Post-mortem examination of prenatally diagnosed fatal renal malformation

Kumari, Niraj; Pradhan, Mandakini; Shankar, Vijai; Krishnani, Narendra; Phadke, Shubha R.

doi:10.1038/jp.2008.93

Cited by 17 publications

(7 citation statements)

References 21 publications

(18 reference statements)

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“…We acknowledge a major limitation in our study. A larger sample size may have been more informative, though the size of our study is comparable with what has been previously published . Some malformations such as prune belly syndrome, Ivemark II syndrome, and sirenomelia are very rare that increasing the sample size may not solve all problems.…”

Section: Discussionsupporting

confidence: 65%

“…Additionally, prognostic accuracy for detecting urinary system anomalies was 99.6%. Confirmation of a prenatal diagnosis of urinary system anomalies by autopsy plays an important role to improve quality of ultrasonographic evaluation …”

Section: Discussionmentioning

confidence: 99%

“…However, a majority of these studies included fetuses from all gestational ages and were retrospective in nature. A few studies aimed to comprehensively focus on the prenatal diagnosis of urinary system anomalies by comparing prenatal findings with autopsy results . Except for one study, these studies were all retrospective in nature and consisted of a limited number of cases .…”

Section: Introductionmentioning

confidence: 99%

“…A few studies aimed to comprehensively focus on the prenatal diagnosis of urinary system anomalies by comparing prenatal findings with autopsy results . Except for one study, these studies were all retrospective in nature and consisted of a limited number of cases . The only prospective study again included all gestational ages, spontaneous abortions, stillborn fetuses, and neonatal deaths.…”

Section: Introductionmentioning

confidence: 99%

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Correlation between prenatal ultrasound and fetal autopsy findings on urinary system anomalies terminated in the second trimester

et al. 2014

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Section: Discussionsupporting

confidence: 65%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Correlation between prenatal ultrasound and fetal autopsy findings on urinary system anomalies terminated in the second trimester

et al. 2014

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“…CNS malformations are very severe and often involve occipital encephalocele with posterior extrusion of the brain outside the skull (Figure II D , reprinted with permission from [48]). Associated defects include Leber congenital amaurosis (LCA) and postaxial polydactyly (Figure II E , reprinted with permission from [49]). MKS leads to fetal or perinatal death.…”

Section: Assembling Signaling Pathways Through the Tz Trafficking Gatementioning

confidence: 99%

The ciliary transition zone: from morphology and molecules to medicine

Czarnecki

Shah

2012

Trends in Cell Biology

127

140

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Researchers from various disciplines, including cell and developmental biology, genetics and molecular medicine have revealed an exceptional diversity of cellular functions that are mediated by cilia-dependent mechanisms. Recent studies have directed our attention to proteins that localize to the ciliary transition zone (TZ), a small evolutionarily conserved subcompartment that is situated between the basal body and the more distal ciliary axoneme. These reports shed light on the roles of TZ proteins in ciliogenesis, ciliary protein homeostasis and specification of ciliary signaling, and pave the way for understanding their contribution to human ciliopathies. In the present review, we describe the interplay of multimeric protein complexes at the TZ, integrating morphological, genetic and proteomic data towards an account of TZ function in ciliary physiology.

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Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy

Özdemir

Aksoy

Şen

2022

Intl J Gynecology & Obste

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Objective To evaluate the agreement and disagreement between prenatal ultrasound and fetal autopsy findings in pregnancy terminations due to urogenital anomalies. Methods Of 453 pregnancy terminations performed due to fetal anomalies, 82 cases with urogenital anomalies on either prenatal ultrasound or fetal autopsy were included in this retrospective study. The discrepancy between prenatal ultrasound and fetal autopsy findings on urogenital anomaly findings was evaluated. Results Complete agreement between prenatal ultrasound and fetal autopsy findings was noted in 33 (40.2%) cases (particularly for megacystis, bilateral renal agenesis, and infantile polycystic kidney), whereas partial agreement (anal atresia and horseshoe kidney as additional minor findings) and altered diagnosis were noted in 12 (14.6%) and 8 (9.8%) cases, respectively. Disagreement was noted in 29 (35.4%) cases including anomaly only on autopsy in 20 (24.3%) cases (renal agenesis, horseshoe kidney and multicystic dysplastic kidney in particular) and anomaly only on ultrasound in 9 (10.9%) cases. Conclusions Accordingly, our findings indicate fetal autopsy to be a method of vital importance in complementing prenatal diagnosis; it may add valuable information that may improve future pregnancy management and counseling of parents, and hence prenatal ultrasound and fetal autopsy should be regarded as complementary techniques.

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Post-mortem examination of prenatally diagnosed fatal renal malformation

Cited by 17 publications

References 21 publications

Correlation between prenatal ultrasound and fetal autopsy findings on urinary system anomalies terminated in the second trimester

Correlation between prenatal ultrasound and fetal autopsy findings on urinary system anomalies terminated in the second trimester

The ciliary transition zone: from morphology and molecules to medicine

Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy

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