Yıl: 2020 Cilt: 27 Sayı: 5 Sayfa Aralığı: 1507 - 1513 Metin Dili: İngilizce DOI: 10.5455/annalsmedres.2020.03.247 İndeks Tarihi: 08-10-2020

Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience

Öz:
Aim: The Objective of our study was to evaluate the chromosomal analysis results that were obtained from amniocentesis,cordocentesis and chorionic villus sampling (CVS) inpatients whom had applied to the perinatology unit of Cukurova UniversityFaculty of Medicine gynecology and obstetrics clinic with high risk in terms of chromosome anomaly according to Ultrasonography(USG).Material and Methods: Our study was conducted as a retrospective pattern. CVS, amniocentesis and cordosentesis were performedin 1298 pregnant women whom had applied to the Çukurova University Faculty of Medicine, Gynecology and Obstetrics Clinic,Perinatology Unit in the date interval between 1st December 2014-31st December 2016 with the indication of abnormal maternalserum screening tests, maternal request because of advanced maternal age, history of fetal anomaly with previous pregnancies,history of relatives with Trisomy 21, fetal abnormalities or signs of trisomy which were detected by ultrasonography and onlydepending on maternal request without any risk factors. Data obtained in the study were assessed using the SPSS (StatisticalPackage for Social Sciences) 22.0 package program. The relationships between categorical variables were determined by ChiSquare test. Relationship between normal distribution-matched, numerical data were assessed by ANOVA, Independent Samplet-test, and relationship between non-normal distributions of numerical data were assessed using Mann-Whitney U and WilcoxonTest. Statistical significance level was determined as p <0.05.Results: Fetal anomalies were observed in 28.9% (n: 366) of the patients while 369 (28.4%) of the 1298 patients who had prenataldiagnosis had abnormalities in the maternal screening results. No chromosomal abnormalities were detected in 1120 (86.2%) of the1298 patients who were taken into the study. 49 patients had Trisomy 21, 27 patients had Trisomy18 and 14 patients had Trisomy13.Turner syndrome was seen in 10 of thepatients. In our study, chromosomal abnormality rate of patients with more than one minormarker was found to be statistically significant (p: 0.01). Chromosomal anomaly was detected in 319 (8.4%) of 349 patients withcombined test. Chromosomal anomaly was detected in 70 (19.1%) of the 366 patients who detected fetal anomaly. Chromosomalanomaly was detected in 27 (24.1%) of the 112 increased NT patients.Conclusion: In our study, 1298 invasive procedures are listed as follows; amniocentesis was performed in 841 (64.8%), cordocentesisin 57 patients (4.4%) and CVS in 400 patients (30.8%). As a result of karyotype analysis of the patients, nochromosomal anomaly wasdetected in 1120 patients (86.28%). In 178 patients, chromosomal anomaly (13.71%) was detected. This study aimed to determinethe prevalence of fetal chromosomal anomaly in the Mediterranean region by determining the prevalence of invasive prenatal testindications and evaluating the results of invasive prenatal tests performed in our clinic in the 2-year period.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Christian EA, Jin DL, Attenello F, et al. Trends in hospitalization of preterm infants with intraventricular hemorrhage and hydrocephalus in the United States, 2000–2010. Journal of Neurosurgery: Pediatrics 2016;17:260-9.
  • 2. Cunningham FG, Leveno KJ, Bloom SL, et al. Williams Obstetrics 24th edition. New York: McGraw-Hill Education, p.286
  • 3. Cicero S, Bindra R, Rembouskos G, et al. Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free β-hCG and PAPP-A at 11 to 14 weeks. Prenatal Diagnosis: Published in Affiliation With the International Society 2003;23:306-10.
  • 4. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genetics in Med 2011;13:913-20.
  • 5. Inan C. Evaluation of Invasive Prenatal Test Indications and Results at a Tertiary Center in the Thrace Region of Turkey. J Clinical Obstetrics & Gynecology 2019;29:8- 16.
  • 6. Farcaş S, Crişan C, Andreescu N, et al. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience. Rom J Morphol Embryol 2013;54:377-83.
  • 7. Anderson CL, Brown CE. Fetal chromosomal abnormalities: antenatal screening and diagnosis. Am Fam Physician 2009;79:117-23.
  • 8. Norton Mary E, Follow-up of sonographically detected soft markers for fetal aneuploidy. Seminars in perinatology; Elsevier Vol. 37. No. 5. California, WB Saunders 2013;365-69.
