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2013, vol. 47, br. 1, str. 12-16
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Incidenca Daunovog sindroma kod novorođene dece na Klinici za ginekologiju i akušerstvo Kliničkog centra Kragujevac u periodu 2007-2012. godine
The incidence of Down syndrome in newborns at the Department of Obstetrics and Gynecology of the Clinical center Kragujevac during the period 2007-2012
aUniverzitet u Kragujevcu, Fakultet medicinskih nauka, Srbija bKlinički centar Kragujevac, Klinika za ginekologiju i akušerstvo, Srbija cKlinički centar Kragujevac, Klinika za internu medicinu, Srbija dZdravstveni centar 'Dr Dragiša Mišović', Citološka laboratorija, Čačak
e-adresa: alexandrad84@gmail.com
Sažetak
Cilj. Glavni cilj ovog rada bio je da utvrdi incidencu Daunovog sindroma, dijagnostikovanog prenatalno i kod novorođene dece u Kragujevcu. Metode. Retrospektivnom studijom obuhvaćena je grupa od 1.208 trudnica, kao i grupa od 10.712 porodilja starosti od 14 do 55 godina, koje su na Kliniku za ginekologiju i akušerstvo Kliničkog Centra Kragujevac došle u periodu 2007-2012. godine. Ćelije amnionske tečnosti, uzete tokom amniocenteze između 16. i 18. nedelje trudnoće, kultivisane su u trajanju od 12 dana, a posle citogenetske obrade materijala hromozomski bojene standardnim tehnikama i potom analizirane na svetlosnom mikroskopu. Podaci su analizirani i prikazani deskriptivno. Rezultati. Tokom petogodišnjeg perioda, između januara 2007. i decembra 2011, bilo je osam slučajeva Daunovog sindroma dijagnostikovana amniocentezom 1.208 amniona, sa incidencom jedan u 151 amnion, i 15 dece rođeno sa Daunovim sindromom od 10.822 živorođene dece, sa incidencom jedan u 721 živorođenog deteta. U trenutku porođaja bilo je 1.070 trudnica starijih od 35 godina, a pet od 15 beba sa Daunovim sindromom deca su ovih porodilja. Bilo je 9.464 trudnica koje su u trenutku porođaja imale 18-35 godina, a 10 njih rodilo je 10 beba sa Daunovim sindromom. Bilo je osam fetusa sa Daunovim sindromom, kod kojih je dijagnostikovana trizomija 21, i svih osam trudnoća je prekinuto izborom roditelja i odlukom Etičkog odbora Kliničkog centra u Kragujevcu. Zaključak. Odluka da se ne uradi prenatalna dijagnostika (jer je bilo kasno za amniocentezu ili zbog odluke porodice), dovela je do rađanja dece sa Daunovim sindromom.
Abstract
Objective. The main objective of this study was to determine the incidence of Down syndrome in newborn infants diagnosed prenatally and in newborn children in Kragujevac. Methods. This retrospective study included groups of 1208 pregnant women and 10,712 mothers aged 14-55 years, who came to the Gynecology and Obstetrics Clinic, Clinical Center Kragujevac during the period 2007-2012. Cells of amniotic fluid, taken during amniocentesis between 16 and 18 weeks of pregnancy, were cultured for 12 days and, after cytogenetic processing, stained and analyzed with light microscopy. Data were analyzed and presented descriptively. Results. During the four year period, between January 2007 and December 2011, 8 cases of Down syndrome were diagnosed by amniocentesis of 1208 amnions, which resulted in incidence of 1 in 151 amnions. Also, there were 15 cases of liveborn children with Down syndrome in 10822 liveborn babies, which made an incidence of 1 in 721 liveborns. The total of 1070 pregnancies were with mothers older than 35 years at the time of labor and 5 of 15 liveborn babies with Down syndrome were from mothers belonging to this group. Also, 9464 pregnancies were with mothers aged 18-35 years and in this group there were the last 10 cases of Down syndrome. There were 8 fetuses with Down syndrome, all diagnosed with trisomy 21, and all 8 aborted by choice of the Ethical committee of the Clinical Center Kragujevac. Conclusion. The decision of not having prenatal diagnostics for pregnancies, some by late amniocentesis, some by the decision of the family, resulted in Down syndrome liveborns.
