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Post-Mortem Examination of Prenatally Diagnosed Fatal Renal Malformation

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Post-Mortem Examination of Prenatally Diagnosed Fatal Renal Malformation Journal of Perinatology (2008) 28, 736–742 r 2008 Nature Publishing Group All rights reserved. 0743-8346/08 $30 www.nature.com/jp ORIGINAL ARTICLE Post-mortem examination of prenatally diagnosed fatal renal malformation N Kumari1, M Pradhan2, VH Shankar2, N Krishnani1 and SR Phadke2 1Department of Pathology, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow, UP, India and 2Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow, UP, India Introduction Objective: Renal malformations can be associated with genetic syndromes Congenital renal malformations are a common cause of perinatal and chromosomal disorders. Fetal autopsy including histopathological death.1 One such mishap creates anxiety in the couple for the fear examination of kidney is important to arrive at definite diagnosis. The of similar recurrence in future pregnancies. The recurrence risk of objective was to assess importance of fetal autopsy and histopathology. these disorders varies from negligibly low to 25 to 50% depending Study Design: Retrospective analysis of cases with fetal renal on the genetic component in the etiology of the disorder. Every malformations was done. All fetuses terminated were examined with effort should be made to identify the etiology of perinatal death so whole body radiograph, external and internal examination and that appropriate genetic counseling can be given. Targeted histopathological examination. anomaly scan can detect fetal renal malformations and associated Result: A total of 21 cases with renal malformations were studied. Of all oligohydramnios, which will predict the prognosis. However, fetal 3 were of bilateral renal agenesis, 4 showed autosomal recessive polycystic autopsy including histopathological examination is important for kidney disease and 13 showed features of multicystic kidney. Three of identifying definite etiology. Moreover, renal anomalies can also be these had hyperplasic-enlarged bladder and autopsy confirmed urorectal a part of congenital syndromes involving multiple organs, and septum malformations in two cases and posterior urethral valve in one identification of these abnormalities may significantly change the case. One case had associated malformations like encephalocele that recurrence risk in future pregnancies. The objective of the present suggested diagnosis of Meckel–Gruber syndrome and another had study was to review our cases with fetal renal malformations, to associated lateral body wall defect. In five cases kidney was hypoplastic assess the importance of fetal autopsy and histopathology. suggestive of Potter type IIa. Conclusion: Ultrasound is an effective diagnostic modality; however Methods fetal autopsy after termination of pregnancy is important to arrive at a definitive diagnosis. It’s important to distinguish between autosomal The study was carried out as a retrospective analysis of cases with recessive polycystic kidney disease (ARPKD) and cystic dysplastic kidney as fetal renal malformations in a tertiary referral center in 5-year recurrence risk is 3% in case of cystic renal dysplasia in contrast to 25% in period (2001 to 2005). The fetuses were of different gestational case of ARPKD. Gross examination may point toward syndromic diagnosis ages. All fetuses terminated were examined according to the like Meckel–Gruber syndrome; hence mode of prenatal diagnosis may routinely followed protocol. This included a photograph, whole vary in subsequent pregnancies. body radiograph, external and internal examination including Journal of Perinatology (2008) 28, 736–742; doi:10.1038/jp.2008.93; histopathological examination of the relevant tissues. published online 3 July 2008 A chromosomal analysis was carried out whenever fresh tissue was available. All post-mortem examinations were carried out with Keywords: multicystic dysplastic kidney; autosomal recessive polycystic written consent of the father or relatives who brought the fetus. kidney; urorectal septal malformation Results Of the 21 cases with renal malformations, 3 were identified as Correspondence: Dr M Pradhan, Department of Medical Genetics, Sanjay Gandhi Post- bilateral renal agenesis. Axial and sagittal sonogram of the fetal Graduate Institute of Medical Sciences, Rae Bareli Road, Lucknow 226014, UP, India. abdomen showed nonvisualization of kidneys on both sides, E-mail: [email protected] Received 31 August 2007; revised 11 March 2008; accepted 26 March 2008; published online nonvisualization of urinary bladder and severe oligohydramnios. 