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Journal articles on the topic 'Fetal autopsy'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Sirikonda, Parimala, and Nalluri Himabindu. "SIRENOMELIA: A DETAILED FETAL AUTOPSY STUDY." International Journal of Anatomy and Research 3, no. 4 (2015): 1669–74. http://dx.doi.org/10.16965/ijar.2015.311.

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2

Mishra, Sabita, Swati Tiwari, Sunayana Misra, Babita Pangtey, and Shivani Misra. "Fetal Autopsy: A Review." Medico-Legal Update 16, no. 1 (2016): 66. http://dx.doi.org/10.5958/0974-1283.2016.00014.1.

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3

Dwivedi, Daisy. "Fetal autopsy: Case report." Journal of the Anatomical Society of India 65 (September 2016): S119. http://dx.doi.org/10.1016/j.jasi.2016.08.386.

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4

CLAYTON-SMITH, JILL. "FETAL DYSMORPHOLOGY." Fetal and Maternal Medicine Review 23, no. 1 (2012): 52–70. http://dx.doi.org/10.1017/s0965539512000034.

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Congenital malformations are common, occurring in around 1 in 40 pregnancies. Analysis of data from European population-based congenital anomaly registers reported a malformation rate of 29.3 per 1000 births. Eighty percent of these were in live births whereas 17% were observed in fetuses terminated after ultrasound diagnosis of fetal abnormality. The remainder were stillborn or fetal deaths in utero. Fetal autopsy is still regarded as the gold standard procedure for identification of fetal abnormalities but assessment of the fetus by a clinical geneticist or other specialist with expertise in dysmorphology may also be informative. When coupled with other investigations which are non-invasive or involve only sampling of blood or other body fluids, examination for external malformations and dysmorphic features may complement autopsy findings or provide important information as to the causation of fetal abnormalities when autopsy is not possible. This situation is now becoming more common as rates of fetal autopsy have dropped significantly in the UK in recent years.

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5

J P, Jessy, Kanchan Kapoor, and Mahesh K. Sharma. "HISTOGENESIS OF HUMAN LUNG - RETROSPECTIVE FETAL AUTOPSY STUDY." International Journal of Anatomy and Research 7, no. 1.2 (2019): 6211–19. http://dx.doi.org/10.16965/ijar.2018.444.

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6

Cassidy, Arianna, Claire Herrick, Mary Norton, Philip Ursell, Juan Vargas, and Jennifer Kerns. "How does Fetal Autopsy after Pregnancy Loss or Termination for Anomalies and other Complications Change Recurrence Risk?" American Journal of Perinatology Reports 09, no. 01 (2019): e30-e35. http://dx.doi.org/10.1055/s-0039-1681013.

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Objective Historically, fetal autopsy was common after terminations for anomalies. Previous studies report that fetal autopsy confirms ultrasound findings in the majority of cases. This study aims to examine correlation between prenatal and autopsy diagnoses at University of California, San Francisco (UCSF) and evaluate whether autopsy adds diagnostic information, specifically information that changes risk of recurrence for future pregnancies. Study Design We conducted a retrospective chart review of all fetal autopsies performed at UCSF between 1994 and 2009. Prenatal diagnosis was compared with autopsy diagnosis; for cases where there was a change in diagnosis, an MFM (maternal-fetal medicine specialist) reviewed the case to assign risk of recurrence before and after autopsy. Results Overall, there was concordance between prenatal diagnosis and autopsy diagnosis in greater than 91.7% of cases. Autopsy added information that resulted in a change in recurrence risk in 2.3% of cases (n = 9). Conclusion For the vast majority of cases, there is agreement between prenatal and autopsy diagnosis after pregnancy loss or termination for fetal anomalies. Only a small percentage of autopsies change recurrence risk. This may be useful when counseling women about method of termination and when counseling couples about whether to have an autopsy.

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Chawla, Latika, Nitika Grover, Prashant Joshi, and Preeti Singh. "CHAOS: A fetal autopsy report." Journal of Family Medicine and Primary Care 9, no. 8 (2020): 4448. http://dx.doi.org/10.4103/jfmpc.jfmpc_792_20.

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8

D., Ranga Rao, Parameswari Babu U., Kalyan K., and Muni Bhavani I. "Pattern of Congenital Anomalies: A Hospital Based Fetal Autopsy Study." Indian Journal of Forensic Medicine and Pathology 11, no. 2 (2018): 106–10. http://dx.doi.org/10.21088/ijfmp.0974.3383.11218.11.

