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SummaryBackgroundThe aim of this study was to investigate the role of peripheral blood markers as additional diagnostic tools to transvaginal ultrasound (TVU) findings in the diagnosis of endometriosis.MethodsThis study included 40 patients undergoing laparoscopy for suspected endometriosis from January to December 2012. Preoperative levels of serum CA125, CA19-9, CEA and mRNA expression levels for survivin and VEGF were obtained. Real-time PCR was used to determine relative gene expression. A new diagnostic score was obtained by deploying the peripheral blood markers to the TVU findings. Statistical methods used were Chi-square, Fisher’s, Student’s t-test or the Mann – Whitney test.ResultsThere was a statistically significant difference in serum CA125, survivin and VEGF levels in patients with endometriosis and those without endometriosis (p<0.001, p=0.025 and p=0.009, respectively). False negative TVU findings were noted in 3/13 patients (23.1%) with peritoneal endometriosis without ovaries involvement. High sensitivity (93.3%), specificity (90.0%), PPV (96.6%), NPV (81.8%) and accuracy (92.5%) were obtained for a diagnostic score based on TVU and significant peripheral blood markers (CA125, survivin and VEGF).ConclusionsDetermination of serum CA125, mRNA expression levels for survivin and VEGF along with TVU can contribute to higher accuracy of the noninvasive diagnostic tools for endometriosis.

Cilj rada. Glavni cilj ovoga rada je da se prikažu po prvi put rezultati prenatalne dijagnostike, incidenca hromozomskih aberacija, u Opštoj Bolnici Užice sa posebnim osvrtom na trizomiju hromozoma 21. Metode. Ovim radom obuhvaćena je grupa od 749 trudnica kojima je urađena invazivna prenatalna dijagnostika metodom amniocenteze u periodu od septembra 2006. do avgusta 2014. godine na Odeljenju ginekologije i akušerstva. Ukupan broj porođenih žena u istom vremenskom periodu je bio 12 447. Analiza kariotipa iz in vitro kultivisanih fetalnih ćelija rađena je standardnim tehnikama na Citogenetskom odeljenju Kliničkog Centra Kragujevac. Svi sakupljeni podaci su analizirani i prizani su grafi čki. Rezultati. Citogenetskom analizom otkriveno je 29 hromozomskih aberacija ploda (3,9%). Od ukupnog broj a hromozomskih aberacija bilo je 14 nebalansiranih hromozomskih rearanžmana (48%) i 15 balansiranih hromozomskih aberacija (52%). Otkriveno je sedam trizomija hromozoma 21, jedna triploidija, jedna delecija, jedna duplikacija, dve trizomije u mozaiku, dve numeričke aberacije polnih hromozoma. Balansiranih hromozomskih rearanžmana otkriveno je 15 i to inverzija hromozoma 9. Trizomija 21 čini 24% od svih ukupnih hromozomskih aberacija, odnosno 50% od svih otkrivenih nebalansiranih rearanžmana hromozoma. Incidenca Daunovog sindroma dijagnostifi kovanog prenatalno iznosi jedan u 107 amniona.