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2. TRİMESTER GENETİK TARAMA AMNİYOSENTEZ 1586 OLGUNUN DEĞERLENDİRİLMESİ

Year 2012, Volume: 19 Issue: 4, 144 - 147, 30.12.2012

Abstract

ÖZET
Amaç: Amniyosentez girişimlerindeki endikasyonların dağılımı, yaşa göre oranları, girişim işlemleri, hücre kültür sonuçları incelenmektedir.
Materyal ve method: Şubat 2003 - Aralık 2011 tarihleri arasında Süleyman Demirel Üniversitesi Tıp Fakültesi Kadın Hastalıkları ve Doğum kliniğinde yüksek riskli gebeliklerde karyotip amaçlı yapılan amniyosentez sonuçları retrospektif olarak değerlendirilmiştir.
Bulgular: 1586 olgu incelendi. Hastaların yaş aralığı 19–24 yaş % 8 (132/1586), 25–30 yaş % 13 (217/1586), 31–35 yaş % 24 (389/1586), 36–40 yaş % 36 (574/1586), 41–44 yaş % 17 (274/1586) oranında saptandı. Amniyosentezin 15–22 haftalar (17,2±1,4) arasında yapıldığı görüldü. Kromozomal anomali % 3,65 (58/1586) hastada görüldü. Trizomi 21 (Down sendromu) % 1,1 (18/1586) olarak belirlendi. Down sendromu saptanan hastalar 32, 43 yaşları arasında idi. Amniyosentez sonrasında gebelik kaybı % 0,6 (11/1586) olarak saptandı.
Sonuçlar: Anomali saptanan olgulara genetik danışmanlık hizmeti verilmiştir.
Anahtar Kelimeler: Amniyosentez, Genetik, Kromozomal Anomali, Down Sendromu, Genetik Danışmanlık

ABSTRACT
Objective: The distribution of indications for amniocentesis attempts, rates by age, intervention methods, cell culture results are analyzed.
Material and Methods: Amniocentesis performed for karyotyping in high risk pregnancies in department of Obstetrics and Gynecology, Süleyman Demirel University between 2003 and 2011 are investigated retrospectively.
Results: 1586 cases are evaluated. Age of 19–24 8 % (132/1586), age of 25–30 13 % (217/1586), age of 31–35 % 24 (389/1586), age of 36–40 % 36 (574/1586), age of 41–44 % 17 (274/1586) was determined. 15-22 weeks of amniocentesis (17.2 ± 1.4) were made between. 3.65 % of chromosomal abnormalities (58/1586) of the patients had. Trisomy 21 (Down Syndrome) 1.1 % (18/1586) was determined. The patients with Down syndrome, 32 and 43years of age. 0,6 % (11/1586) pregnancy loss after amniocentesis
Conclusion: Genetic counseling is provided for all cases.
Key Words: Amniocentesis, Genetic, Chromosomal Abnormality, Genetic Counseling

References

  • Deparpment of Obstetrics ang Gynaecology Tietung Hospital of Anshan Iron and Steel Company: Fetal sex Prediction by chromatin of chorionic villi cells during early pregnancy. Chin Med 1975;1:117-26.
  • ACOG committee opinion. No. 296. First trimester screening for fetal aneuploidy. Obstet Gynecol 2004;104:215-217
  • National Collaborating Centre for women’s and Children’s Health. Antenatal Care: Routine Care for t h e H e a l t h y p r e g n a n t w o m a n , 2003http://www.rcog.org.uk/resources/Public/pdf/A ntenatal_care.pdff
  • Biggio JR. First trimester ultrasound screening for fetal aneuploidy and middle cerebral artery Doppler assessment for fetal alloimmunization. Curr Opin Pediatr. 2005;17(6):713-9
  • Eddleman KA, Malone FD,Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y. Pregnancy loss rates after m i d t r i m e s t e r a m n i o c e n t e s i s . O b s t e t Gynaecol.2006;108(5):1067-72.
  • Cederholm M, Haglund B, Axelsson O. Maternal complications following amnicentesis and chrorionic villus sampling for prenatal karyityping. Br J Obstet Gynaecol.2003;110(4):392-9.
  • Gilbert RE, Augood C, Gupta R, Ades AE, Logan S, Sculpher M. Screening for Down’s syndrome:effects, safety and cost effectiveness of first and second trimester strategiess. BMJ.2001;25;323(7310):423-5.
  • Wald NJ, George L, Smith D, Densem JW, Petterson K. Serum screening for Down’s syndrome between 8 and 14 weeks of pregnancy. International Prenatal Screening Research Group. Br J Obstet Gynaecol.1996;103(5)407-12.
  • Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal- translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998;352:343-346
  • Benn PA. Advances in prenatal screening for Down syndrome: II first trimester testing,integrated testing, and future directions. Clin Chim Acta 2002;324: 1-11
  • 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;110:281-286
  • Sjögren B, Uddenberg N. Decision making during the prenatal diagnostic procedur. A questionnaire and interview study of 211 women partipating in prenatal diagnosis. Prenat Diagn. 1989,9;263-273.
  • Bubb JA, Matthews AL. What’s new in prenatal screening and diagnosis? Prim Care 2004;31:561-82
  • The Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group. Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 1998;24351:242-247
  • Tabor A, Madsen M, Obel E, Philip J, Bang J, Norgaard- Pedersen B: Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986;1:1287–1293.
  • NICHD National Registry for amniocentesis study group: midtrimester amniocentesis for prenatal diagnosis: safety and accuracy.JAMA 1976; 236:1471–1476.
  • Blackwell SC, Abundis MG, Nehra PC. FÝve-year experince with midtrimester amniocentesis performed by a single group of obstetricians-gynecologists at a community hospital. Am J Obstet Gynecol 2002;186(6):1130-2.
  • Marthin T, Liedgren S, Hammar M. Transplacental needle passage and other risk-faktors associated with second trimester amniocentesis. Acta Obstet Gynecol Scand. 1997;76(8):728-32.
Year 2012, Volume: 19 Issue: 4, 144 - 147, 30.12.2012

