İnönü Üniversitesi Tıp Fakültesi Tıbbi Biyoloji ve Genetik Anabilim Dalı Laboratuvarı’nda Doğum Öncesi Tanı Çalışmalarının İki Yıllık Değerlendirmesi

Abstract (Original Language): 
Amaç: Bu çalışmada, İnönü Üniversitesi Tıp Fakültesi Tıbbi Biyoloji ve Genetik Anabilim Dalı Laboratuvarına Ekim 2005-Ağustos 2007 tarihleri arasında yönlendirilen 328 olguya ait doğum öncesi tanı değerlendirmelerimiz sunulmaktadır. Gereç ve Yöntem: 311 amniyosentez sıvısı, 17 fetal kan örneği olmak üzere 328 olguya ait sitogenetik analiz sonuçları değerlendirilmiştir. Amniyosentez ve fetal kan örneğine ilişkin tanı endikasyonlarını üçlü tarama testinde risk belirlenmesi, ileri anne yaşı ve ailede anomalili bebek öyküsü oluşturmuştur. Bulgular: Toplam 328 olgunun karyotip analizi yapılmıştır. Bunların arasında kromozom anomali oranı en yüksek olan grup amniyosentez grubudur, 5 olguda (%1.60) sayısal kromozom anomalisi ve 2 olguda (%0.64) yapısal kromozom anomalisi saptanmıştır. Bu olguların biri Turner sendromu (%0.32), 4’ü ise trizomi 21 (%1.28)’dir. Yapısal anomaliler ise 1 olguda Y kromozomunda heterokromatin bölge artışı (%0.64) ve 1 olguda Robertsonian translokasyon olarak belirlenmiştir (%0.64). Fetal kan örneğinde yapılan kromozom analizi sonucunda ise 2 olguda trizomi 21 (%11.76) 1 olguda ise 46,XX/46,XY belirlenmiştir. Sonuç: Kromozom anomalisi saptanan olgularda kromozom anomalisi ile endikasyon ilişkisi değerlendirildiğinde ileri anne yaşı ile uyumluluk olduğu gözlenmiştir.
Abstract (2. Language): 
Objectives: In this study, we investigate fetal chromosome analysis results of 328 cases referred to Medical Biology and Genetic Department Laboratory, İnönü University between October 2005-August 2007 period. Methods: 311 amniocentesis and 17 fetal blood sample include 328 cases examined cytogenetic finding. The main indications for amniocentesis and fetal blood sample included advanced maternal age, abnormal maternal serum screening results, and abnormal children story findings. Results: A total of 328 cases were performed and analyzed for chromosome aberrations. Among these, the highest detection rate of chromosome aberrations were amniocentesis, 5 (1.60%) cases with numerical aberrations, one case with Turner syndrome (0.32%), four cases with trisomy 21 (1.28%) and 2 (0.64%) cases with structural aberrations, one case with Y chromosome heterochromatin polymorphism (0.64%), and one case with Robertsonian translocation (0.64%). Among fetal blood samples, there were 2 (11.76%) cases with chromosomal aberrations, and one case with 46,XX/46,XY. Conclusions: In our observations, in concordant with literature cases with chromosome aberrations were related with advantage maternal age.
References: 

