Research Article
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Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey

Year 2020, Volume: 22 Issue: 1, 7 - 12, 30.04.2020
https://doi.org/10.18678/dtfd.631734

Abstract

Aim: The aim of this study is to retrospectively evaluate the indications and karyotype results of amniocentesis and chorion villus sampling performed in Health Sciences University, Van Education and Research Hospital, Department of Perinatology.
Material and Methods: In this study, 157 patients who underwent amniocentesis and 58 patients who performed chorion villus sampling procedure for different indications in our perinatology clinic between March 2017 and March 2019 were evaluated retrospectively. A spinal needle of 22-Gauge for amniocentesis procedure and a 20-Gauge spinal needle for chorionic villus sampling were used.
Results: Genetic abnormality was detected in 14.6% of amniocentesis (n=23) and 34.5% of chorion villus sampling cases (n=20). Twenty (87.0%) of the chromosomal anomalies detected in amniocentesis and 18 (90.0%) of the anomalies detected in chorionic villus sampling were numerical anomalies. The most common chromosomal anomaly of these numerical anomalies was trisomy 21. The most common indication for patients who underwent amniocentesis and chorionic villus sampling was abnormal ultrasound findings, followed by high risk in triple or quadruple test.
Conclusion: Amniocentesis and chorion villus sampling are commonly performed invasive tests for prenatal diagnosis of genetic diseases. The indications of amniocentesis and chorion villus sampling procedures and the rate of genetic anomaly detected as a result of genetic analysis applied to these samples in our clinic were compatible with literature. It is thought that this study will contribute to the literature since this is the first study that evaluates the results of amniocentesis and chorion villus sampling in Van and nearby cities.

