The Value of Perinatal Autopsy in the Evaluation of Genitourinary and Anorectal Malformations

Pavithra, D (2020) The Value of Perinatal Autopsy in the Evaluation of Genitourinary and Anorectal Malformations. Masters thesis, PSG Institute of Medical Sciences and Research, Coimbatore.


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INTRODUCTION: When the autopsy is being done on foetus or a neonate its termed as perinatal autopsy. The most common indications for perinatal autopsy includes termination of pregnancies for anomalies, intrauterine foetal demise and inevitable abortion. Urogenital and anorectal malformations is one of the commonest congenital anomaly and are seen only next to the anomalies of central nervous system and cardiovascular system. Foetal autopsy has a crucial role in confirming the congenital anomalies documented by the antenatal sonographic reports. Our ultimate aim is to detect the cause of death which includes investigations comprising of foetal autopsy, placental examination and genetic studies including karyotyping. AIMS AND OBJECTIVES: 1. To emphasize the role of foetal autopsy in urogenital and anorectal malformations. 2. To analyse the gross and microscopic examination of these foetuses with its placental findings. 3. To categorize the structural abnormalities and to explore the associated multi system manifestations of urogenital and anorectal anomalies. 4. To correlate the final autopsy findings with prenatal ultrasound features of these foetuses. MATERIALS AND METHODS: All foetal and perinatal autopsies performed at the department of pathology between January 2014 to December 2018 were analysed. Of the received 225 autopsies 40 cases of foetal anorectal and urogenital malformations / abnormalities were identified and included in the study. After receiving the foetus for examination, an informed consent was obtained from either of the parents. Maternal data collection was done including age of the mother, obstetric history, gestational age, consanguinity status and history of any medications. Photographs of the foetuses were taken before evisceration. Supine, prone with right and left lateral positions were taken. The external examination was performed systematically from head to toe including the general appearance and the skin.The internal examination was done by dissection. The placenta and cord were also examined, photographed and relevant sections were given. RESULTS: Of the studied 40 cases, 13 cases of congenital anomalies involving only the urinary tract were identified. Urinary tract anomalies with associated malformations in genital, anorectal tracts including cloacal dysgenesis/ urorectal septum malformation sequence were noted in 7 cases. 14 cases of syndromic causes were encountered, among which VACTERL ASSOCIATION was the commonest syndrome and seen in 6 cases.Non syndromic causes /multisystem anomalies occurred in 6 cases and involving CVS,RS,GIT,CNS and skeletal systems. We identified 12 cases of urorectal septum malformation sequence. Of which 3 cases each of complete and partial urorectal septum malformation sequence were observed The most common syndromes related to Urogenital & anorectal malformations identified in our study were VACTERL Associations(6 cases), OEIS complex(2 cases) and Meckel-Gruber syndrome(2 cases). Reasons for discordance in ultrasound findings can be due to fetal position, operator experience, amniotic fluid volume and maternal obesity leading to poor visualization of fetal anatomy. The highest rate of discordance was found in multiple anomalies. The clinical autopsy has long been an indispensable aspect of medical practice. Nevertheless over a past few decades, there is a dramatic reduction in the utilization rate of clinical and foetal autopsy, which causes a major concern. The foetal autopsy will contribute to establish the cause of death, to understand the disease process and to confirm the prenatal diagnosis. Autopsy results can also contribute to medico legal aspects, research, audit and be helpful as quality check for prenatal ultrasound examination.

Item Type: Thesis (Masters)
Additional Information: 201713401
Uncontrolled Keywords: Urorectal septum malformation sequence, VACTERL association, OEIS complex, Anorectal anomalies, Congenital amomalies of kidney and urinary tract, Posterior urethral valve.
Subjects: MEDICAL > Pathology
Depositing User: Subramani R
Date Deposited: 29 Jan 2021 18:26
Last Modified: 29 Jan 2021 18:26

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