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The usage and current approaches of cell free fetal DNA (cffDNA) as a prenatal diagnostic method in fetal aneuploidy screening

Year 2015, , - , 03.01.2016
https://doi.org/10.5799/ahinjs.01.2015.04.0560

Abstract

Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT), but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA) that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome) 1/800, trisomy 13 (Patau syndrome) 1 /10,000, trisomy 18 (Edwards syndrome) is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4): 414-417

Key words: Prenatal diagnosis, non-invasive prenatal test, cffDNA test

References

  • Yüreğir Ö. Ö, Büyükkurt S, Koç F, et al. Prenatal Tanı. Arşiv Kaynak Tarama Dergisi 2012;21:1.
  • Aydınlı K. Prenatal Tanı ve Tedavi, 1. Baskı. İstanbul: Prestij
  • Matbaası, 1992:1-90.
  • Nussbaum RL, Mclnnes RR, Willard HF. Principles of Clinical
  • Cytogenetics Thompson and Thompson Genetics In Medicine, Sixth ed. Philadelphia: W.B. Saunders Company, 2001:307-308.
  • Yenilmez E. D, Tuli A. İnvaziv olmayan bir prenatal tanı yöntemi;
  • maternal plazmadaki serbest fetal DNA. Arşiv Kaynak Tarama Dergisi 2013;22:3.
  • Balkan M, Erdemoğlu M, Budak T. Patau sendromlu bir prenatal
  • tanı olgu sunumu. Dicle Tıp Dergisi 2008;35:2.
  • Fuchs F, Riis P. Antenatal sex determination. Nature 1956;177:330.
  • ACOG Committee Opinion: Down Syndrome Screening.Publication No. 141,1994, American College of Obstetricians and Gynecologists, Washington, DC.
  • Lynch L, Berkowitz RL. Amniocentesis, Skin Biopsy, Umblical Cord Blood Sampling in the Prenatal Diagnosis of Genetic Disorders. In: Reece EA, Hobbins JC, Mahoney MJ, eds. Medicine of the Fetus and Mother, 2nd edn. Philadelphia: JB. Lippincott, 1992:641-652.
  • Kıvançlı İ. 24-28. Gebelik Haftalarında Doppler Akım Değişiklikleri ile Maternal Kanda Fetal DNA Değerleri Arasındaki İlişki. Ankara Üniversitesi Tıp Fakültesi Kadın Hastalıkları ve Doğum Anabilim Dalı, Tıpta Uzmanlık Tezi,Ankara-2013.
  • LI Ying. Biochemical and clinical diagnostic aspects of circulating nucleic acids. University of Basel, PhD Thesis, Basel-2005.
  • Robson S. J, Hui L. National decline in invasive prenatal
  • diagnostic procedures in association with uptake of combined
  • first trimester and cellfree DNA aneuploidy screening. Australian and New Zealand Journal of Obstetrics and Gynaecology 2015;55:507-508.
  • ACOG Committee Opinion: Down Syndrome Screening. Publication No. 141,1994, American College of Obstetricians and Gynecologists, Washington, DC.
  • Toker F. Yüksek Riskli Gebe Popülasyonunda Ultrasonografik,