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Lima, Marcus Aurelho de, Lília Beatriz Oliveira, Neiva Paim, and Maria de Fátima Borges. "Congenital hyperthyroidism: autopsy report." Revista do Hospital das Clínicas 54, no. 3 (1999): 103–6. http://dx.doi.org/10.1590/s0041-87811999000300007.

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We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton 's jelly. Hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.

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10

Kandasamy, Yogavijayan, Meegan Kilcullen, and David Watson. "Fetal autopsy and closing the gap." Australian and New Zealand Journal of Obstetrics and Gynaecology 56, no. 3 (2015): 252–54. http://dx.doi.org/10.1111/ajo.12421.

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11

Auger, Nathalie, Rémi-Claude Tiandrazana, Jessica Healy-Profitós, and André Costopoulos. "Inequality in Fetal Autopsy in Canada." Journal of Health Care for the Poor and Underserved 27, no. 3 (2016): 1384–96. http://dx.doi.org/10.1353/hpu.2016.0110.

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12

Kidron, Debora, and Reuven Sharony. "Fetal liver calcifications: an autopsy study." Virchows Archiv 460, no. 4 (2012): 399–406. http://dx.doi.org/10.1007/s00428-012-1214-2.

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13

Shamseldin, Hanan E., Wesam Kurdi, Fatima Almusafri, et al. "Molecular autopsy in maternal–fetal medicine." Genetics in Medicine 20, no. 4 (2017): 420–27. http://dx.doi.org/10.1038/gim.2017.111.

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14

R. Ojha, Shashank, Pratibha Singh, Kavita Munjal, and Anand Bhutada. "Tracheal Agenesis: Role of Fetal Autopsy." Indian Journal of Genetics and Molecular Research 4, no. 1 (2015): 31–33. http://dx.doi.org/10.21088/ijgmr.2319.4782.4115.7.

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15

Venkataswamy, Chaitra, Umamaheswari Gurusamy, and S. Vidhya Lakshmi. "Second-trimester fetal autopsy: A morphological study with prenatal USG correlations and clinical implications." Journal of Laboratory Physicians 10, no. 03 (2018): 338–45. http://dx.doi.org/10.4103/jlp.jlp_134_17.

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ABSTRACT OBJECTIVES: The objective of this study is to analyze the second-trimester fetal autopsies and to reemphasize the role of autopsy by comparing autopsy findings with prenatal ultrasound observations. MATERIALS AND METHODS: Retrospective analysis of second-trimester fetal autopsies over a period of 7.5 years (January 2009–June 2016). A standard protocol of autopsy procedure was followed, which included external examination with photography, X-ray, internal examination, and histopathological examination. In fetuses with congenital malformations (CMs), the findings of prenatal ultrasonogram and autopsy examination were compared. RESULTS: We analyzed a total of 66 fetuses, which includes 17 intrauterine fetal death, 49 terminations for CM, and increased risk for chromosomal abnormality. In fetuses with CM, multiple anomalies were more common than a single anomaly. The most common anomalies were seen involving central nervous system (neural tube defect) followed by the genitourinary system. Autopsy confirmed prenatal ultrasound findings in all cases except three. Complete agreement between USG findings and autopsy were seen in 17 cases (39.7%). Additional findings on autopsy were noted in 25 cases (62.2%). Among these, 15 cases had a significant change of recurrence risk due to altered initial ultrasound diagnosis. CONCLUSION: Fetal autopsy plays an important role in arriving at the final diagnosis and detecting the cause of death. This information is very essential for the clinicians, in genetic counseling of the parents, and management of future pregnancies.

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16

Cho, Jeong Yeon, Seung Hyup Kim, and Mi Jin Song. "Can Postmortem Fetal MR Imaging Replace Autopsy?" Journal of the Korean Radiological Society 44, no. 2 (2001): 243. http://dx.doi.org/10.3348/jkrs.2001.44.2.243.

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17

Adachi, Yasushi, Yasutsugu Kobayashi, Hiroyuki Ida, et al. "An autopsy case of fetal Gaucher disease." Pediatrics International 40, no. 4 (1998): 374–77. http://dx.doi.org/10.1111/j.1442-200x.1998.tb01952.x.

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18

Archie, John G., Julianne S. Collins, and Robert Roger Lebel. "Quantitative Standards for Fetal and Neonatal Autopsy." American Journal of Clinical Pathology 126, no. 2 (2006): 256–65. http://dx.doi.org/10.1309/fk9d5wba1uept5bb.

