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The outcomes of prenatal karyotype analysis in amniocentesis and fetal blood sampling

Year 2011, Volume: 2 Issue: 2, 57 - 59, 01.12.2011

Abstract

Objectives: The aim of this study was to evaluate of fetal chromosome analysis in amniocentesis and fetal
blood sampling cases.
Method: We analysis of 649 cases between January 2007- March 2009 in Dicle University Medical Faculty
Department of Genetic. The study was included 552 amniocentesis and 97 fetal blood sampling cases.
Lymphocyte culture prepared in duplicate and totally ten slides were prepared for each sample. One of the
ten slides was stained with direct Giemsa staining and the others were stained with Giemsa Banding
Technique (GTG Banding). A total of 6490 (649x10) slides were evaluated for diagnosis.
Results: A total of 649 samples were analyzed for chromosome aberrations and 267 (41%) cases had 46 XX,
257 (40 %) cases had 46, XY normal karyotype. Of the cases, 111 (17%) were detected to have abnormality.
Due to cells culture failure, the outcomes of 14 (2%) cases were not obtained (10 amniocentesis and 4 fetal
blood sampling). The indications of karyotype analysis were 36% with higher triple test risk, 28% with
pathologic ultrasound findings, 15% with higher double test risk, 13% with advanced maternal age, 4% with
familial diseases history, 2.5% with parental anxiety and 1.5% with bad obstetric anamnesis, respectively.
We have no false positive and false negative results in our study.
Conclusions: In our study, chromosome aberrations rate (111 (17%)) was found higher than literature, and
the most indication was found higher triple tests. We suggested that karyotype analysis should be considered
in all high risk patients.

References

  • Turhan NO. Eren Ü, Seçkin N.C. Second-trimester genetic amniocentesis: 5-year experience. Arch Gynecol Obstet 2005;271: 19–21.
  • Zhang L. Zhang XH. Liang MY and Ren MH. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant woman. Chinese Medical Journal 2010;123(4):423-430.
  • Tseng JJ. Chou MM. Lo FC et al. Detection of Chromosome Aberrations in the Second Trimester Using Genetic Amniocentesis:Experience During 1995-2004. Taiwanese J Obstet Gynecol 2006;45(1):39–41.
  • Stembalska A. Slezak R. Pesz K. Gil J. Sasiadek M. Prenatal Diagnosis-principles of Diagnostic Procedures and Genetic Coumseling. Folia Histochem Cytobiol 2007;45(1):S11-6.
  • Nussbaum RL. Thompson and Thompson Genetics in Medicine. Six edition, WB.Saunders Company, 2001.
  • Miyake H., Nakai A. Shimada T and Takeshita T. Effect of First-trimester Ultrasound Examination for Chromosomal Aberrations in Women Undergoing Amniocentesis. J. Nippon Med Sch 2006; 72:271-276.
  • Chaabouni H. Chaabouni M. Maazoul F et al. Prenatal Diagnosis of Chromosome Disorders in Tunisian Population. Anneles de Genetique 2001;44(2):99-104.
Year 2011, Volume: 2 Issue: 2, 57 - 59, 01.12.2011

Abstract

References

  • Turhan NO. Eren Ü, Seçkin N.C. Second-trimester genetic amniocentesis: 5-year experience. Arch Gynecol Obstet 2005;271: 19–21.
  • Zhang L. Zhang XH. Liang MY and Ren MH. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant woman. Chinese Medical Journal 2010;123(4):423-430.
  • Tseng JJ. Chou MM. Lo FC et al. Detection of Chromosome Aberrations in the Second Trimester Using Genetic Amniocentesis:Experience During 1995-2004. Taiwanese J Obstet Gynecol 2006;45(1):39–41.
  • Stembalska A. Slezak R. Pesz K. Gil J. Sasiadek M. Prenatal Diagnosis-principles of Diagnostic Procedures and Genetic Coumseling. Folia Histochem Cytobiol 2007;45(1):S11-6.
  • Nussbaum RL. Thompson and Thompson Genetics in Medicine. Six edition, WB.Saunders Company, 2001.
  • Miyake H., Nakai A. Shimada T and Takeshita T. Effect of First-trimester Ultrasound Examination for Chromosomal Aberrations in Women Undergoing Amniocentesis. J. Nippon Med Sch 2006; 72:271-276.
  • Chaabouni H. Chaabouni M. Maazoul F et al. Prenatal Diagnosis of Chromosome Disorders in Tunisian Population. Anneles de Genetique 2001;44(2):99-104.
There are 7 citations in total.

Details

Other ID JA34ZE78KT
Journal Section Research
Authors

Selda Sımsek This is me

Aysegul Turkyılmaz This is me

Diclehan Oral This is me

Ahmet Yalınkaya This is me

Selahattin Tekes This is me

Hilmi Isı This is me

Publication Date December 1, 2011
Published in Issue Year 2011 Volume: 2 Issue: 2

Cite

APA Sımsek, S., Turkyılmaz, A., Oral, D., Yalınkaya, A., et al. (2011). The outcomes of prenatal karyotype analysis in amniocentesis and fetal blood sampling. International Archives of Medical Research, 2(2), 57-59.
AMA Sımsek S, Turkyılmaz A, Oral D, Yalınkaya A, Tekes S, Isı H. The outcomes of prenatal karyotype analysis in amniocentesis and fetal blood sampling. IAMR. December 2011;2(2):57-59.
Chicago Sımsek, Selda, Aysegul Turkyılmaz, Diclehan Oral, Ahmet Yalınkaya, Selahattin Tekes, and Hilmi Isı. “The Outcomes of Prenatal Karyotype Analysis in Amniocentesis and Fetal Blood Sampling”. International Archives of Medical Research 2, no. 2 (December 2011): 57-59.
EndNote Sımsek S, Turkyılmaz A, Oral D, Yalınkaya A, Tekes S, Isı H (December 1, 2011) The outcomes of prenatal karyotype analysis in amniocentesis and fetal blood sampling. International Archives of Medical Research 2 2 57–59.
IEEE S. Sımsek, A. Turkyılmaz, D. Oral, A. Yalınkaya, S. Tekes, and H. Isı, “The outcomes of prenatal karyotype analysis in amniocentesis and fetal blood sampling”, IAMR, vol. 2, no. 2, pp. 57–59, 2011.
ISNAD Sımsek, Selda et al. “The Outcomes of Prenatal Karyotype Analysis in Amniocentesis and Fetal Blood Sampling”. International Archives of Medical Research 2/2 (December 2011), 57-59.
JAMA Sımsek S, Turkyılmaz A, Oral D, Yalınkaya A, Tekes S, Isı H. The outcomes of prenatal karyotype analysis in amniocentesis and fetal blood sampling. IAMR. 2011;2:57–59.
MLA Sımsek, Selda et al. “The Outcomes of Prenatal Karyotype Analysis in Amniocentesis and Fetal Blood Sampling”. International Archives of Medical Research, vol. 2, no. 2, 2011, pp. 57-59.
Vancouver Sımsek S, Turkyılmaz A, Oral D, Yalınkaya A, Tekes S, Isı H. The outcomes of prenatal karyotype analysis in amniocentesis and fetal blood sampling. IAMR. 2011;2(2):57-9.

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