1. Aksoy F. Konjenital anomaliler: Tanımlama, sınıflama, terminoloji ve anomalili
fetusun incelenmesi.Türk Patoloji Dergisi 2001;17: 57-62.
2. Summers AM, Langlois S, Wyatt P, Wilson RD. Prenatal screening for fetal
aneuploidy. Society of Obstetricians and Gynaecologists of Canada.J Obstet
Gynaecol Can.2007 Feb;29(2):146-79.
3. Park S, Lee BY, Kim YM, et al.. De novo chromosomal aberrations in the fetus;
genetic counseling and clinical outcome. J Korean Med Sci. 2003;18: 397-401.
4. 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.
5. 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 Mar;45(1):39-41.
6. Nelson M. M,Emery A. E. H. Amniotic Fluid Cells; Prenatal Sex Prediction and
Culture. Journal List > Br Med J > v.1(5695); Feb 28, 1970 Br Med J. 1970
February 28; 1(5695): 523–6.
7. Sangalli M, Langdana F, Thurlow C. Pregnancy loss rate following routine genetic
amniocentesis at Wellington Hospital. N Z Med J. 2004 Apr 2;117(1191):U818.
8. Fang Q, You Z, Wang C, Chen J, Su X, Zhang X. [Analysis of chromosomal
karyotypes in 300 fetal blood samples during the second and third trimesters
ofgestation].2000Feb;17(1):16-9.
9. Liao C, Wei J, Li Q, Li L, Li J, Li D. Efficacy and safety of cordocentesis for
prenatal diagnosis Int J Gynaecol Obstet. 2006 Apr;93(1):13-7. Epub 2006 Mar
10.
10. Mahieu-Caputo D, Senat MV, Romana S, Houfflin-Debarge V, Gosset P,
Audibert F, Bessis R, Ville Y, Vekemans M, Dommergues M. [What’s new in
fetal medicine?]. Arch Pediatr. 2002 Feb;9(2):172-86.
11. Hoehrın H, Bryant EM, Karp LE, Martin GM.Cultivated cells from diagnostic
amniocentesis in second trimester pregnancies.I. Clonal morphology and growth
potential. Pediatr res.1974;8:746-54.
12. Moorhead PS,Nowell PC,Mellrnan WJ,Battips DM, Hungertord DA.
Chromosome preparations of leukocytes cultured from human peripheral blood.
Exp Cell Res.1960;20:613-6.
13. Madazlı R, Uludağ S, Şen C, Ocak V. Fetal Down sendromu tanısında üçlü tarama
testinin yeri. Yeni Tıp Dergisi 1995;12:114-8.
14. Türkyılmaz A, Nail Alp M, Budak T. 481 Amniyosentez, koryon villüs biyopsisi
ve kordosentez örneğinin prenatal genetik tanısı. Dicle Tıp Dergisi
2007;34(3):187-90.
15. Cengizoğlu B, Karageyim Y, Kars B, Altundağ M, Turan C, Ünal O. Üç yıllık
dönemdeki amniyosentez sonuçları. Perinatoloji Dergisi 2002; 1: 14-7.
16. Sangalli M, Langdana F, Thurlow C. Pregnancy loss rate following routine genetic
amniocentesis at Wellington Hospital. N Z Med J 2004; 117: 1-5.
17. Preis K, Ciach K, Swiatkowska-Freund M.Correlation between indication for
amniocentesis and the time of its performing. Ginekol Pol. 2004 Oct;75(10):760-
4.
18. Milewczyk P, Lipiński T, Hamela-Olkowska A, Jalinik K, Szczecina R, Czajkowski
K, Zaremba J.[Genetic amniocentesis—characteristic of patients, indications,
outcomes, complications]. Med Wieku Rozwoj. 2003 Jul-Sep;7(3 Suppl 1):321-7.
19. Milewczyk P, Lipiński T, Hamela-Olkowska A, Jalinik K, Czajkowski K, Zaremba
J.[Genetic amniocentesis in the II Department of Obstetrics and Gynecology of
the Medical University of Warsaw]. Ginekol Pol. 2004 Aug;75(8):603-8.
20. Jou HJ, Kuo YS, Hsu JJ, Shyu MK, Hsieh TT, Hsieh FJ. The evolving national
birth prevalence of Down syndrome in Taiwan. A study on the impact of secondtrimester
maternal serum screening. Prenat Diagn. 2005 Aug;25(8):665-70.
21. O’Nualláin S, Flanagan O, Raffat I, Avalos G, Dineen B. The prevalence of
Down syndrome in County Galway. Ir Med J. 2007 Jan;100(1):329-31.
22. Karaoguz MY, Bal F, Yakut T, Ercelen NO, Ergun MA, Gokcen AB, Biri AA,
Kimya Y, Urman B, Gultomruk M, Egeli U, Menevse S. Cytogenetic results
of amniocentesis materials: incidence of abnormal karyotypes in the Turkish
collaborative study. Genet Couns. 2006;17(2):219-30.
23. Bahado-Singh R, Shahabi S, Karaca M, Mahoney MJ, Cole L, Oz UA. The
comprehensive midtrimester test: high-sensitivity Down syndrome test. Am J
Obstet Gynecol 2002; 186: 803-8.
24. Rosen DJ, Kedar I, Amiel A, et al.. A negative second trimester triple test and
absence of specific ultrasonographic markers may decrease the need for genetic
amniocentesis in advanced maternal age by 60%. Prenat Diagn 2002;22:59-63.
Savacı ve ark
24
25. Hartnett J, Borgida AF, Benn PA, Feldman DM, DeRoche ME, Egan JF.Cost
analysis of Down syndrome screening in advanced maternal age. J Matern Fetal
Neonatal Med. 2003 Feb;13(2):80-4.
26. Marini T, Sullivan J, Naeem R. Decisions about amniocentesis by advanced
maternal age patients following maternal serum screening may not always
correlate clinically with screening results: need for improvement in informed
consent process. Am J Med Genet. 2002 May 1;109(3):71-5.

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