References

  • Nussbaum RL, McInnes RR, Willard HF. Thompson and Thompson genetics in medicine. 6th ed. Philadelphia: Saunders; 2001.
  • Aksoy S. Antenatal screening and its possible meaning from unborn baby’s perspective. BMC Med Ethics. 2001;2:E3.
  • Suciu I, Galeva S, Abdel Azim S, Pop L, Toader O. First-trimester screening-biomarkers and cell-free DNA. J Matern Fetal Neonatal Med. 2019;[Epub ahead of print]. doi: 10.1080/14767058.2019.1698031.
  • Aghaz F, Ojagh SZ, Khanjari S, Vaisi-Raygani A, Khazaei M, Bakhtiari M. The contingent prenatal screening test for down's syndrome and neural tube defects in west of Iran. J Reprod Infertil. 2019;20(4):244-51.
  • Chen Y, Yu Q, Mao X, Lei W, He M, Lu W. Noninvasive prenatal testing for chromosome aneuploidies and sub-chromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features. Hum Genomics. 2019;13(1):60.
  • Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2017;9:CD003252.
  • Cederholm M, Haglund B, Axelsson O. Maternal complications following amniocentesis and chorionic villus sampling for prenatal karyotyping. BJOG. 2003;110(4):392-9.
  • Carlson LM, Vora NL. Prenatal diagnosis: screening and diagnostic tools. Obstet Gynecol Clin North Am. 2017;44(2):245-56.
  • Schmidt W, Gabelmann J, Müller U, Voigtländer T, Hager HD, Schroeder TM, et al. Genetic amniocentesis: technique and results in 1,000 first trimester amniocentesis. Geburtshilfe Frauenheilkd. 1980;40(9):761-8.
  • Kazy Z, Rozovsky IS, Bakharev VA. Chorion biopsy in early pregnancy: a method of early prenatal diagnosis for inherited disorders. Prenat Diagn. 1982;2(1):39-45.
  • Odabaşı AR, Yüksel H, Demircan Sezer S, Temoçin K, Bal F, Yapıcı S, et al. The results of second trimester genetic amniocentesis procedure: Adnan Menderes University experience with the results of 22 centers in Turkey. Türkiye Klinikleri J Gynecol Obst. 2007,17(3):196-206.
  • Bilen E, Yüksel M, Sezik M, Köse SA, Tola EN. Chorion villus sampling for karyotyping at 11-14 weeks of gestation: Evaluation of 42 cases. SDÜ Sağlık Bilimleri Dergisi. 2015;6(1):1-3.
  • Öztürk FH, Öcal FD, Erol SA, Yakut K, Öztürk M, Oguz Y, et al. Fetal genetic diagnosis by chorionic villus sampling: evaluation of the five-year experience from a single center. Fetal Pediatr Pathol. 2020;[Epub ahead of print]. doi: 10.1080/15513815.2019.1707919.
  • Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. BJOG 2003;110(3):281-6.
  • Medical Research Council European trial of chorion villus sampling. MRC working party on the evaluation of chorion villus sampling. Lancet. 1991;337(8756):1491-9.
  • Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16-26.
  • Dağlar HK, Kaya B, Şahin HÖ, Pınar MF, Akıl A. Retrospective analysis of 268 cases of amniocentesis and chorion villus sampling. Perinatal Journal. 2011;19(3):130-6.
  • Öztaş E, Özler S, Bakır A, Savaşçıoğlu Keskin İ, Uygur D. Results and experience of CVS in our clinic: three years analysis. İKSST Derg. 2016;8(2):81-7.
  • Tseng JJ, Chou MM, Lo FC, Lai HY, Chen MH, Ho ES. Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995-2004. Taiwan J Obstet Gynecol. 2006;45(1):39-41.
  • Şener KT, Durak B, Tanır HM, Tepeli E, Kaya M, Artan S. Amniocentesis results in 7 years period in our clinic. Perinatal Journal. 2006;14(4):170-5.
  • Yüce H, Çelik H, Gürateş B, Erol D, Hanay F, Elyas H. Retrospective analysis of 356 amniocentesis results performed for karyotype analysis. Perinatal Journal. 2006;14(2):73-6.
  • Yang YH, Ju KS, Kim SB, Cho YH, Lee JH, Lee SH, et al. The Korean collaborative study on 11,000 prenatal genetic amniocentesis. Yonsei Med J. 1999;40(5):460-6.
  • Andrew C, Koshy T, Gopal S, Paul SFD. A retrospective exploratory study of fetal genetic invasive procedures at a University Hospital. J Obstet Gynaecol. 2018;38(7):906-10.
  • ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109(1):217-27.
  • Acar A, Ercan F, Yildirim S, Görkemli H, Gezginç K, Balcı O, et al. Genetic amniocentesis results: analysis of the 3721 cases. Med Bull Sisli Etfal Hosp. 2016;50(1):33-8.
  • Taşdemir Ş, Yılmaz M, Şahin İ, Erdem HB, Al RA, İngeç M, et al. Retrospective analysis of 1429 cases who underwent amniocentesis and cordocentesis. Perinatal Journal. 2014;22(3):138-41.
  • Gunduz C, Cogulu O, Cankaya T, Bora E, Karaca E, Alpman A, et al. Trends in cytogenetic prenatal diagnosis in a reference hospital in İzmir/Turkey: a comparative study for four years. Genetic Couns. 2004;15(1):53-9.
  • Türkyılmaz A, Alp MN, Budak T. Prenatal genetic diagnosis in 481 amniocentesis, chorion villi sample and cordocentesis specimens. Dicle Med J. 2007;34(3):187-90.
  • Serin S, Arıkan DC. Amniocentesis results and retrospective analysis performed in the university clinic. Perinatal Journal. 2013;21(2):47-52.
  • Lostchuck E, Poulton A, Halliday J, Hui L. Population-based trends in invasive prenatal diagnosis for ultrasound-based indications: two decades of change from 1994 to 2016. Ultrasound Obstet Gynecol. 2019;53(4):503-11.
  • Dilek TUK, Pata Ö, Yazıcı G, Arslan M, Tok E, Çayan F, et al. Results and cost-effectiveness analysis of genetic amniocentesis between the 2000 and 2005. J Turk Ger Gynecol Assoc. 2005;6(4):285-9.
  • Turhan NO, Eren U, Seckin NC. Second-trimester genetic amniocentesis: 5-year experience. Arch Gynecol Obstet. 2005;271(1):19-21.
  • Stoll C, Dott B, Alembik Y, Roth MP. Evalution of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population. Hum Genet. 1993;91(1):37-41.
  • Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol. 2006;108(5):1067-72.
  • Fu F, Li R, Li Y, Nie ZQ, Lei T, Wang D, et al. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. Ultrasound Obstet Gynecol. 2018;51(4):493-502.
  • Dallaire L, Michaud J, Melancon SB, Potier M, Lambert M, Mitchell G, et al. Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk. Prenat Diagn. 1991;11(6):629-35.
  • Geppert J, Stinton C, Johnson S, Clarke A, Grammatopoulos D, Taylor-Phillips S. Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: A systematic review and meta-analysis. Prenat Diagn. 2019;[Epub ahead of print]. doi: 10.1002/pd.5621.
  • Goldwaser T, Klugman S. Cell-free DNA for the detection of fetal aneuploidy. Fertil Steril. 2018;109(2):195-200.