  • 9. Levy B, Stosic M. Traditional prenatal diagnosis: past to present. In: Prenatal Diagnosis. Humana Press, New York, NY 2019;3-22.
  • 10. Wilson RD, Gagnon A, Audibert F, et al. Prenatal diagnosis procedures and techniques to obtain a diagnostic fetal specimen or tissue: maternal and fetal risks and benefits. J Obstet Gynaecol Can 2015;37:656-68.
  • 11. Ekmekci E, Kurt K, Gencdal S, et al. Prenatal invasive testing: a 4-years single institution experience in Turkey. Gynecology Obstetrics & Reproductive Med 2016;21:123-6.
  • 12. Jacobs M, Cooper S-A, McGowan R, et al.Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies. PloS one. 2016;11(12).
  • 13. 13. Demirhan O, Pazarbası A, Güzel AI, Tastemir D, Yılmaz B, Kasap M, et al. The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women. Genet Test Mol Biomarkers 2011;15:701-7.
  • 14. Erdemoglu M, Kale A. Prospective analysis of 183 cases with amniocentesis for genetic purposes. Dicle Medical J 2007;34:170-5.
  • 15. Yuce H, Celik H, Guratefli B, et al. Retrospective Analysis of 356 Amniocentesis Results Performed for Karyotype Analysis. Perinatal J 2006:73.
  • 16. Nemescu D, Bratie A, Mihaila A, et al. First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study. Ginekologia Polska 2018;89:206- 11.
  • 17. Han SH, An JW, Jeong GY, et al. Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. Korean J Lab Med 2008;28:378-85.
  • 18. Mademont-Soler I, Morales C, Clusellas N, et al. Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade. Eur J Obstet Gynecol Reprod Biol 2011;157:156-60.
  • 19. Ocak Z, Ozlu T, Yazıcıoglu HF, et al. Clinical and cytogenetic results of a large series of amniocentesis cases from T urkey: Report of 6124 cases. J Obstet Gynaecol Res 2014;40:139-46.
  • 20. Zhang S, Yin M, Xu JZ, et al. Cytogenetic analysis for fetal chromosomal abnormalities by amniocentesis: Review of over 40,000 consecutive cases in a single center. Reproductive and Developmental Med 2017;1:84.
  • 21. Inan C. Evaluation of Invasive Prenatal Test Indications and Results at a Tertiary Center in the Thrace Region of Turkey. J Clinical Obstetrics & Gynecology. 2019;29:8- 16.
  • 22. Daniilidis A, Karydas H, Zournatzi V, et al. four-year retrospective study of amniocentesis: one centre experience. Hippokratia 2008;12:113.
  • 23. Erdemoglu M, Kale A, Akdeniz N. Prenatal tanı amacıyla kordosentez uygulanan 172 olgunun değerlendirilmesi. Dicle Tıp Dergisi 2007;34:7-13.
  • 24. An N, Li L, Wang R, et al. Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases. Genet Mol Res 2015;14:15660-7.
  • 25. Wenstrom KD, Williamson RA, Grant SS, et al.Evaluation of multiple-marker screening for Down syndrome in a statewide population. Am J Obstet Gynecol 1993;169:793-7.
  • 26. Chaabouni H, Chaabouni M, Maazoul F, et al. Prenatal diagnosis of chromosome disorders in Tunisian population. Ann Genet (Elsevier) 2001.
  • 27. Xiao H, Yang Y, Zhang C, et al. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis. J Obstetrics and Gynaecology. 2016;36:293-6.
  • 28. Tao H, Xiao J, Yang C, et al. Retrospective analysis of 4761 cases who underwent amniocentesis in southeast China. J Obstetrics and Gynaecology. 2018;38:38-41.
  • 29. Saatci C, Bayramov R, Basbug M, et al. Retrospective evaluation of results of 3617 invasive prenatal diagnosis cases applied between 1997-2015 years. Health Science 2016;25:120-5.
  • 30. Sjogren B, Uddenberg N. Decision making during the prenatal diagnostic procedure. A questionnaire and interview study of 211 women participating in prenatal diagnosis. Prenat Diagn 1988;8:263-73.
  • 31. Milewczyk P, Lipinski T, Hamela-Olkowska A, et al. [Genetic amniocentesis in the II Department of Obstetrics and Gynecology of the Medical University of Warsaw]. Ginekol Pol 2004;75:603-8.
