Prenatalna identifikacija izolirane aberantne potključne arterije: je li potrebna daljnja genetska obrada?

The objective of this study was to evaluate the association between aberrant right subclavian artery (ARSA) and chromosomal abnormalities. The study included 5211 women having attended our unit for fetal anatomic screening and fetal echocardiography from August 2016 until February 2019. After diagnosing ARSA, prenatal invasive testing was discussed with the patients. ARSA affected fetus was determined in 57 cases; of these, there were 38 cases of isolated ARSA and 19 cases of non-isolated ARSA but associated with soft markers and fetal anomalies. Nineteen patients underwent amniocentesis; Down syndrome was determined in two women, both of them from the non-isolated ARSA group, with fetal hydrops, atrioventricular septal defect and esophageal atresia. Fifteen of 38 patients who declined prenatal diagnostic testing, accepted karyotype analysis after delivery and none of these 15 cases had chromosomal abnormalities. Identification of ARSA should be followed by detailed ultrasound examination to ensure that there are no accompanying soft markers and/or structural defects. Isolated ARSA may not be an indication for karyotype analysis or 22q11.2 microdeletions. Non-ARSA implies a strong predictor of aneuploidy, and when additional findings are detected, invasive testing should be offered to the parents. The association between isolated ARSA and genetic disease should be evaluated in large powered prospective studies.Cilj ovoga istraživanja bio je procijeniti udruženost aberantne desne potključne arterije (ADPA) i poremećaja kromosoma. Istraživanje je obuhvatilo 5211 žena koje su posjetile našu jedinicu za anatomski probir i fetalnu ehokardiografiju od kolovoza 2016. do veljače 2019. godine. Nakon što je dijagnosticirana ADPA sa ženama se razgovaralo o prenatalnom invazivnom testiranju. Fetalna ADPA utvrđena je u 57 slučajeva, uključujući 38 slučajeva izolirane ADPA i 19 slučajeva ne-izolirane ADPA, ali udružene s „mekim“ biljezima i fetalnim anomalijama. Devetnaest žena podvrgnuto je amniocentezi. Downov sindrom utvrđen je kod dvije žene, obje iz skupine s ne-izoliranom ADPA, s fetalnim hidropsom, atrioventrikulskim septalnim defektom i atrezijom jednjaka. Petnaest od 38 žena koje su odbile prenatalno dijagnostičko testiranje prihvatilo je analizu kariotipa nakon porođaja i nijedna od njih nije imala kromosomne poremećaje. Nakon identificiranja ADPA treba uslijediti podroban ultrazvučni pregled kako bismo bili sigurni da ne postoje prateći „meki“ biljezi i/ili strukturni defekti. Izolirana ADPA ne mora biti indikacija za analizu kariotipa ili mikrodelecije 22q11.2. Ne-ADPA snažno upućuje na aneuploidiju, a kad se dobiju dodatni nalazi tada treba roditeljima ponuditi invazivno testiranje. Udruženost izolirane ADPA i genetske bolesti treba procijeniti u velikim i valjanim prospektivnim studijama

Validation of the Fecal Incontinence Severity Index in a Turkish Population

WOS: 000378713200020PubMed: 26945267Aim: The aim of this study was to validate the Turkish-translated version of the Fecal Incontinence Severity Index (FISI) for Turkish-speaking patients. Methods: This prospective cohort study included 58 patients: 22 (37.9%) scored 0 (no incontinence), and the remaining 36 (62.1%) scored at least 1 (any level of gas, mucus, liquid, solid incontinence, pad wear, or lifestyle alteration). Test-retest reliability analysis, internal consistency analysis, content-face validity, and criterion validity were used to evaluate the Turkish version of the FISI. Validity of the criteria was assessed through correlation analyses between patient and surgeon scores of FISI and manometric measurement between patients with or without anal incontinence symptoms. Results: The 2-week test-retest revealed significant correlation (P < 0.001). The Cronbach alpha values of the translated version for total scores of the scale were 0.735 and 0.734 for patient-rated scores and surgeon-rated scores, respectively, and indicate a high degree of internal consistency in each item of the questionnaire. Total and all subgroup scores of the FISI scale showed significant correlation with the maximal squeeze pressure and resting pressure values. Comparison of maximal squeeze pressure and resting pressure values of both groups showed significant differences between women with no incontinence and women with any form of incontinence. Conclusions: The Turkish-translated version of the FISI is a reliable, consistent, and valid instrument for assessing the patient-rated symptom severity among women with anal incontinence in a Turkish-speaking population