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Role of Autopsy and Genetic Testing in the Diagnosis of Perinatal Deaths due to Congenital Anomalies: A Cross-sectional Study |
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Asaranti Kar, Shreya Rath, Pallavi Bhuya, Sasmita Panda, Tushar Kar, Lity Mohanty, Lilabati Guru 1. Professor and Head, Department of Pathology, FM Medical College and Hospital, Balasore, Odisha, India. 2. Senior Resident, Department of Pathology, Government Medical College, Sundargarh, Odisha, India. 3. Associate Professor, Department of Pathology, Government Medical College and Hospital, Keonjhar, Odisha, India. 4. Associate Professor, Department of Pathology, AHPGIC, Cuttack, Odisha, India. 5. Professor, Department of Obstetrics and Gynaecology, SCB Medical College and Hospital, Cuttack, Odisha, India. 6. Professor and Head, Department of Pathology, SCB Medical College and Hospital, Cuttack, Odisha, India. 7. Consultant (Obstetrics and Gynaecology), Private Practitioner, Cuttack, Odisha, India. |
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Correspondence Address : Asaranti Kar, Srushti, Bajrakabati Canal Road, Professor Pada, Cuttack-753012, Odisha, India. E-mail: asarantikar@yahoo.co.in |
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ABSTRACT | |||||||
: Introduction: Foetal autopsy is one of the primary modalities for establishing the underlying causative aetiology in congenitally anomalous foetuses. Genetic aetiology is the cause in at least half of the foetuses. A correlative approach including dysmorphological evaluation, histopathology, imaging studies, and genetic testing plays a significant role in establishing the final diagnosis and management of such cases. Aim: To investigate the cause of perinatal death through a correlative approach involving Ultrasonography (USG), cytogenetic analysis, and autopsy in congenitally malformed neonates. Materials and Methods: This cross-sectional study was conducted in the Department of Pathology and Obstetrics and Gynaecology at SCB Medical College, Cuttack, Odisha, India, from June 2018 to June 2020. The study included 19 congenitally malformed foetuses/aborted foetuses/neonates not compatible with life, born in the labour room. Written informed consent was obtained, and cord/cardiac blood/soft tissue samples from congenitally anomalous foetuses were collected in a heparinised vial/sterile container during delivery and sent for cytogenetic testing. The deceased foetuses were weighed, external abnormalities and anthropometry were recorded, and then they were preserved in 10% formalin. Autopsies were performed using Virchow’s method. All internal abnormalities were recorded, and sections were sent for Histopathological (HP) study. All the data was analysed using the Statistical Package for Social Sciences (SPSS) software version 20.0. Results: The study included a total of 19 cases, including 11 (57.8%) cases of Intrauterine Deaths (IUD). The majority were males 8 (42%), in the gestational age group of 20-25 weeks (36.7%). Maternal age ranged from 21 to 30 years, with the majority being nine cases (47.3%), and 13 cases (68.3%) without antenatal check-ups. The study comprised 6 cases (31.57%) of genetic syndromes, including Trisomy 21, 13, 18, and Monosomy X, 5 cases (26.3%) of musculoskeletal defects such as Meckel Gruber syndrome, Heterotaxy syndrome, and Thanatophoric dysplasia, and 5 cases (26.3%) of neural tube defects. Conclusion: Autopsy determined the cause of death in 90% of the cases and, when combined with genetic analysis, established the syndromic diagnosis. Autopsy findings can complement or modify the ultrasonographic findings. Therefore, perinatal autopsy should always be included in the management of deaths due to congenital anomalies. | |||||||
Keywords : Cytogenetics, Down syndrome, Dysmorphology, Meckel Gruber syndrome, Neural tube defects | |||||||
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DOI and Others :
DOI: 10.7860/IJNMR/2024/65084.2403
Date of Submission: Apr 28, 2023 Date of Peer Review: Jul 12, 2023 Date of Acceptance: Oct 15, 2023 Date of Publishing: Mar 31, 2024 AUTHOR DECLARATION: • Financial or Other Competing Interests: None • Was Ethics Committee Approval obtained for this study? Yes • Was informed consent obtained from the subjects involved in the study? Yes • For any images presented appropriate consent has been obtained from the subjects. Yes PLAGIARISM CHECKING MET |
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Original article / research
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