Özet:

Objective: In children, developmental and genetic kidney abnormalities are the main causes of perinatal/neonatal mortality. These anomalies are also accompanied by a lot of extra-renal congenital disorders that affect the patient's prognosis. The purpose of this study is to evaluate the frequency of congenital urine system malformations in perinatal period autopsy, the correlation between ultrasound findings in the antenatal period and postmortem findings, the results of chromosome analysis of events with urine system anomalies, the types of developmental and genetic genitourine system pathologies and accompanied congenital malformations. Material and Method: Data of postmortem examination conducted at the Faculty of Pediatric Pathology of the University of Hacettepe between January 2000 and December 2012 were evaluated as retrospective. Results: 113 (8,0%) of the 1412 perinatal period autopsy found a pathology of the urinary system. These were also grouped as developmental (89 cases, 6.3 percent) and renal genetic (24 cases, 1.7 percent) anomalies. The smallest of the cases was the 13 weeks fetus, and the largest was the 20 day newborn baby. The renal agenesis was the most common developmental renal anomaly. In the group of genetic urine system pathologies, the most commonly identified autosomal resessive polycystic kidney disease was identified. In almost all developing and hereditary/genetic kidney anomalies (108/113=95,5%) occurred at least one or more non- kidney pathologies. Genitourinary system anomalies were the most associated pathologies with a rate of 52.2%. Then 38.9% of the muscle and skeletal system anomalies, 34.5% of the respiratory system anomalies, 27.6% of the central nervous system anomalies, 26.5% of the gastrointestinal system anomalies and 11.5% of the circulatory system anomalies were included. In 58 of the cases (51.3%), antenatal ultrasound findings were found to be compatible with autopsy findings. Chromosome abnormality was detected in nine cases (8%). These were associated with kidney agenesis, dysplastic kidney and atnal kidney. The result: in 95% of the cases studied in our study, congenital malformations that show connectivity have been detected. In cases terminated by the detection of an anomaly of the urine system in the prenatal period, the detailed autopsy examination and chromosomal evaluation will be useful for giving genetic advice to families.