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19

Tennstedt, C., P. Hufnagl, R. Chaoui, Hannelore Körner, and Manfred Dietel. "Fetal autopsy: a review of recent developments." European Journal of Obstetrics & Gynecology and Reproductive Biology 99, no. 1 (2001): 66–71. http://dx.doi.org/10.1016/s0301-2115(01)00359-1.

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20

Yachmenikova, V., and P. Woodford. "Cloacal exstrophy in a fetal autopsy case." Pathology 45 (2013): S88. http://dx.doi.org/10.1097/01.pat.0000426960.98864.d6.

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21

Puri, Ratna D., and I. C. Verma. "The Role of Radiographs in Fetal Autopsy." Journal of Fetal Medicine 1, no. 1 (2014): 7–9. http://dx.doi.org/10.1007/s40556-014-0008-9.

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22

Kotecha, Udhaya H., Ratna D. Puri, Pratima Dash, Sunita Bijarnia-Mahay, Meena Lall, and Ishwar C. Verma. "Need for Fetal Autopsy and Genetic Diagnosis in Fetal Limb Anomalies." Journal of Fetal Medicine 1, no. 3 (2014): 151–57. http://dx.doi.org/10.1007/s40556-015-0029-z.

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23

G., Umamaheswari, Ramya T., and Chaitra V. "Nonimmune hydrops foetalis (NIHF): value of fetal autopsy and comparison with ultrasound findings." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 7, no. 8 (2018): 3330. http://dx.doi.org/10.18203/2320-1770.ijrcog20183340.

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Background: Nonimmune hydrops foetalis (NIHF) is a terminal catastrophic event of pregnancy caused by numerous diverse etiology. The aim of this study was to assess the significance of foetal autopsy and to compare the prenatal ultrasound (USG) and foetal autopsy findings in cases of NIHF.Methods: All perinatal autopsies performed at the department of pathology between March 2011-February 2018 were retrospectively reviewed. Of the received 130 autopsies, twenty cases of NIHF were identified, records of which were collected and correlated with maternal medical history, prenatal imaging and autopsy findings.Results: The malformations with hydrops foetalis were classified according to the involved organ system. They were cardiothoracic (7/20 cases), genitourinary (3/20 cases), gastrointestinal lesions (1/20 cases), chromosomal (4/20 cases) and multisystem anomaly/syndromic association (5/20 cases). Complete agreement between USG and autopsy was seen in 8 (40%) cases. In 5 (25%) cases autopsy findings were in total disagreement with USG diagnosis. The rest of the 7 (35%) cases, autopsy revealed additional information and changed the recurrence risk in two cases.Conclusions: Present study demonstrates the high rate of discordancy between USG and autopsy examination in cases complicated by NIHF. Foetal autopsy confirms the USG findings (quality control/audit), adds additional findings or changes the final diagnosis, which helps in redefining the recurrence risk and plausible genetic counselling for future pregnancies. Hence present study underscores the need for autopsy in all cases of NIHF.

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24

Lou, Si Kei, Sarah Keating, Elena Kolomietz, and Patrick Shannon. "Diagnostic Utility of Pathological Investigations in Late Gestation Stillbirth: A Cohort Study." Pediatric and Developmental Pathology 23, no. 2 (2019): 96–106. http://dx.doi.org/10.1177/1093526619860353.

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Objective Near term unexpected stillbirth is a common, complex diagnostic challenge. We review a large cohort of near term to term gestation unexpected fetal deaths to document the common patterns of pathology and evaluate the utility of various standard autopsy procedures. Methods A total of 123 perinatal autopsies consisting of 94 intrauterine fetal deaths (IUFDs) and 29 intrapartum deaths (IPDs) were reviewed. Deaths were classified according to the laboratory investigations establishing cause of death. Results Cause of death was attributable to placental pathology without autopsy in 55.3% of IUFD and 17% of IPD. Correlative findings at autopsy increased the ability to establish cause of death in 86.2% of IUFD and 62% of IPD. Histology was largely corroborative, with the brain, lungs, and heart demonstrating significant changes in 46%, 34.5%, and 13.8%, respectively. Microbiology was corroborative but demonstrated single organism growth in 6 of 29 cases of fatal acute chorioamnionitis. Newborn metabolic screening revealed only elevated thyroid-stimulating hormone levels in 3 cases, of questionable relevance. Aneuploidy was established by screening molecular studies in 5 IUFDs, all of which had external or visceral dysmorphism. Karyotype was established in 69 cases and was not contributory in any of the IPD: 3 IUFDs had changes of unknown significance. Cause of death was not established at autopsy in 9% of IUFD and 10% of IPD. Discussion This is the largest uniformly investigated cohort of late gestation unexpected fetal deaths studied. We confirm the importance of both placental and fetal autopsy in establishing cause of death. Autopsy histology, microbiology, and cytogenetics provide important but largely corroborative data.