  • Laboratuar Ve Anamnestik Risk Faktörlerinin Aneuploidi Öngörüsündeki Etkinlikleri. Sağlık Bakanlığı Süleymaniye Kadın Hastalıkları ve Doğum Eğitim ve Araştırma Hastanesi, Kadın Hastalıkları ve Doğum Bölümü, Uzmanlık Tezi, İstanbul- 2009.
  • Uğurlu T. Fetal kromozomal anomalilerin QF-PCR (Kantitatif
  • floresan polimeraz zincir reaksiyonu) ile tespiti ve etkinliğinin aminoasit kültürleri ile karşılaştırılması. Ege Doğumevi ve Kadın Hastalıkları Eğitim ve Araştırma Hastanesi,İzmir- 2007.
  • Güdücü N, Gönenç G, İşçi H, et al. First trimester serum
  • PAPP-A levels and the prediction of small-for-gestational age infants. J Clin Exp Invest www. jceionline. org 2012;3:2.
  • Laigaard J, Sorensen T, Placing S, et al. Reduction of the disintegrin and metalloprotease ADAM12 in preeclampsia. Obstet Gynecol 2005;106:144-149.
  • Maron JL, Bianchi DW. Prenatal diagnosis using cell free nucleic acids in maternal body fluits: a decade of process. Am J Med Genet C Semin Med Genet 2007;145:5-17.
  • http://www.acog.org/About-ACOG/Newsoom/PracticeAdvisories/ACOG-Practice-Advisory-on-Cell-Free-DNAScreening Erişim Tarihi:28 Ağustos 2015.
  • Durak B. Normal Ve Translokasyon Taşıyıcısı Erkeklerin Spermiumlarında FISH’le Kromozom Analizi. Osmangazi Üniversitesi, Tıbbi Biyoloji Ana Bilim Dalı, Tıbbi Genetik Bilim Dalı. Doktora Tezi, Eskişehir -1998.
  • Pazarbaşı A, Demirhan O, Taşdemir D, et al. Amniyosentez ile Tanı Konulan 4707 Olgunun Sitogenetik Bulgularının Değerlendirilmesi. Cukurova Medical Journal 2011;36:1.
  • Nicolaides KH. Screening for chromosomal defects. Ultrasound
  • Obstet. Gynecol 2003;21:313-321.
  • https://druslu.wordpress.com/2013/04/02/cell-free-fetaldna-testi/Erişim Tarihi:28 Ağustos 2015.
  • Rebouché R. Non-Invasive Testing, Non-Invasive Counseling.
  • The Journal of Law, Medicine & Ethics 2015;43:2-228-240.
  • http://nsgc.org/page/abnormal-non-invasive-prenatal-testing-results.Erişim Tarihi: 3 Eylül 2015.
  • Fairbrother G, Johnson S, Musci T. J, Song K. Clinical experience
  • of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenatal diagnosis 2013;33:6-580-583.
  • Benn P, Curnow K. J, Chapman S, et al. An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population. PloS one 2015;10:7.
  • Anon. Committee opinion no. 545: noninvasive prenatal
  • testing for fetal aneuploidy. Obstet Gynecol 2012;120:1532–1534.
  • Bischoff FZ, Sinacori MK, Dang DD, et al. Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis. Hum Reprod Update 2002;8:493–500.
  • Bianchi Diana W, et al. Noninvasive prenatal testing and
  • incidental detection of occult maternal malignancies. JAMA 2015;314.2:162-169.
Year 2015, , - , 03.01.2016
https://doi.org/10.5799/ahinjs.01.2015.04.0560