  • 32. Yayla M, Bayhan G, Yalinkaya A, et al. Second Trimester Genetic Amniocentesis in High Risk Pregnancies: Clinical Evaluation of 165 Cases. Perinatal J 1999;7:40-6.
  • 33. Cengizoglu B, Karageyim Y, Kars B, et al. Detection Of Chromosomal Abnormalities In The Second Trimester Using Genetic Amniocentesis For Advanced Maternal Age: Three Years Experience,. Perinatal J 2002;1:14-7.
  • 34. Yuce H, Celik H, Guratefl B, et al.Retrospective analysis of 356 cases undergoing genetic amniocentesis for karyotype analysis. Perinatal J 2006;14:73-6.
  • 35. Rizzo N, Pittalis MC, Pilu G, et al.Prenatal karyotyping in malformed fetuses. Prenat Diagn 1990;10:17-23.
  • 36. Dallaire L, Michaud J, Melancon SB, 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;11:629-35.
  • 37. Stoll C, Dott B, Alembik Y, et al. Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population. Hum Genet 1993;91:37-41.
  • 38. Hsieh FJ, Ko TM, Tseng LH, et al. Prenatal cytogenetic diagnosis in amniocentesis. J Formos Med Assoc 1992;91:276-82.
  • 39. Rafioglu G, Evaluation of Indications and Results of Amniocentesis for Chromosomal Analysis in Prenatal Diagnosis, Ministry of Health Istanbul Bakırkoy Education and Research Hospital 2007.
  • 40. Ekin A, Gezer C, Taner C, et al. Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience. J Obstetrics and Gynaecology. 2014;34:571-5.
  • 41. Toker F, Activities In The Aneuploid Forecast Of Ultrasonographic, Laboratory And Anamnestic Risk Factors In High Risk Pregnancy Population, Ministry of Health Istanbul Education and Research Hospital 2009.
APA Boso B, Soysal C, Sucu M, Demir S (2020). Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. , 1507 - 1513. 10.5455/annalsmedres.2020.03.247
Chicago Boso Banu,Soysal Cenk,Sucu Mete,Demir Suleyman Cansun Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. (2020): 1507 - 1513. 10.5455/annalsmedres.2020.03.247
MLA Boso Banu,Soysal Cenk,Sucu Mete,Demir Suleyman Cansun Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. , 2020, ss.1507 - 1513. 10.5455/annalsmedres.2020.03.247
AMA Boso B,Soysal C,Sucu M,Demir S Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. . 2020; 1507 - 1513. 10.5455/annalsmedres.2020.03.247
Vancouver Boso B,Soysal C,Sucu M,Demir S Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. . 2020; 1507 - 1513. 10.5455/annalsmedres.2020.03.247
IEEE Boso B,Soysal C,Sucu M,Demir S "Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience." , ss.1507 - 1513, 2020. 10.5455/annalsmedres.2020.03.247
ISNAD Boso, Banu vd. "Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience". (2020), 1507-1513. https://doi.org/10.5455/annalsmedres.2020.03.247
APA Boso B, Soysal C, Sucu M, Demir S (2020). Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. Annals of Medical Research, 27(5), 1507 - 1513. 10.5455/annalsmedres.2020.03.247
Chicago Boso Banu,Soysal Cenk,Sucu Mete,Demir Suleyman Cansun Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. Annals of Medical Research 27, no.5 (2020): 1507 - 1513. 10.5455/annalsmedres.2020.03.247
MLA Boso Banu,Soysal Cenk,Sucu Mete,Demir Suleyman Cansun Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. Annals of Medical Research, vol.27, no.5, 2020, ss.1507 - 1513. 10.5455/annalsmedres.2020.03.247
AMA Boso B,Soysal C,Sucu M,Demir S Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. Annals of Medical Research. 2020; 27(5): 1507 - 1513. 10.5455/annalsmedres.2020.03.247
Vancouver Boso B,Soysal C,Sucu M,Demir S Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience. Annals of Medical Research. 2020; 27(5): 1507 - 1513. 10.5455/annalsmedres.2020.03.247
IEEE Boso B,Soysal C,Sucu M,Demir S "Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience." Annals of Medical Research, 27, ss.1507 - 1513, 2020. 10.5455/annalsmedres.2020.03.247
ISNAD Boso, Banu vd. "Chromosome analysis results of first-second trimester anomaly screening tests: Single center experience". Annals of Medical Research 27/5 (2020), 1507-1513. https://doi.org/10.5455/annalsmedres.2020.03.247