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Non-İnvaziv Prenatal Testlerde Güncel Yaklaşımlar: Hemşirelik, Danışmanlık ve Etik

Year 2020, Volume: 17 Issue: 1, 301 - 304, 31.03.2020

Nuran Nur Aypar Akbağ , Merlinda Aluş Tokat , Özlem Çeçe

Abstract

Prenatal dönemde uygulanan genetik taramalar ülkemizde ve dünyada her geçen gün gelişmektedir. Prenatal genetik taramalardaki en güncel yaklaşımlardan biri non-invaziv prenatal tanı testleridir (NIPT). Süreç içerisinde çiftler için NIPT’in uygulama şekli ve sunulacak genetik danışmanlık konuları oldukça önemlidir. Testin ne olduğu, nasıl yapıldığı, nelerin değerlendirildiği ve NIPT’in avantaj ve dezavantajları gibi bilgilerin sağlık personeli tarafından danışmanlık sürecine entegre edilmesi gerekmektedir. Danışmanlık sürecinde hemşirelerin nerede yer aldığı ve ne düzeyde sorumluluk alacağı ise tartışmalı bir konudur. Sonuç olarak; sağlık profesyonelleri non-invaziv prenatal tanı testleri konusunda gelişmeleri takip ederek, gebelere etik ilkelere uygun danışmanlık vermeli ve farkındalıklarını artırmada aktif rol almalıdır.

Keywords

Non-invaziv Prenatal Testler Hemşirelik Genetik Danışmanlık Etik

References

  • 1. Samura O, Sekizawa A, Suzumori N, Sasaki A, Wada S, Hamanoue H, et al. Current Status of Non-Invasive Prenatal Testing in Japan. J. Obstet. Gynaecol. Res.2017;43(8):1245–1255.
  • 2. Tabor A, Alfirevic Z. Update on Procedure-Related Risks for Prenatal Diagnosis Techniques. Fetal Diagn Ther.2017; 27:1–7.
  • 3. Klages K, Kundu S, Erlenwein J, Elsaesser M, Hillemanns P, Scharf A, et al. Maternal Anxiety and Its Correlation with Pain Experience During Chorion Villus Sampling and Amniocentesis. Journal of Pain Research.2017;10: 591–600.
  • 4. Bot-Robin V, Sendon S, Bourzofi K, Vaast P, Deken V, Dutoit P et al. Maternal Anxiety and Pain During Prenatal Diagnostic Techniques: A Prospective Study. Prenatal Diagn. 2012;32:562–568.
  • 5. Ashoor G, Syngelaki A, Poon LCY, Rezende JC, Nicolaides KH. Fetal Fraction in Maternal Plasma Cell-Free DNA at 11–13 Weeks’ Gestation: Relation to Maternal and Fetal Characteristics. Ultrasound Obstet Gynecol. 2013;41: 26–32.
  • 6. Ngan OMY, Yi H, Wong SYSW, Sahota D, Ahmed S. Obstetric Professionals’ Perceptions of Non-Invasive Prenatal Testing for Down Syndrome: Clinical Usefulness Compared with Existing Tests and Ethical Implications. BMC Pregnancy and Childbirth.2017; 17:285.
  • 7. Mikamo S, Nakatsuka M. Knowledge and Attitudes toward Non-Invasive Prenatal Testing among Pregnant Japanese Women. Acta Med Okayama.2015; 69(3):155-63.
  • 8. Georgsson S, Sahlin E, Iwarsson M, Nordenskjold M, Gustavsson P, Iwarsson E. Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden. J Genet Couns.2017;26(3): 447–454.
  • 9. Gharaibeh H, Oweis A, Hamad KH. Nurses’ and Midwives’ Knowledge and Perceptions of Their Role in Genetic Teaching. International Nursing Review.2010; 57, 435–442.
  • 10. Amerıcan College of Obstetrıcıans and Gynecologısts (ACOG). Cell-free DNA Screening for Fetal Aneuploidy. Committee Opinion Number 545). 2017.