Abstract

References

  • Yüreğir Ö. Ö, Büyükkurt S, Koç F, et al. Prenatal Tanı. Arşiv Kaynak Tarama Dergisi 2012;21:1.
  • Aydınlı K. Prenatal Tanı ve Tedavi, 1. Baskı. İstanbul: Prestij
  • Matbaası, 1992:1-90.
  • Nussbaum RL, Mclnnes RR, Willard HF. Principles of Clinical
  • Cytogenetics Thompson and Thompson Genetics In Medicine, Sixth ed. Philadelphia: W.B. Saunders Company, 2001:307-308.
  • Yenilmez E. D, Tuli A. İnvaziv olmayan bir prenatal tanı yöntemi;
  • maternal plazmadaki serbest fetal DNA. Arşiv Kaynak Tarama Dergisi 2013;22:3.
  • Balkan M, Erdemoğlu M, Budak T. Patau sendromlu bir prenatal
  • tanı olgu sunumu. Dicle Tıp Dergisi 2008;35:2.
  • Fuchs F, Riis P. Antenatal sex determination. Nature 1956;177:330.
  • ACOG Committee Opinion: Down Syndrome Screening.Publication No. 141,1994, American College of Obstetricians and Gynecologists, Washington, DC.
  • Lynch L, Berkowitz RL. Amniocentesis, Skin Biopsy, Umblical Cord Blood Sampling in the Prenatal Diagnosis of Genetic Disorders. In: Reece EA, Hobbins JC, Mahoney MJ, eds. Medicine of the Fetus and Mother, 2nd edn. Philadelphia: JB. Lippincott, 1992:641-652.
  • Kıvançlı İ. 24-28. Gebelik Haftalarında Doppler Akım Değişiklikleri ile Maternal Kanda Fetal DNA Değerleri Arasındaki İlişki. Ankara Üniversitesi Tıp Fakültesi Kadın Hastalıkları ve Doğum Anabilim Dalı, Tıpta Uzmanlık Tezi,Ankara-2013.
  • LI Ying. Biochemical and clinical diagnostic aspects of circulating nucleic acids. University of Basel, PhD Thesis, Basel-2005.
  • Robson S. J, Hui L. National decline in invasive prenatal
  • diagnostic procedures in association with uptake of combined
  • first trimester and cellfree DNA aneuploidy screening. Australian and New Zealand Journal of Obstetrics and Gynaecology 2015;55:507-508.
  • ACOG Committee Opinion: Down Syndrome Screening. Publication No. 141,1994, American College of Obstetricians and Gynecologists, Washington, DC.
  • Toker F. Yüksek Riskli Gebe Popülasyonunda Ultrasonografik,
  • Laboratuar Ve Anamnestik Risk Faktörlerinin Aneuploidi Öngörüsündeki Etkinlikleri. Sağlık Bakanlığı Süleymaniye Kadın Hastalıkları ve Doğum Eğitim ve Araştırma Hastanesi, Kadın Hastalıkları ve Doğum Bölümü, Uzmanlık Tezi, İstanbul- 2009.
  • Uğurlu T. Fetal kromozomal anomalilerin QF-PCR (Kantitatif
  • floresan polimeraz zincir reaksiyonu) ile tespiti ve etkinliğinin aminoasit kültürleri ile karşılaştırılması. Ege Doğumevi ve Kadın Hastalıkları Eğitim ve Araştırma Hastanesi,İzmir- 2007.
  • Güdücü N, Gönenç G, İşçi H, et al. First trimester serum
  • PAPP-A levels and the prediction of small-for-gestational age infants. J Clin Exp Invest www. jceionline. org 2012;3:2.
  • Laigaard J, Sorensen T, Placing S, et al. Reduction of the disintegrin and metalloprotease ADAM12 in preeclampsia. Obstet Gynecol 2005;106:144-149.
  • Maron JL, Bianchi DW. Prenatal diagnosis using cell free nucleic acids in maternal body fluits: a decade of process. Am J Med Genet C Semin Med Genet 2007;145:5-17.
  • http://www.acog.org/About-ACOG/Newsoom/PracticeAdvisories/ACOG-Practice-Advisory-on-Cell-Free-DNAScreening Erişim Tarihi:28 Ağustos 2015.
  • Durak B. Normal Ve Translokasyon Taşıyıcısı Erkeklerin Spermiumlarında FISH’le Kromozom Analizi. Osmangazi Üniversitesi, Tıbbi Biyoloji Ana Bilim Dalı, Tıbbi Genetik Bilim Dalı. Doktora Tezi, Eskişehir -1998.
  • Pazarbaşı A, Demirhan O, Taşdemir D, et al. Amniyosentez ile Tanı Konulan 4707 Olgunun Sitogenetik Bulgularının Değerlendirilmesi. Cukurova Medical Journal 2011;36:1.
  • Nicolaides KH. Screening for chromosomal defects. Ultrasound
  • Obstet. Gynecol 2003;21:313-321.
  • https://druslu.wordpress.com/2013/04/02/cell-free-fetaldna-testi/Erişim Tarihi:28 Ağustos 2015.
  • Rebouché R. Non-Invasive Testing, Non-Invasive Counseling.
  • The Journal of Law, Medicine & Ethics 2015;43:2-228-240.
  • http://nsgc.org/page/abnormal-non-invasive-prenatal-testing-results.Erişim Tarihi: 3 Eylül 2015.
  • Fairbrother G, Johnson S, Musci T. J, Song K. Clinical experience
  • of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenatal diagnosis 2013;33:6-580-583.
  • Benn P, Curnow K. J, Chapman S, et al. An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population. PloS one 2015;10:7.
  • Anon. Committee opinion no. 545: noninvasive prenatal
  • testing for fetal aneuploidy. Obstet Gynecol 2012;120:1532–1534.
  • Bischoff FZ, Sinacori MK, Dang DD, et al. Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis. Hum Reprod Update 2002;8:493–500.
  • Bianchi Diana W, et al. Noninvasive prenatal testing and
  • incidental detection of occult maternal malignancies. JAMA 2015;314.2:162-169.
There are 43 citations in total.