Abstract

References

  • Deparpment of Obstetrics ang Gynaecology Tietung Hospital of Anshan Iron and Steel Company: Fetal sex Prediction by chromatin of chorionic villi cells during early pregnancy. Chin Med 1975;1:117-26.
  • ACOG committee opinion. No. 296. First trimester screening for fetal aneuploidy. Obstet Gynecol 2004;104:215-217
  • National Collaborating Centre for women’s and Children’s Health. Antenatal Care: Routine Care for t h e H e a l t h y p r e g n a n t w o m a n , 2003http://www.rcog.org.uk/resources/Public/pdf/A ntenatal_care.pdff
  • Biggio JR. First trimester ultrasound screening for fetal aneuploidy and middle cerebral artery Doppler assessment for fetal alloimmunization. Curr Opin Pediatr. 2005;17(6):713-9
  • Eddleman KA, Malone FD,Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y. Pregnancy loss rates after m i d t r i m e s t e r a m n i o c e n t e s i s . O b s t e t Gynaecol.2006;108(5):1067-72.
  • Cederholm M, Haglund B, Axelsson O. Maternal complications following amnicentesis and chrorionic villus sampling for prenatal karyityping. Br J Obstet Gynaecol.2003;110(4):392-9.
  • Gilbert RE, Augood C, Gupta R, Ades AE, Logan S, Sculpher M. Screening for Down’s syndrome:effects, safety and cost effectiveness of first and second trimester strategiess. BMJ.2001;25;323(7310):423-5.
  • Wald NJ, George L, Smith D, Densem JW, Petterson K. Serum screening for Down’s syndrome between 8 and 14 weeks of pregnancy. International Prenatal Screening Research Group. Br J Obstet Gynaecol.1996;103(5)407-12.
  • Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal- translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998;352:343-346
  • Benn PA. Advances in prenatal screening for Down syndrome: II first trimester testing,integrated testing, and future directions. Clin Chim Acta 2002;324: 1-11
  • 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;110:281-286
  • Sjögren B, Uddenberg N. Decision making during the prenatal diagnostic procedur. A questionnaire and interview study of 211 women partipating in prenatal diagnosis. Prenat Diagn. 1989,9;263-273.
  • Bubb JA, Matthews AL. What’s new in prenatal screening and diagnosis? Prim Care 2004;31:561-82
  • The Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group. Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 1998;24351:242-247
  • Tabor A, Madsen M, Obel E, Philip J, Bang J, Norgaard- Pedersen B: Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986;1:1287–1293.
  • NICHD National Registry for amniocentesis study group: midtrimester amniocentesis for prenatal diagnosis: safety and accuracy.JAMA 1976; 236:1471–1476.
  • Blackwell SC, Abundis MG, Nehra PC. FÝve-year experince with midtrimester amniocentesis performed by a single group of obstetricians-gynecologists at a community hospital. Am J Obstet Gynecol 2002;186(6):1130-2.
  • Marthin T, Liedgren S, Hammar M. Transplacental needle passage and other risk-faktors associated with second trimester amniocentesis. Acta Obstet Gynecol Scand. 1997;76(8):728-32.
There are 18 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
Authors

Önder Kaplan

Mehmet Güney

Murat Yüksel

Publication Date December 30, 2012
Submission Date March 20, 2012
Published in Issue Year 2012 Volume: 19 Issue: 4

Cite

Vancouver Kaplan Ö, Güney M, Yüksel M. 2. TRİMESTER GENETİK TARAMA AMNİYOSENTEZ 1586 OLGUNUN DEĞERLENDİRİLMESİ. Med J SDU. 2012;19(4):144-7.

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