Van ve Çevresinde Bulunan Türkiye’nin Doğu İllerindeki Prenatal Genetik Test Sonuçları

Year 2020, Volume: 22 Issue: 1, 7 - 12, 30.04.2020
https://doi.org/10.18678/dtfd.631734

Abstract

Amaç: Bu çalışmanın amacı, Sağlık Bilimleri Üniversitesi Van Eğitim ve Araştırma Hastanesi Perinatoloji Kliniğinde gerçekleştirilen amniyosentez ve koryon villus örneklemelerinin endikasyon ve karyotip sonuçlarının retrospektif olarak değerlendirilmesidir.
Gereç ve Yöntemler: Bu çalışmada, Mart 2017 ve Mart 2019 tarihleri arasında perinatoloji kliniğimizde çeşitli endikasyonlar ile amniyosentez uygulanan 157 hasta ve koryon villus örnekleme işlemi yapılan 58 hasta geriye dönük olarak incelendi. Amniyosentez işlemi için 22 Gauge spinal iğne ve koryon villus örneklemesi için ise 20 Gauge spinal iğne kullanıldı.
Bulgular: Amniyosentez yapılan olguların %14,6’sında (n=23) ve koryon villus örneklemesi yapılan vakaların ise %34,5’inde (n=20) genetik anomali saptandı. Amniyosentez sonucunda saptanan kromozom anomalilerinin 20’si (%87.0) ve koryon villus örneklemesi sonucunda saptanan anomalilerin ise 18’i (%90,0) sayısal anomali idi. Bu sayısal anomaliler arasında en sık saptanan kromozom anomalisi trizomi 21 idi. Amniyosentez ve koryon villus örneklemesi yapılan hastalarda en sık endikasyon anormal ultrason bulguları olup bu endikasyonu üçlü veya dörtlü testte risk yüksekliği takip etmekte idi.
Sonuç: Amniyosentez ve koryon villus örneklemesi, genetik hastalıkların prenatal tanısında sıklıkla kullanılan invaziv yöntemlerdir. Kliniğimizde amniyosentez ve koryon villus örnekleme endikasyonları ile örneklere uygulanan genetik analiz sonucu saptanan genetik anomali oranı literatür ile uyumlu idi. Bu çalışmanın, Van ve çevre illerdeki amniyosentez ve koryon villus örnekleme sonuçlarının değerlendirildiği ilk çalışma olması nedeniyle literatüre katkı sağlayacağı düşünülmektedir.