Details

Primary Language Turkish
Journal Section Collection
Authors

Hülya Erbaba This is me

Gül Pınar This is me

Publication Date January 3, 2016
Published in Issue Year 2015

Cite

APA Erbaba, H., & Pınar, G. (2016). The usage and current approaches of cell free fetal DNA (cffDNA) as a prenatal diagnostic method in fetal aneuploidy screening. Journal of Clinical and Experimental Investigations, 6(4). https://doi.org/10.5799/ahinjs.01.2015.04.0560
AMA Erbaba H, Pınar G. The usage and current approaches of cell free fetal DNA (cffDNA) as a prenatal diagnostic method in fetal aneuploidy screening. J Clin Exp Invest. January 2016;6(4). doi:10.5799/ahinjs.01.2015.04.0560
Chicago Erbaba, Hülya, and Gül Pınar. “The Usage and Current Approaches of Cell Free Fetal DNA (cffDNA) As a Prenatal Diagnostic Method in Fetal Aneuploidy Screening”. Journal of Clinical and Experimental Investigations 6, no. 4 (January 2016). https://doi.org/10.5799/ahinjs.01.2015.04.0560.
EndNote Erbaba H, Pınar G (January 1, 2016) The usage and current approaches of cell free fetal DNA (cffDNA) as a prenatal diagnostic method in fetal aneuploidy screening. Journal of Clinical and Experimental Investigations 6 4
IEEE H. Erbaba and G. Pınar, “The usage and current approaches of cell free fetal DNA (cffDNA) as a prenatal diagnostic method in fetal aneuploidy screening”, J Clin Exp Invest, vol. 6, no. 4, 2016, doi: 10.5799/ahinjs.01.2015.04.0560.
ISNAD Erbaba, Hülya - Pınar, Gül. “The Usage and Current Approaches of Cell Free Fetal DNA (cffDNA) As a Prenatal Diagnostic Method in Fetal Aneuploidy Screening”. Journal of Clinical and Experimental Investigations 6/4 (January 2016). https://doi.org/10.5799/ahinjs.01.2015.04.0560.
JAMA Erbaba H, Pınar G. The usage and current approaches of cell free fetal DNA (cffDNA) as a prenatal diagnostic method in fetal aneuploidy screening. J Clin Exp Invest. 2016;6. doi:10.5799/ahinjs.01.2015.04.0560.
MLA Erbaba, Hülya and Gül Pınar. “The Usage and Current Approaches of Cell Free Fetal DNA (cffDNA) As a Prenatal Diagnostic Method in Fetal Aneuploidy Screening”. Journal of Clinical and Experimental Investigations, vol. 6, no. 4, 2016, doi:10.5799/ahinjs.01.2015.04.0560.
Vancouver Erbaba H, Pınar G. The usage and current approaches of cell free fetal DNA (cffDNA) as a prenatal diagnostic method in fetal aneuploidy screening. J Clin Exp Invest. 2016;6(4).