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Kang, Xin, Teresa Cos, Meriem Guizani, Mieke M. Cannie, Valérie Segers, and Jacques C. Jani. "Parental acceptance of minimally invasive fetal and neonatal autopsy compared with conventional autopsy." Prenatal Diagnosis 34, no. 11 (2014): 1106–10. http://dx.doi.org/10.1002/pd.4435.

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26

McInnes, Matthew, Katherine Fong, Andrea Grin, et al. "Malformations of the Fetal Dural Sinuses." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 36, no. 1 (2009): 72–77. http://dx.doi.org/10.1017/s031716710000634x.

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Background:Dural sinus malformation (DSM) is a term used to describe congenital vascular malformations characterized by massive dilation of one or more dural sinuses: these dilatations are typically associated with arteriovenous shunts. Such malformations can present antenatally but their early natural history and anatomy is poorly defined.Methods:We reviewed five years of autopsy experience and retrieved three primary vascular malformations of the fetal dural sinuses with ultrasound, magnetic resonance imaging (MRI) and post-mortem correlation.Results:Fetal ultrasound and MRI obtained between 19 and 23 weeks gestational age demonstrated in all cases dilation of the dural sinuses. In two cases vascular thromboses were present in either the dilated dural sinus (one of three) or the associated arteriovenous fistula (one of three). All cases were autopsied at 22-23 weeks gestational age. In one there was imaging and autopsy evidence of remodeling of the dural sinuses associated with a pial arteriovenous fistula. In two cases, no arteriovenous malformation was identified on initial imaging, but only became evident at autopsy. One case showed morphological overlap with vein of Galen aneurysmal malformation, with a midline arteriovenous shunt and vein of Galen ectasia. The other demonstrated a perisylvian dural arteriovenous fistula.Conclusion:In utero thrombosis of feeding vascular malformations or of the dural sinus malformation may be prominent. The early in utero developmental trajectory of dural sinus malformation (DSM) is poorly defined and deserves further study.

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27

Cohen, Marta C., Martyn N. Paley, Paul D. Griffiths, and Elspeth H. Whitby. "Less Invasive Autopsy: Benefits and Limitations of the Use of Magnetic Resonance Imaging in the Perinatal Postmortem." Pediatric and Developmental Pathology 11, no. 1 (2008): 1–9. http://dx.doi.org/10.2350/07-01-0213.1.

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The decline in the postmortem (PM) autopsy rate in the United Kingdom paralleled the change in public perception of this procedure after the organ retention crisis in 2000. The introduction of magnetic resonance imaging (MRI) in the fetal, perinatal, and pediatric autopsy led some investigators to propose that MRI could replace the conventional PM. We assessed the role of MRI in fetal autopsy as an addition or a potential replacement method to the conventional PM and to evaluate the benefits and limitations of each technique. We retrospectively reviewed the PM and MRI examination of 100 fetuses. The MRI was limited to the brain or brain and spinal cord. Forty-six cases involved termination of pregnancy; 30 were intrauterine fetal deaths/stillbirths; 16 were premature deliveries followed by neonatal death; and 8 were miscarriages. The mean gestational age of all cases was 25.54 weeks (range: 13–41 weeks). In 54 of the 90 full PMs, there was a complete agreement between the MRI and autopsy findings on the morphology of the brain and spine. Despite this agreement, the information gained at the PM was relevant to find the cause or mechanism of death in 20 of 54 cases (37%). In 24 autopsies the MRI added valuable information to the autopsy. However, if MRI had been the only investigation, essential information would have been lost in 17 of 24 cases (71%). In 12 cases the PM was clearly superior to the MRI. The integrated result obtained from the traditional autopsy remains crucial in determining the cause or mechanism of the malformation or of the fetal/perinatal death and accordingly is important for the counseling offered to parents regarding the recurrence risk for future pregnancies.