References

  • Nussbaum RL, McInnes RR, Willard HF. Thompson and Thompson genetics in medicine. 6th ed. Philadelphia: Saunders; 2001.
  • Aksoy S. Antenatal screening and its possible meaning from unborn baby’s perspective. BMC Med Ethics. 2001;2:E3.
  • Suciu I, Galeva S, Abdel Azim S, Pop L, Toader O. First-trimester screening-biomarkers and cell-free DNA. J Matern Fetal Neonatal Med. 2019;[Epub ahead of print]. doi: 10.1080/14767058.2019.1698031.
  • Aghaz F, Ojagh SZ, Khanjari S, Vaisi-Raygani A, Khazaei M, Bakhtiari M. The contingent prenatal screening test for down's syndrome and neural tube defects in west of Iran. J Reprod Infertil. 2019;20(4):244-51.
  • Chen Y, Yu Q, Mao X, Lei W, He M, Lu W. Noninvasive prenatal testing for chromosome aneuploidies and sub-chromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features. Hum Genomics. 2019;13(1):60.
  • Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2017;9:CD003252.
  • Cederholm M, Haglund B, Axelsson O. Maternal complications following amniocentesis and chorionic villus sampling for prenatal karyotyping. BJOG. 2003;110(4):392-9.
  • Carlson LM, Vora NL. Prenatal diagnosis: screening and diagnostic tools. Obstet Gynecol Clin North Am. 2017;44(2):245-56.
  • Schmidt W, Gabelmann J, Müller U, Voigtländer T, Hager HD, Schroeder TM, et al. Genetic amniocentesis: technique and results in 1,000 first trimester amniocentesis. Geburtshilfe Frauenheilkd. 1980;40(9):761-8.
  • Kazy Z, Rozovsky IS, Bakharev VA. Chorion biopsy in early pregnancy: a method of early prenatal diagnosis for inherited disorders. Prenat Diagn. 1982;2(1):39-45.
  • Odabaşı AR, Yüksel H, Demircan Sezer S, Temoçin K, Bal F, Yapıcı S, et al. The results of second trimester genetic amniocentesis procedure: Adnan Menderes University experience with the results of 22 centers in Turkey. Türkiye Klinikleri J Gynecol Obst. 2007,17(3):196-206.
  • Bilen E, Yüksel M, Sezik M, Köse SA, Tola EN. Chorion villus sampling for karyotyping at 11-14 weeks of gestation: Evaluation of 42 cases. SDÜ Sağlık Bilimleri Dergisi. 2015;6(1):1-3.
  • Öztürk FH, Öcal FD, Erol SA, Yakut K, Öztürk M, Oguz Y, et al. Fetal genetic diagnosis by chorionic villus sampling: evaluation of the five-year experience from a single center. Fetal Pediatr Pathol. 2020;[Epub ahead of print]. doi: 10.1080/15513815.2019.1707919.
  • Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. BJOG 2003;110(3):281-6.
  • Medical Research Council European trial of chorion villus sampling. MRC working party on the evaluation of chorion villus sampling. Lancet. 1991;337(8756):1491-9.
  • Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16-26.
  • Dağlar HK, Kaya B, Şahin HÖ, Pınar MF, Akıl A. Retrospective analysis of 268 cases of amniocentesis and chorion villus sampling. Perinatal Journal. 2011;19(3):130-6.
  • Öztaş E, Özler S, Bakır A, Savaşçıoğlu Keskin İ, Uygur D. Results and experience of CVS in our clinic: three years analysis. İKSST Derg. 2016;8(2):81-7.
  • Tseng JJ, Chou MM, Lo FC, Lai HY, Chen MH, Ho ES. Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995-2004. Taiwan J Obstet Gynecol. 2006;45(1):39-41.
  • Şener KT, Durak B, Tanır HM, Tepeli E, Kaya M, Artan S. Amniocentesis results in 7 years period in our clinic. Perinatal Journal. 2006;14(4):170-5.
  • Yüce H, Çelik H, Gürateş B, Erol D, Hanay F, Elyas H. Retrospective analysis of 356 amniocentesis results performed for karyotype analysis. Perinatal Journal. 2006;14(2):73-6.
  • Yang YH, Ju KS, Kim SB, Cho YH, Lee JH, Lee SH, et al. The Korean collaborative study on 11,000 prenatal genetic amniocentesis. Yonsei Med J. 1999;40(5):460-6.
  • Andrew C, Koshy T, Gopal S, Paul SFD. A retrospective exploratory study of fetal genetic invasive procedures at a University Hospital. J Obstet Gynaecol. 2018;38(7):906-10.
  • ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109(1):217-27.
  • Acar A, Ercan F, Yildirim S, Görkemli H, Gezginç K, Balcı O, et al. Genetic amniocentesis results: analysis of the 3721 cases. Med Bull Sisli Etfal Hosp. 2016;50(1):33-8.
  • Taşdemir Ş, Yılmaz M, Şahin İ, Erdem HB, Al RA, İngeç M, et al. Retrospective analysis of 1429 cases who underwent amniocentesis and cordocentesis. Perinatal Journal. 2014;22(3):138-41.
  • Gunduz C, Cogulu O, Cankaya T, Bora E, Karaca E, Alpman A, et al. Trends in cytogenetic prenatal diagnosis in a reference hospital in İzmir/Turkey: a comparative study for four years. Genetic Couns. 2004;15(1):53-9.
  • Türkyılmaz A, Alp MN, Budak T. Prenatal genetic diagnosis in 481 amniocentesis, chorion villi sample and cordocentesis specimens. Dicle Med J. 2007;34(3):187-90.
  • Serin S, Arıkan DC. Amniocentesis results and retrospective analysis performed in the university clinic. Perinatal Journal. 2013;21(2):47-52.
  • Lostchuck E, Poulton A, Halliday J, Hui L. Population-based trends in invasive prenatal diagnosis for ultrasound-based indications: two decades of change from 1994 to 2016. Ultrasound Obstet Gynecol. 2019;53(4):503-11.
  • Dilek TUK, Pata Ö, Yazıcı G, Arslan M, Tok E, Çayan F, et al. Results and cost-effectiveness analysis of genetic amniocentesis between the 2000 and 2005. J Turk Ger Gynecol Assoc. 2005;6(4):285-9.
  • Turhan NO, Eren U, Seckin NC. Second-trimester genetic amniocentesis: 5-year experience. Arch Gynecol Obstet. 2005;271(1):19-21.
  • Stoll C, Dott B, Alembik Y, Roth MP. Evalution of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population. Hum Genet. 1993;91(1):37-41.
  • Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol. 2006;108(5):1067-72.
  • Fu F, Li R, Li Y, Nie ZQ, Lei T, Wang D, et al. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. Ultrasound Obstet Gynecol. 2018;51(4):493-502.
  • Dallaire L, Michaud J, Melancon SB, Potier M, Lambert M, Mitchell G, et al. Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk. Prenat Diagn. 1991;11(6):629-35.
  • Geppert J, Stinton C, Johnson S, Clarke A, Grammatopoulos D, Taylor-Phillips S. Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: A systematic review and meta-analysis. Prenat Diagn. 2019;[Epub ahead of print]. doi: 10.1002/pd.5621.
  • Goldwaser T, Klugman S. Cell-free DNA for the detection of fetal aneuploidy. Fertil Steril. 2018;109(2):195-200.
There are 38 citations in total.