  • 11. Fact Sheet For Patients A Product Of The National Society Of Genetic Counselors (NSGC). Prenatal Special Interest Group and The National Center for Prenatal and Postnatal Resources/Lettercase. 2015.
  • 12. Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CWG, et al. Presence of Fetal DNA in Maternal Plasma and Serum. Lancet.1997; 350:485–7.
  • 13. Mackie FL, Hemming K, Allen S, Kilbya MD. The Accuracy of Cell-Free Fetal DNA-Based Non-Invasive Prenatal Testing in Singleton Pregnancies: A Systematic Review and Bivariate Meta-Analysis. BJOG.2017;124:32.
  • 14. Summers AM, Langlois S, Wyatt P, Wilson RD. Prenatal Screening for Fetal Aneuploidy. The Society of Obstetricians and Gynaecologists of Canada (SOGC) Clinical Practice Guideline.2007;87:146-161.
  • 15. Kotsopouloua I, Tsoploua P, Mavrommatis K, Kroupis C. Non-Invasive Prenatal Testing (NIPT): Limitations on The Way to Become Diagnosis. Diagnosis.2015; 2(3): 141–158.
  • 16. Gulland A. Non-invasive prenatal screening should be banned for sex selection, says ethics report. BMJ. 2017;356:j1071. doi: 10.1136/bmj.j1071
  • 17. Nuffield Council on Bioethics. Non-invasive prenatal testing: ethical issues. Mart 2017. http://nuffieldbioethics.org/.
  • 18. Taglauer ES, Wilkins-Haug L, Bianchi DW. Review: Cell-free Fetal DNA in The Maternal Circulation As an İndication of Placental Health and Disease. Placenta.2014;35:64–68. doi:10.1016/j.placenta.2013.11.014
  • 19. Hahn S, Rusterholz C, Hosli I, Lapaire O. Cell-Free Nucleic Acids as Potential Markers for Preeclampsia. Placenta.2011; 32:17–20.
  • 20. Royal College of Obstetricians and Gynaecologists (RCOG). Non-Invasive Prenatal Testing for Chromosomal Abnormality using Maternal Plasma DNA. Scientific Impact Paper.2014, No: 15.
  • 21. Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational Age and Maternal Weight Effects on Fetal Cell-free DNA in Maternal Plasma. Prenat Diagn.2013;33:662–666.
  • 22. Hemşirelik Yönetmeliği. Resmi gazete sayısı: 27515, Resmi gazete tarihi: 08.03.2010.
  • 23. Organisatıon for Economic Co-Operation and Development (OECD). 2007. Guidelines for quality assurance in molecular genetic testing. http://www.oecd.org/sti/biotech/38839788.pdf.
  • 24. Devers Pl, Cronister A, Ormond Ke, Facio F, Brasington Ck, Flodman P. Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: The Position of The National Society of Genetic Counselors. NSGC Position Statements. J Genet Couns. 2013. doi:10.1007/s10897-012-9564-0.
  • 25. Oepkes D, Yaron Y, Kozlowski P, Rego De Sousa MJ, Bartha LJ, Van Den Akker ES, et al. Opinion, Counseling for Non-Invasıve Prenatal Testing (NIPT): What Pregnant Women May Want to Know. Ultrasound Obstet Gynecol.2014;44: 1–5. doi: 10.1002/uog.13394.
  • 26. Cartier L, Murphy-Kaulbeck L. Counselling Considerations for Prenatal Genetic Screening. J Obstet Gynaecol Can. 2012; 34(5):489–493.
  • 27. Genetik Hastalıklar Tanı Merkezleri Yönetmeliği. Resmi Gazete. 1998. Tarih: 10.06.1998, Sayı No: 23368.
  • 28. World Health Organization (WHO). Review of Ethical Issues in Medical Genetics, Prenatal Diagnosis: Indications and Societal Effects.2003;62-63.

