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Evaluation of the cytogenetical results of 4707 cases diagnosed with amniocentesis.

Year 2011, Year: 2011 Volume: 36 Number: 1, 8 - 14, 01.03.2011

Abstract

PURPOSE: Amniocentesis is a very crucial diagnostic procedure for preventing the birth of genetically defective fetuses in order to decrease the prevalence of genetic diseases in populations. METHODS: The karyotyping of 4707 fetuses was carried out in our department during the years of 2000-2009 from the samples of amniotic fluids, CVS, fetal tissues and urines which were sent from departments of Gynecology and Obstetrics of Balcali Hospital and other regional hospitals. RESULTS: The mean maternel and gestational age of pregnant women evaluated for prenatal diagnosis were 29.1 years of age and 18.8 months respectively. Among 4707 fetuses that were karyotyped; 2284 fetuses were males and 2205 fetuses were females and 218 (4.63%) fetuses had various chromosomal abnormalities. Consequently, male to female ratio of fetuses that were examined was 1.03. The advanced maternal age pregnancies followed by positive triplescreening were related to the highest rate of chromosomal abnormalities. The mean age of pregnant women having fetuses with chromosomal abnormalities was found to be 33 years of age which suggest that fetal chromosomal abnormalities were associated with maternal age. Numerical chromosomal abnormalities predominated the structural chromosomal abnormalities (55.5% vs to 44.5%). The numerical chromosomal abnormalities with an incidence of 47.9% trisomy 21, 14.1% trisomy 18, 8.7% Klinefelter Syndrome, 7% monosomy X, 6.6% trisomy 13, 1.7% trisomy X, 1.7% XYY Syndrom, 10% mosaics and the others represented the remaining. Of the structural abnormalities 35% were balanced while the 4% were unbalanced. The frequent structural abnormalities were 25.3% 46,XX/XY, inv(9)(p11;q12) and 19.5% 46,XX/XY, inv(9)(p11;q13). Balanced and unbalanced translocations, deletions and duplications were alsocontributed to chromosomal abnormalities in lesser extent. CONCLUSIONS: Corollary to literature and our findings revealed that the advanced maternal age and certain environmental factors can increase the risk of fetal chromosomal abnormalities. Fetal chromosomal abnormalities representing 4.63% in our study group is crucial and underlines the importance of prenatal diagnosis for healthier pregnancies.

References

  • 1. Akkum Z. Kalıtsal geçiş gösteren hastalıkların prenatal tanısında invaziv yaklaşımlar, amniyosentez ve fetal doku biyopsileri. Jin. Obst. Bülteni. 2000; 4: 51-59.
  • 2. Demirhan O, Karahan D, Tanrıverdi N et al. Detection of parental origin and cell stage errors of a chromosome X polysomy 49,XXXXY and new clinical findings. Balkan J Med Genet, 2009; 12:1, 45-50.
  • 3. Demirhan O, Pazarbaşı A, Suleymanova-Karahan D et al.. Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling: a report of 157 carriers. Saudi Medical Journal, 2008; 29:7, 946-951.
  • 4. Dallaire L, Pinsky L, Kinch RA et al. Prenatal diagnosis in medical genetics. Union Med Can. 1971;100:11, 2213-22.
  • 5. Gosden CM, Davidson C, Robertson M. Prenatal diagnosis and tissue culture. In: Rooney DE, Czepulkowski BH, editors. Human Cytogenetics: A Practical Approach, 2nd ed. IRL Press at Oxford University Pres. 1992; 55-89.
  • 6. Gündüz C, Çoğulu Ö, Cankaya T. Trends in cytogenetic prenatal diagnosis in a reference hospital in İzmir/Turkey: a comparative study for four years. Genetic Couns. 2004; 15: 53-59.
  • 7. Güzel Aİ, Demirhan O, Pazarbaşı A et al. Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. Genet Test Mol Biomarkers. 2009; 13:1, 73-7.
  • 8. Howe DT. Six year survey of screening for Down’s syndrome by maternal age and mid-trimester ultrasound scans. BMJ. 2000; 320: 606-610.
  • 9. ISCN 2005: an international system for human cytogenetic nomenclature: recommendations of the International Standing Committee of Human Cytogenetic Nomenclature. In: Shaffer LG, Tommerup N, Eds. Basel: S. Karger, 2005.
  • 10. Kocun CC, Harrigan JT, Canterino JC et al. Changing trends in patient decisions concerning genetic amniocentesis. Am. J. Obstet Gynecology. 2000; 182:5,1018-20.
  • 11. Kόhler A. Chromosome staining. In: Wegner RD. Ed. Diagnostic Cytogenetics, Springer-Verlag, Berlin, 1999; 56-60.
  • 12. Pazarbaşı A, Demirhan O, Karahan D et al. Prenatal diagnosis of translocation 13;13 Patau sydrome: clinical features of two cases. BJMG, 2008a; 11:1, 67-73.
  • 13. Pazarbaşı A, Demirhan O, Turgut M et al. Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation. Genet Couns. 2008b; 19:3, 301-8.
  • 14. Sandstrom MM, Milunsky A. Prenatal genetic diagnosis. Am Fam Physician, 1977; 15:1, 121-8. 15. Turhan-Öztürk N, Eren Ü, Seçkin NC. Second trimester genetic amniocentesis: 5 year experience. Archives of Gynecology and Obstetrics. 2004; 0635: 9-13.
  • 16. Türkyılmaz A, Budak T. Laboratuvarımıza prenatal tanı için sevk edilen ailelerde endikasyon ve sonuç uygunluklarının değerlendirilmesi. Dicle Tıp Dergisi. 2007; 34: 4, 258-263.

