716. https://doi.org/10.1016/j.ajog.2015.03.043
  • Suzumori, N., Sekizawa, A., Ebara, T., Samura, O., Sasaki, A., Akaishi, R. … Sago, H. (2018). Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 224, 165–169. https://doi.org/10.1016/j.ejogrb.2018.03.048
  • Suzumori, N., Sekizawa, A., Takeda, E., Samura, O., Sasaki, A., Akaishi, R. … Sago, H. (2021). Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 256, 75–81. https://doi.org/10.1016/j.ejogrb.2020.10.050
  • Thurik, F. F., Lamain-de Ruiter, M., Javadi, A., Kwee, A., Woortmeijer, H., Page-Christiaens, G. C. … Koster, M. P. (2016). Absolute first trimester cell-free DNA levels and their associations with adverse pregnancy outcomes. Prenatal Diagnosis, 36(12), 1104–1111. https://doi.org/10.1002/pd.4940
  • Tian, Y., Zhang, L., Tian, W., Gao, J., Jia, L., & Cui, S. (2018). Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform. Molecular Cytogenetics, 11, 49. https://doi.org/10.1186/s13039-018-0397-x
  • Uquillas, K., Chan, Y., King, J. R., Randolph, L. M., & Incerpi, M. (2017). Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA. Prenatal Diagnosis, 37(3), 296–298. https://doi.org/10.1002/pd.4992
  • Vogel, I., Vestergaard, E. M., Lildballe, D. L., Christensen, R., Hoseth, G. E., Petersen, A. C. … Sørensen, A. N. (2020). Placental mosaicism in the era of chromosomal microarrays. European Journal of Medical Genetics, 63(4), 103778. https://doi.org/10.1016/j.ejmg.2019.103778
  • Wang, E., Batey, A., Struble, C., Musci, T., Song, K., & Oliphant, A. (2013). Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenatal Diagnosis, 33(7), 662–666. https://doi.org/10.1002/pd.4119
  • Wilson, K. L., Czerwinski, J. L., Hoskovec, J. M., Noblin, S. J., Sullivan, C. M., Harbison, A. … Singletary, C. N. (2013). NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. Journal of Genetic Counseling, 22(1), 4–15. https://doi.org/10.1007/s10897-012-9545-3
  • Yang, X., Zhou, Q., Zhou, W., Zhong, M., Guo, X., Wang, X., … Xu, X. (2019). A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia. Advanced Science (Weinheim, Baden-Wurttemberg, Germany), 6(11), 1802332. https://doi.org/10.1002/advs.201802332
  • Yuan, X., Zhou, L., Zhang, B., Wang, H., Yu, B., & Xu, J. (2020). Association between low fetal fraction of cell free DNA at the early second-trimester and adverse pregnancy outcomes. Pregnancy Hypertension, 22, 101–108. https://doi.org/10.1016/j.preghy.2020.07.015
  • Zhao, Q., HuoJiaBieKe, J., & Du, S. (2019). The influence of fetal gender and maternal characteristics on fetal cell-free DNA in maternal plasma. Journal of Gynecology Obstetrics and Human Reproduction, 48(8), 653–656. https://doi.org/10.1016/j.jogoh.2019.07.001
Toplam 53 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Hemşirelik
Bölüm Derleme Makale
Yazarlar

Elif Doğan 0000-0003-3374-1764

Hüsniye Dinç 0000-0002-8461-643X

Proje Numarası YOK
Yayımlanma Tarihi 31 Mart 2021
Kabul Tarihi 4 Mart 2021
Yayımlandığı Sayı Yıl 2021 Cilt: 7 Sayı: 1

Kaynak Göster

APA Doğan, E., & Dinç, H. (2021). Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi. Kadın Sağlığı Hemşireliği Dergisi, 7(1), 71-84.
AMA Doğan E, Dinç H. Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi. KASHED. Mart 2021;7(1):71-84.
Chicago Doğan, Elif, ve Hüsniye Dinç. “Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi”. Kadın Sağlığı Hemşireliği Dergisi 7, sy. 1 (Mart 2021): 71-84.
EndNote Doğan E, Dinç H (01 Mart 2021) Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi. Kadın Sağlığı Hemşireliği Dergisi 7 1 71–84.
IEEE E. Doğan ve H. Dinç, “Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi”, KASHED, c. 7, sy. 1, ss. 71–84, 2021.
ISNAD Doğan, Elif - Dinç, Hüsniye. “Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi”. Kadın Sağlığı Hemşireliği Dergisi 7/1 (Mart 2021), 71-84.
JAMA Doğan E, Dinç H. Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi. KASHED. 2021;7:71–84.
MLA Doğan, Elif ve Hüsniye Dinç. “Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi”. Kadın Sağlığı Hemşireliği Dergisi, c. 7, sy. 1, 2021, ss. 71-84.
Vancouver Doğan E, Dinç H. Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi. KASHED. 2021;7(1):71-84.
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