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Reference
|
|
1  
|
Bubalo, M., Milović, R., Lazić, Z. (2011) Primena implantata kod pacijenata sa rascepom nepca. PONS - medicinski časopis, vol. 8, br. 1, str. 26-29
|
|
  
|
Cuckle, H., Maymon, R. (2010) Down syndrome risk calculation for a twin fetus taking account of the nuchal translucency in the co-twin. Prenatal diagnosis, 30(9): 827-33
|
|
|
Hallahan, T., Krantz, D., Orlandi, F., Rossi, C., Curcio, P., Macri, S., Larsen, J., Buchanan, P., Macri, J. (2000) First trimester biochemical screening for Down syndrome: free beta hCG versus intact hCG. Prenatal diagnosis, 20(10): 785-9;discussion 790-1
|
|
|
Hof, O.J., Venter, P.A., Louw, M. (1991) Down's syndrome in South Africa-incidence, maternal age and utilisation of prenatal diagnosis. Afr Med J, 79: 213-216
|
|
|
Hoogendoorn, M., Evers, S.M.A.A., Schielen, P.C.J.I., van Genugten, M.L.L., de Wit, A.G., Ament, A.J.H.A. (2008) Costs and effects of prenatal screening methods for Down syndrome and neural tube defects. Community genetics, 11(6): 359-67
|
|
|
Huderer-Duric, K., Skrablin, S., Kuvacic, I., Sonicki, Z., Rubala, D., Suchanek, E. (2000) The triple-marker test in predicting fetal aneuploidy: a compromise between sensitivity and specificity. European Journal of Obstetrics & Gynecology and Reproductive Biology, 88(1): 49-55
|
|
|
Jill, J.S. (2004) Maternal metabolic phenotype and risk of down syndrome: Beyond genetics. American Journal of Medical Genetics, 127A(1): 1-4
|
|
|
Krstić, N., Stolić, R. (2010) Morbus Recklinghausen sa fibroliposarkomom (gradus III). Medicinski časopis, vol. 44, br. 4, str. 20-24
|
|
|
Lončar, D., Stojadinović, M., Lončar, S. (2011) Predikativna vrednost fetalne nuhalne translucence u skriningu hromozomskih aberacija. Acta medica Medianae, vol. 50, br. 1, str. 11-16
|
|
|
Marttala, J., Ranta, J.K., Kaijomaa, M., Nieminen, P., Laitinen, P., Kokkonen, H., Romppanen, J., Hamalainen, E., Kultti, J., Tekay, A., Ulander, V., Honkasalo, T., Ryynanen, M. (2011) More invasive procedures are done to detect each case of Down's syndrome in younger women. Acta obstetricia et gynecologica Scandinavica, 90(6): 642-7
|
|
|
Rasmussen, S.A., Wong, L., Correa, A., Gambrell, D., Friedman, J.M. (2006) Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998. Journal of Pediatrics, 148(6): 806-812.e1
|
|
|
Scala, I., Granese, B., Sellitto, M., Salomè, S., Sammartino, A., Pepe, A., Mastroiacovo, P., Sebastio, G., Andria, G. (2006) Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genetics in medicine, 8(7): 409-16
|
|
|
Seifer, D.B., MacLaughlin, D.T., Cuckle, H.S. (2007) Serum müllerian-inhibiting substance in Down's syndrome pregnancies. Human reproduction (Oxford, England), 22(4): 1017-20
|
|
1
|
Sherman, S.L., Freeman, S.B., Allen, E.G., Lamb, N.E. (2005) Risk factors for nondisjunction of trisomy 21. Cytogenetic and genome research, 111(3-4): 273-80
|
|
|
Spencer, K. (2001) Age related detection and false positive rates when screening for Down's syndrome in the first trimester using fetal nuchal translucency and maternal serum βhCG and PAPP-A. British Journal of Obstetrics and Gynaecology, 108(10): 1043-1046
|
|
|
Sperling, K., Pelz, J., Wegner, R.D., Schulzke, I., Struck, E. (1991) Frequency of trisomy 21 in Germany before and after the Chernobyl accident. Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie, 45(6): 255-62
|
|
|
Sun, J., Hsia, P., Sheu, S. (2008) Women of advanced maternal age undergoing amniocentesis: a period of uncertainty. Journal of clinical nursing, 17(21): 2829-37
|
|
|
Vundinti, B.R., Ghosh, K. (2011) Incidence of down syndrome: Hypotheses and reality. Indian journal of human genetics, 17(3): 117-9
|
|
|
Witters, I., Fryns, J.P. (2008) Prenatal diagnosis of trisomy 21: registration results from a single genetic center. Genetic counseling (Geneva, Switzerland), 19(2): 157-63
|
|
|
|
|