Amniyosentez ile Tanı Konulan 4707 Olgunun Sitogenetik Bulgularının Değerlendirilmesi

Year 2011, Year: 2011 Volume: 36 Number: 1, 8 - 14, 01.03.2011

Abstract

AMAÇ: Amniyosentez, genetik hasarlı çocukların doğumunun engellenmesi ve toplumda genetik hastalıkların sıklığının azaltılması bakımından oldukça önemlidir. YÖNTEM: Sitogenetik laboratuvarımızda 2000-2009 tarihleri arasında kadın hastalıkları polikliniği ile çevre hastaneler tarafından gönderilen 4707 olgunun amniyon sıvısı, koryon villus örneklemesi, fetal idrar ve fetal dokuları kullanılarak karyotip analizleri yapıldı. BULGULAR: Prenatal tanı için kabul edilen gebe annelerin yaş ortalaması 29.1 ve gebelik haftası 18.8’dir. Analizi yapılan toplam 4707 fetüsün 2284’ü erkek ve 2205’i kız karyotipine sahipken (erkek/kız oranı 1.03) 218’ide (%4.63) kromozom düzensizliğine sahipti. Kromozom düzensizliği ileri anne yaşı ile gelen grupta en yüksek bulunurken, üçlü tarama testi riski ile gelen grup bunu izledi. Kromozom düzensizliği saptanan annelerin ortalama yaşı 33 olup yaş ile kromozom düzensizliği arasında doğru orantılı ilişki olduğu saptandı. Kromozom düzensizliği gösteren karyotiplerin %55.5’inin sayısal, %44.5’inin ise yapısal anomaliler olduğu gözlendi. Sayısal anomaliler içinde görülme sıklığı sırasıyla; trizomi 21 (%47.9), trizomi 18 (%14.1), Klinefelter sendromu (%8.7), monozomi X (%7), trizomi 13 (%6.6), trizomi X (%1.7), XYY sendromu (%1.7), mozaikler (%10) ve diğerleri şeklinde olmuştur. Yapısal anomalilerin %35’inin dengeli ve %4’ünün dengesiz olduğu bulundu. Yapısal anomalilerin içerisinde ise en fazla 46,XX/XY,inv(9)(p11;q12) görülmekte olup (%25.3), 46,XX/XY,inv(9)(p11;q13) ise ikinci sırada yer almaktadır (%19.5). Ayrıca, dengeli ve dengesiz translokasyon, delesyon ve duplikasyonlara da rastlandı. YORUM: İleri anne yaşı, yapılan çalışmalara ve bulgularımıza göre kromozom anomalilerinin temel nedenlerinden biridir. Çalışmamızda sayısal kromozom anomalilerinin yüksek bulunması, anne yaşı ile kesin ilişkili olduğunu göstermektedir. Bulgularımıza göre; kromozom anomali oranının %4.63 olması doğum öncesi genetik tanının önemini vurgulamaktadır.

