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Objective: Vesicoureteral reflux (VUR) is an important disorder that could be diagnosed in antenatal or postnatal period. The natural history of VUR seems to be different between prenatal or postnatal forms of the disease. We compared the natural history and outcome of vesicoureteral reflux in infants less than one year old diagnosed prenatally or postnatally. Methods: All infants less than 12 months old with VUR were enrolled in two groups. Group 1 composed of patients with antenatal hydronephrosis and group2, infants with diagnosis of VUR because of UTI or other postnatal problems. We followed patients for an average of 33 months. Outcome was assessed by several factors: somatic growth, need for surgery, resolution, occurrence of UTI and scar formation. Findings: We studied 236 renal units in 152 patients (70 boys, 82girls), 67 patients in group 1 and 85 patients in group2. Occurrence of recurrent UTI was 10.6% with no significant difference between two groups. Reflux resolved in postnatal group more significantly than in the other group (73% vs 49%). Scar developed similarly in both groups (15% vs 25% of renal units). Surgery performed in 7 (8.2%) of postnatal and 4 (6%) of prenatal group with no significant differences between the two groups. Conclusion: VUR diagnosed prenatally has similar importance and outcome as postnatal diagnosed one. We suggest performing the same imaging and treatment procedures for prenatally and postnatally diagnosed VUR. [ABSTRACT FROM AUTHOR]

Objective: Four combinations of five neutral sequence changes at rs713040, rs10768683, rs7480526, rs7946748, and rs1609812 occurring in the human beta globin gene defined as frameworks have been reported in beta globin gene. Here we report for the frequency of these frameworks in thalassemia major patients of North Iran. Methods: Beta globin gene frameworks of 46 thalassemia major patients of North Iran were determined using Denaturing Gradient Gel Electrophoresis. Findings: All these frameworks called framework 1, 2, 3, 3a were present at the frequency of 23.9%, 45.7%, 6.5% and 23.9% respectively. Conclusion: These frameworks may be used for tracking mutant alleles in prenatal diagnosis programs. [ABSTRACT FROM AUTHOR]

Congenital adrenal hyperplasia (CAH) is characterized by impaired biosynthesis of cortisol. 21-hydroxylase deficiency is the most common cause of CAH affecting 1 in 10000-15000 live births over the world. The frequency of the disorder is very high in Iran due to frequent consanguineous marriages. Although biochemical tests are used to confirm the clinical diagnosis, molecular methods could help to define accurate diagnosis of the genetic defect. Recent molecular approaches such as polymerase chain reaction based methods could be used to detect carriers and identify different genotypes of the affected individuals in Iran which may cause variable degrees of clinical expression of the condition. Molecular tests are also applied for prenatal diagnosis, and genetic counseling of the affected families. Here, we are willing to delineate mechanisms underlying the disease, genetic causes of CAH, genetic approaches being used in the country and recommendations for health care improvement on the basis of the molecular and clinical genetics to control and diminish such a high prevalent disorder in Iran. Also, the previous studies on CAH in Iran are gathered and a diagnostic algorithm for the genetic causes is proposed. [ABSTRACT FROM AUTHOR]

Objective; G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities, hi recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Potymerase Chain Reaction (QF-PCR) has been widely used for this purpose. Heterozygosity of short tandem repeat (STR) markers which leads to informativity is the most critical requirement for feasibility of QF-PCR. Methods: In this study we analyzed several short tandem repeats on chromosomes 13,18, 21, X and Y on amniotjc fluid samples obtained from PND candidates to diagnose conditions such as Down, Edward and Patau syndromes and also numerical sex chromosome abnormalities such as Klinefelter and Turner syndromes. Findings: Most of the analyzed STRs had acceptable heterozygosity (66.3-94.7) to be used in QF- PCR based prenatal diagnosis. Moreover, results obtained from both methods; (standard karyotype and QF-PCR) for all samples were in accordance with each other. Conclusion- In case of using appropriate STR markers, and in cértaWctoiicai indications, QF-PCR could be used as useful technique for prenatal diagnosis even in coçs&tjgùine populations such as Iranians. [ABSTRACT FROM AUTHOR]