The Autopsy Findings of 29 Cases with Prenatally Diagnosed Renal Anomalies
H Akgun, MT Ozgun, F Ozturk, T Okten, M Basbug. Erciyes University Medical Faculty, Kayseri, Turkey
Background: Renal anomalies are common congenital anomalies, with diverse morphological and etiopathogenic features. The aim of the study was to compare the consistency of renal anomalies detected by second trimester prenatal ultrasound examination with the findings in fetal autopsies following the termination of pregnancy (TOP) in the second trimester.
Design: In a 4-year long prospective study, the study included 29 cases with renal anomalies out of 107 second-trimester TOP was performed due to fetal malformation diagnosed by second trimester-ultrasound examination at a tertiary referral center. Ultrasound findings were compared with fetal autopsy findings.
Results: There were 107 prenatally diagnosed malformed fetuses that were analyzed following the TOP. There were 29 (27%) renal anomalies (isolated n = 10, multiple anomalies n = 19). The mean maternal age was 26 years (range 19–40). The mean gestational age at the time of termination was 20 weeks (range 13–28). The most common renal malformation was cystic renal disease (n = 27) including infantile type polycystic kidney disease (n=23) and cystic renal dysplasia (n=4). There was a case with bilateral renal agenesis, and another case with horseshoe kidney. Eight cases with cystic renal diseases had associated malformations including encephalocele and polydactly consistent with Meckel-Gruber syndrome. There were one case with polycystic kidney together with Prune-Belly syndrome and another case with cystic renal dysplasia was associated with sirenomelia. There were polydactly (n=10), central nervous system anomalies (n=12) and cardiac anomalies (n=4) in fetuses with cystic renal diseases (n=19). All fetal anomalies were detected by prenatal sonography and fetal autopsy confirmed these anomalies.
Conclusions: Fetal autopsy including histopathological examination of kidney is important to establish definitive diagnosis. It's important to distinguish between infantile type polycystic kidney disease and cystic dysplastic kidney as recurrence risk is 3% in case of cystic renal dysplasia in contrast to 25% in case of infantile type polycystic kidney disease. Gross examination may point toward syndromic diagnosis like Meckel-Gruber syndrome. This study confirms that developmental anomalies of the kidney are frequent and that ultrasound diagnoses are in good concordance with the autopsy diagnoses.
Monday, March 22, 2010 1:15 PM
Platform Session: Section G, Monday Afternoon