References

  • 1. Akkum Z. Kalıtsal geçiş gösteren hastalıkların prenatal tanısında invaziv yaklaşımlar, amniyosentez ve fetal doku biyopsileri. Jin. Obst. Bülteni. 2000; 4: 51-59.
  • 2. Demirhan O, Karahan D, Tanrıverdi N et al. Detection of parental origin and cell stage errors of a chromosome X polysomy 49,XXXXY and new clinical findings. Balkan J Med Genet, 2009; 12:1, 45-50.
  • 3. Demirhan O, Pazarbaşı A, Suleymanova-Karahan D et al.. Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling: a report of 157 carriers. Saudi Medical Journal, 2008; 29:7, 946-951.
  • 4. Dallaire L, Pinsky L, Kinch RA et al. Prenatal diagnosis in medical genetics. Union Med Can. 1971;100:11, 2213-22.
  • 5. Gosden CM, Davidson C, Robertson M. Prenatal diagnosis and tissue culture. In: Rooney DE, Czepulkowski BH, editors. Human Cytogenetics: A Practical Approach, 2nd ed. IRL Press at Oxford University Pres. 1992; 55-89.
  • 6. Gündüz C, Çoğulu Ö, Cankaya T. Trends in cytogenetic prenatal diagnosis in a reference hospital in İzmir/Turkey: a comparative study for four years. Genetic Couns. 2004; 15: 53-59.
  • 7. Güzel Aİ, Demirhan O, Pazarbaşı A et al. Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. Genet Test Mol Biomarkers. 2009; 13:1, 73-7.
  • 8. Howe DT. Six year survey of screening for Down’s syndrome by maternal age and mid-trimester ultrasound scans. BMJ. 2000; 320: 606-610.
  • 9. ISCN 2005: an international system for human cytogenetic nomenclature: recommendations of the International Standing Committee of Human Cytogenetic Nomenclature. In: Shaffer LG, Tommerup N, Eds. Basel: S. Karger, 2005.
  • 10. Kocun CC, Harrigan JT, Canterino JC et al. Changing trends in patient decisions concerning genetic amniocentesis. Am. J. Obstet Gynecology. 2000; 182:5,1018-20.
  • 11. Kόhler A. Chromosome staining. In: Wegner RD. Ed. Diagnostic Cytogenetics, Springer-Verlag, Berlin, 1999; 56-60.
  • 12. Pazarbaşı A, Demirhan O, Karahan D et al. Prenatal diagnosis of translocation 13;13 Patau sydrome: clinical features of two cases. BJMG, 2008a; 11:1, 67-73.
  • 13. Pazarbaşı A, Demirhan O, Turgut M et al. Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation. Genet Couns. 2008b; 19:3, 301-8.
  • 14. Sandstrom MM, Milunsky A. Prenatal genetic diagnosis. Am Fam Physician, 1977; 15:1, 121-8. 15. Turhan-Öztürk N, Eren Ü, Seçkin NC. Second trimester genetic amniocentesis: 5 year experience. Archives of Gynecology and Obstetrics. 2004; 0635: 9-13.
  • 16. Türkyılmaz A, Budak T. Laboratuvarımıza prenatal tanı için sevk edilen ailelerde endikasyon ve sonuç uygunluklarının değerlendirilmesi. Dicle Tıp Dergisi. 2007; 34: 4, 258-263.
There are 15 citations in total.

Details

Primary Language Turkish
Journal Section Research
Authors

Ayfer Pazarbaşi This is me

Osman Demirhan This is me

Deniz Taşdemir This is me

Erdal Tunç This is me

Fatma Tuncay Özgünen This is me

Davut Alptekin This is me

Cüneyt Evrüke This is me

Cansun Demir This is me

Mülkiye Kasap This is me

Zeynep Karakan Karakaş This is me

Nihal İnandikoğlu This is me

Lütfiye Özpak This is me

Publication Date March 1, 2011
Published in Issue Year 2011 Year: 2011 Volume: 36 Number: 1

Cite

MLA Pazarbaşi, Ayfer et al. “Amniyosentez Ile Tanı Konulan 4707 Olgunun Sitogenetik Bulgularının Değerlendirilmesi”. Cukurova Medical Journal, vol. 36, no. 1, 2011, pp. 8-14.