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Agarwal, Arjit, Shubhra Agarwal, Astha Lalwani, Rehana Najam, and Ashutosh Kumar. "Fetal bradyarrhythmia causing hydrops fetalis: A journey from fetal echo to autopsy." Ultrasound 28, no. 4 (2020): 266–70. http://dx.doi.org/10.1177/1742271x20933996.

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Introduction Non-immune hydrops fetalis is a condition with poor fetal prognosis. The incidence of this clinical condition is increasing as compared to its iso-immune variant. The diagnosis of hydrops fetalis is straightforward; however, delineating the primary cause of non-immune hydrops fetalis requires a holistic approach and background knowledge of the entity. Case report We present a case of non-immune hydrops fetalis due to a rare functional cardiac disorder demonstrated by features of cardiac failure in the form of clinically significant tricuspid regurgitation detected on echocardiography. Fetal autopsy supported the diagnosis by excluding any structural anomaly. Discussion Non-immune hydrops fetalis may be due to structural and non-structural cardiac anomalies. Meticulous work-up is required to establish the diagnosis in such cases. Conclusion The case also highlights the systematic approach as well as the series of investigations required for the early diagnosis and management of such cases.

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29

Désilets, Valérie, Luc Laurier Oligny, R. Douglas Wilson, et al. "Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities With Normal Karyotype." Journal of Obstetrics and Gynaecology Canada 33, no. 10 (2011): 1047–57. http://dx.doi.org/10.1016/s1701-2163(16)35055-1.

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Pavlicek, Jan, Zdenek Tauber, Eva Klaskova, et al. "Congenital fetal heart defect - an agreement between fetal echocardiography and autopsy findings." Biomedical Papers 164, no. 1 (2020): 92–99. http://dx.doi.org/10.5507/bp.2019.042.

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B., Dr Pushpa, Dr Subitha S, and Dr Lokesh Kumar V. "Study on various congenital anomalies in fetal autopsy." International Journal of Medical Research and Review 4, no. 9 (2016): 1667–74. http://dx.doi.org/10.17511/ijmrr.2016.i09.26.

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32

Mathai, Alka Mary, Ritesh G. Menezes, Suneet Kumar, Muktha R. Pai, Amritha Bhandary, and Valerie A. Fitzhugh. "A fetal autopsy case of body stalk anomaly." Legal Medicine 11, no. 5 (2009): 241–44. http://dx.doi.org/10.1016/j.legalmed.2009.06.004.

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Jessy, J. P., A. Kaur, M. Sharma, A. Huria, and S. Kochar. "A case of chondrodysplasia punctate on fetal autopsy." Journal of the Anatomical Society of India 66 (August 2017): S86. http://dx.doi.org/10.1016/j.jasi.2017.08.271.

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Prabhala, Shailaja, Padmaja Korti, Jayashankar Erukkambattu, and Ramamurti Tanikella. "FETAL AUTOPSY STUDY OVER A TWO YEAR PERIOD." Journal of Evolution of Medical and Dental Sciences 04, no. 14 (2015): 2263–69. http://dx.doi.org/10.14260/jemds/2015/328.

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35

Sakamoto, Akira, Kenji Matsuo, Kioko Kawai, et al. "FETAL ASCITES A Report of 3 Autopsy Cases." Pathology International 37, no. 9 (1987): 1527–35. http://dx.doi.org/10.1111/j.1440-1827.1987.tb02274.x.

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36

Khurana, Shruti, Vikram Saini, Vibhor Wadhwa, and Harveen Kaur. "Meckel–Gruber syndrome: ultrasonographic and fetal autopsy correlation." Journal of Ultrasound 20, no. 2 (2017): 167–70. http://dx.doi.org/10.1007/s40477-016-0231-4.

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Opsjøn, Bente Ediassen, and Christina Vogt. "Explaining Fetal Death—What are the Contributions of Fetal Autopsy and Placenta Examination?" Pediatric and Developmental Pathology 19, no. 1 (2016): 24–30. http://dx.doi.org/10.2350/15-03-1614-oa.1.

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Blecher, Y., D. Kidron, K. Krajden Haratz, G. Malinger, and R. Birnbaum. "OC18.09: From fetal neurosonography to autopsy: comparative analysis of fetal corpus callosum malformations." Ultrasound in Obstetrics & Gynecology 56, S1 (2020): 52–53. http://dx.doi.org/10.1002/uog.22337.

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Pacheco, M. Cristina, and Robyn C. Reed. "Pathologist Effort in the Performance of Fetal, Perinatal, and Pediatric Autopsies: A Survey of Practice." Archives of Pathology & Laboratory Medicine 141, no. 2 (2016): 209–14. http://dx.doi.org/10.5858/arpa.2015-0531-oa.