Year 2020, Volume: 17 Issue: 1, 301 - 304, 31.03.2020

Nuran Nur Aypar Akbağ , Merlinda Aluş Tokat , Özlem Çeçe

Abstract

References

  • 1. Samura O, Sekizawa A, Suzumori N, Sasaki A, Wada S, Hamanoue H, et al. Current Status of Non-Invasive Prenatal Testing in Japan. J. Obstet. Gynaecol. Res.2017;43(8):1245–1255.
  • 2. Tabor A, Alfirevic Z. Update on Procedure-Related Risks for Prenatal Diagnosis Techniques. Fetal Diagn Ther.2017; 27:1–7.
  • 3. Klages K, Kundu S, Erlenwein J, Elsaesser M, Hillemanns P, Scharf A, et al. Maternal Anxiety and Its Correlation with Pain Experience During Chorion Villus Sampling and Amniocentesis. Journal of Pain Research.2017;10: 591–600.
  • 4. Bot-Robin V, Sendon S, Bourzofi K, Vaast P, Deken V, Dutoit P et al. Maternal Anxiety and Pain During Prenatal Diagnostic Techniques: A Prospective Study. Prenatal Diagn. 2012;32:562–568.
  • 5. Ashoor G, Syngelaki A, Poon LCY, Rezende JC, Nicolaides KH. Fetal Fraction in Maternal Plasma Cell-Free DNA at 11–13 Weeks’ Gestation: Relation to Maternal and Fetal Characteristics. Ultrasound Obstet Gynecol. 2013;41: 26–32.
  • 6. Ngan OMY, Yi H, Wong SYSW, Sahota D, Ahmed S. Obstetric Professionals’ Perceptions of Non-Invasive Prenatal Testing for Down Syndrome: Clinical Usefulness Compared with Existing Tests and Ethical Implications. BMC Pregnancy and Childbirth.2017; 17:285.
  • 7. Mikamo S, Nakatsuka M. Knowledge and Attitudes toward Non-Invasive Prenatal Testing among Pregnant Japanese Women. Acta Med Okayama.2015; 69(3):155-63.
  • 8. Georgsson S, Sahlin E, Iwarsson M, Nordenskjold M, Gustavsson P, Iwarsson E. Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden. J Genet Couns.2017;26(3): 447–454.
  • 9. Gharaibeh H, Oweis A, Hamad KH. Nurses’ and Midwives’ Knowledge and Perceptions of Their Role in Genetic Teaching. International Nursing Review.2010; 57, 435–442.
  • 10. Amerıcan College of Obstetrıcıans and Gynecologısts (ACOG). Cell-free DNA Screening for Fetal Aneuploidy. Committee Opinion Number 545). 2017.
  • 11. Fact Sheet For Patients A Product Of The National Society Of Genetic Counselors (NSGC). Prenatal Special Interest Group and The National Center for Prenatal and Postnatal Resources/Lettercase. 2015.
  • 12. Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CWG, et al. Presence of Fetal DNA in Maternal Plasma and Serum. Lancet.1997; 350:485–7.
  • 13. Mackie FL, Hemming K, Allen S, Kilbya MD. The Accuracy of Cell-Free Fetal DNA-Based Non-Invasive Prenatal Testing in Singleton Pregnancies: A Systematic Review and Bivariate Meta-Analysis. BJOG.2017;124:32.
  • 14. Summers AM, Langlois S, Wyatt P, Wilson RD. Prenatal Screening for Fetal Aneuploidy. The Society of Obstetricians and Gynaecologists of Canada (SOGC) Clinical Practice Guideline.2007;87:146-161.
  • 15. Kotsopouloua I, Tsoploua P, Mavrommatis K, Kroupis C. Non-Invasive Prenatal Testing (NIPT): Limitations on The Way to Become Diagnosis. Diagnosis.2015; 2(3): 141–158.
  • 16. Gulland A. Non-invasive prenatal screening should be banned for sex selection, says ethics report. BMJ. 2017;356:j1071. doi: 10.1136/bmj.j1071
  • 17. Nuffield Council on Bioethics. Non-invasive prenatal testing: ethical issues. Mart 2017. http://nuffieldbioethics.org/.
  • 18. Taglauer ES, Wilkins-Haug L, Bianchi DW. Review: Cell-free Fetal DNA in The Maternal Circulation As an İndication of Placental Health and Disease. Placenta.2014;35:64–68. doi:10.1016/j.placenta.2013.11.014
  • 19. Hahn S, Rusterholz C, Hosli I, Lapaire O. Cell-Free Nucleic Acids as Potential Markers for Preeclampsia. Placenta.2011; 32:17–20.
  • 20. Royal College of Obstetricians and Gynaecologists (RCOG). Non-Invasive Prenatal Testing for Chromosomal Abnormality using Maternal Plasma DNA. Scientific Impact Paper.2014, No: 15.
  • 21. Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational Age and Maternal Weight Effects on Fetal Cell-free DNA in Maternal Plasma. Prenat Diagn.2013;33:662–666.
  • 22. Hemşirelik Yönetmeliği. Resmi gazete sayısı: 27515, Resmi gazete tarihi: 08.03.2010.
  • 23. Organisatıon for Economic Co-Operation and Development (OECD). 2007. Guidelines for quality assurance in molecular genetic testing. http://www.oecd.org/sti/biotech/38839788.pdf.
  • 24. Devers Pl, Cronister A, Ormond Ke, Facio F, Brasington Ck, Flodman P. Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: The Position of The National Society of Genetic Counselors. NSGC Position Statements. J Genet Couns. 2013. doi:10.1007/s10897-012-9564-0.
  • 25. Oepkes D, Yaron Y, Kozlowski P, Rego De Sousa MJ, Bartha LJ, Van Den Akker ES, et al. Opinion, Counseling for Non-Invasıve Prenatal Testing (NIPT): What Pregnant Women May Want to Know. Ultrasound Obstet Gynecol.2014;44: 1–5. doi: 10.1002/uog.13394.
  • 26. Cartier L, Murphy-Kaulbeck L. Counselling Considerations for Prenatal Genetic Screening. J Obstet Gynaecol Can. 2012; 34(5):489–493.
  • 27. Genetik Hastalıklar Tanı Merkezleri Yönetmeliği. Resmi Gazete. 1998. Tarih: 10.06.1998, Sayı No: 23368.
  • 28. World Health Organization (WHO). Review of Ethical Issues in Medical Genetics, Prenatal Diagnosis: Indications and Societal Effects.2003;62-63.
There are 28 citations in total.

Details

Primary Language Turkish
Subjects Obstetrics and Gynaecology
Journal Section Review
Authors

Nuran Nur Aypar Akbağ 0000-0002-4693-2896

Merlinda Aluş Tokat 0000-0002-5899-0524

Özlem Çeçe 0000-0001-5124-5719

Publication Date March 31, 2020
Submission Date December 27, 2019
Acceptance Date January 28, 2020
Published in Issue Year 2020 Volume: 17 Issue: 1

Cite

Vancouver Aypar Akbağ NN, Aluş Tokat M, Çeçe Ö. Non-İnvaziv Prenatal Testlerde Güncel Yaklaşımlar: Hemşirelik, Danışmanlık ve Etik. JGON. 2020;17(1):301-4.
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