Details

Primary Language English
Subjects Clinical Sciences
Journal Section Research Article
Authors

Emine Göktaş 0000-0002-3635-8763

Reyhan Ayaz 0000-0002-2617-7918

Publication Date April 30, 2020
Submission Date October 10, 2019
Published in Issue Year 2020 Volume: 22 Issue: 1

Cite

APA Göktaş, E., & Ayaz, R. (2020). Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey. Duzce Medical Journal, 22(1), 7-12. https://doi.org/10.18678/dtfd.631734
AMA Göktaş E, Ayaz R. Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey. Duzce Med J. April 2020;22(1):7-12. doi:10.18678/dtfd.631734
Chicago Göktaş, Emine, and Reyhan Ayaz. “Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey”. Duzce Medical Journal 22, no. 1 (April 2020): 7-12. https://doi.org/10.18678/dtfd.631734.
EndNote Göktaş E, Ayaz R (April 1, 2020) Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey. Duzce Medical Journal 22 1 7–12.
IEEE E. Göktaş and R. Ayaz, “Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey”, Duzce Med J, vol. 22, no. 1, pp. 7–12, 2020, doi: 10.18678/dtfd.631734.
ISNAD Göktaş, Emine - Ayaz, Reyhan. “Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey”. Duzce Medical Journal 22/1 (April 2020), 7-12. https://doi.org/10.18678/dtfd.631734.
JAMA Göktaş E, Ayaz R. Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey. Duzce Med J. 2020;22:7–12.
MLA Göktaş, Emine and Reyhan Ayaz. “Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey”. Duzce Medical Journal, vol. 22, no. 1, 2020, pp. 7-12, doi:10.18678/dtfd.631734.
Vancouver Göktaş E, Ayaz R. Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey. Duzce Med J. 2020;22(1):7-12.