3 July 2008 Ultrasonogram in four cases showed enlarged hyperechogenic Prenatally diagnosed renal malformation N Kumari et al 737 kidneys with loss of corticomedullary differentiation and severe encephalocele that suggest the diagnosis of Meckel–Gruber oligohydramnios suggestive of autosomal recessive polycystic syndrome (Figures 3a and b). Another case (case no. 21) had kidney disease (ARPKD; Figure 1). One couple had history of associated lateral body wall defect. In five cases kidney was similar condition in previous pregnancy. The diagnosis of ARPKD hypoplastic suggestive of Potter type IIa associated with severe was confirmed on histopathological examination. One fetus had oligohydramnios. The couple decided for termination of pregnancy hydronephrosis with normal amount of amniotic fluid, delivered at as their previous child had similar problem with vesicoureteric term and died on the 5th postnatal day due to septicemia. Fetal reflux in the normal kidney. No cytogenetic abnormality was autopsy confirmed the hydronephrosis. Examination of the parents detected in any of the fetuses. All 21 cases with ultrasonographic revealed hydronephrosis in the mother. and fetal autopsy finding are given in Table 1. The sonological features of multicystic kidney were present in 13 cases. Of these, two cases had hyperplastic-enlarged bladder, suggestive of lower urinary tract obstruction. Fetal autopsy Discussion confirmed the diagnosis as urorectal septum malformations Urinary tract abnormalities have a profound effect on pregnancy (URSMs) in one case and posterior urethral valve in another case outcome, especially when associated with oligohydramnios. Severe (Figure 2). One case had associated malformations like oligohydramnios cause fatal pulmonary hypoplasia and poor fetal Figure 1 Ultrasonography of autosomal recessive polycystic kidneys showing Figure 2 Distended urinary bladder and bilateral ureters in case of posterior hazy appearance. urethral value. Figure 3 (a) Case of Meckel Gruber syndrome showing ambiguous genitalia and polydactyly of hands and feet. (b) X-ray findings showing anencephaly in case of Meckel Gruber syndrome. Journal of Perinatology Prenatally diagnosed renal malformation N Kumari et al 738 Table 1 Ultrasonography findings with fetal autopsy correlation in cases with fetal renal malformations Case USG findings Fetal autopsy findings Histopathology findings Final no. diagnosis 1 Severe oligohydramnios Grossly enlarged kidney, maintained reniform KidneyFelongated cysts radiating from cortex to ARPKD Large echogenic kidneys shape, tiny cysts visible on external surface medulla lined by cuboidal to flattened lining Nonvisualization of bladder epithelium. Few normal glomeruli seen within septa. LiverFexpanded portal tracts with increased dilated bile ducts 2 Bilateral enlarged kidney with Bilateral enlarged kidneys/spongy appearance KidneyFelongated cysts radiating from cortex to ARPKD cystic spaces, severe Ureter and bladder normal medulla lined by cuboidal to flattened lining oligohydramnios, epithelium. Few normal glomeruli were seen in septa nonvisualization of UB 3 Enlarged kidneys with severe Potter facies Same as above ARPKD oligohydramnios Large kidneys with spongy appearance 4 Enlarged kidneys Both kidneys are enlarged, cut section had Same as above ARPKD Severe oligohydraminos spongy appearance Bladder seen 5 Oligohydramnios Enlarged misshapen kidneys, loss of reniform KidneyFcysts located in the cortex, communicating MCDK Enlarged multicystic kidney shape and dilated ureter in places, small immature tubules lined by cuboidal URSM Distended UB Large cystic mass (bladder) epithelium and surrounded by a collar of cellular Anal opening absent mesenchyme. No heterologous tissue identified. URSMFfibromuscular tissue lined by immature urothelium and focal calcification 6 Enlarged multicystic kidney Abnormal genitalia Cortical renal cysts communicating in places, small MCDK Severe oligohydramnios Bilateral small kidney immature tubules lined by cuboidal epithelium and URSM Nonvisualization UB? URSM Urethral agenesis surrounded by a collar of cellular mesenchyme. No heterologous tissue identified. Intranuclear CMV inclusions identified in some tubular epithelial cells, testicular tissue present. 7 Severe oligohydramnios Dilated thin UB Cortical renal cysts communicating in places, small MCDK Dilated bladder Hydroureter immature tubules lined by cuboidal epithelium and PUV Dilated pelvicalyceal system Multicystic dysplastic kidney surrounded by a collar of mesenchyme. No heterologous tissue identified 8 Enlarged kidney Encephalocele Dysplastic features same as above MCDK Encephalocele Enlarged kidney Meckel– Severe oligohydramnios Gruber syndrome 9 Dysplastic kidney Massively thickened bladder, minimal dilatation Unilateral small sized kidney with dysplastic features MCDK Dilated ureter of ureter, PUJ obstruction as above, contralateral PUJ obstruction and dilated (hypoplastic PUJ obstruction pelvis kidneys) Oligohydramnios 10 Severe oligohydramnios;
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