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Context.—Autopsy is an important tool for quality assurance and improving patient care. Fetal, perinatal, and pediatric autopsies have the additional benefit of identifying conditions that may have increased risk of recurrence. In contrast to adult autopsies, special collections and testing are frequently used. Pathologist effort in fetal, perinatal, and pediatric autopsy has not been well documented. Objective.—To prospectively quantify pathologist time required to complete fetal, perinatal, and pediatric autopsies, and to gather information on special studies and whether or not a cause of death was identified. Design.—The Society for Pediatric Pathology Practice Committee disseminated a survey to pathologists to complete for each autopsy performed. Surveys recorded age/gestation, time spent on chart review, prosection, and microscopy, special testing performed, time spent on a discussion or presentation of findings, and whether a cause of death was found. Results.—We report results of 351 surveys. Pathologist effort in fetal cases was, on average, 5.9 hours; in perinatal cases, 9.8 hours; and in pediatric cases, 15.4 hours. Reflecting complexity, a total of 603 collections for ancillary studies were performed, most commonly karyotype, frozen tissue, and microbiology cultures. A cause of death was identified in 295 of 351 cases (84%). Most cases were presented at conferences. Conclusions.—Fetal, perinatal, and pediatric autopsies are time intensive and frequently complex. They have high clinical value, guiding risk assessment and reproductive decision-making by families. Understanding the time contribution by pathologists allows departments and hospitals to predict staffing.

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Sun, Chen-Chih J., Kathryn Grumbach, Donna T. DeCosta, Carol M. Meyers, and Jeffrey S. Dungan. "Correlation of Prenatal Ultrasound Diagnosis and Pathologic Findings in Fetal Anomalies." Pediatric and Developmental Pathology 2, no. 2 (1999): 131–42. http://dx.doi.org/10.1007/s100249900101.

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This retrospective study compared the prenatal ultrasound (US) diagnosis with autopsy findings in 61 intact fetuses following induced abortion and 36 fragmented fetuses from dilatation and evacuation (D&E). In intact fetuses, complete agreement between US diagnosis and autopsy findings was achieved in 65.6% of cases in the central nervous system (CNS) and 47.5% in other somatic organ systems (SOS). There were major differences between US and autopsy findings involving the CNS in 6.5% of cases and SOS in 27.9%. Correlation was better for evaluation of renal anomalies (complete agreement in 63.6% of 11 suspected cases, 2 false-positive and no false-negative cases) than congenital heart disease (complete agreement in 27.3% of 11 suspected cases, 5 false-positive and 3 false-negative cases). In D&E specimens, a prenatal diagnosis of neural tube defect (NTD) was confirmed in 90% of cases. However, due to fragmentation of fetal parts, the US diagnosis in the CNS could not be confirmed totally (69.4%) or partially (2.8%) in fetuses with chromosomal abnormalities (ChA) or multiple congenital anomalies (MCA). Nonetheless, the US diagnosis of SOS was confirmed in six cases on D&E, including Meckel-Gruber syndrome, cystic hygroma, renal agenesis with contralateral renal dysplasia, cardiac defect, fetal hydrops, and tracheal atresia. Our results show that a thorough autopsy of an intact fetus after abortion is necessary to confirm prenatal diagnosis and allow proper management and counseling. The pathologic examination of D&E specimens can reliably confirm the US diagnosis of NTD, but it is very limited in identifying other fetal anomalies.

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Woodward, P. J., R. Sohaey, D. P. Harris, et al. "Postmortem fetal MR imaging: comparison with findings at autopsy." American Journal of Roentgenology 168, no. 1 (1997): 41–46. http://dx.doi.org/10.2214/ajr.168.1.8976917.

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42

Bolineni, Chandrika, Ezhil Arasi Nagamuthu, and Neelaveni Neelala. "Fetal Autopsy of Meckel Gruber Syndrome –A Case Report." Fetal and Pediatric Pathology 32, no. 5 (2013): 387–93. http://dx.doi.org/10.3109/15513815.2013.768741.

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43

Shen-Schwarz, Susan, Carol Neish, and Lyndon M. Hill. "Antenatal Ultrasound for Fetal Anomalies: Importance of Perinatal Autopsy." Pediatric Pathology 9, no. 1 (1989): 1–9. http://dx.doi.org/10.3109/15513818909022327.

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44

Duval, Hélène, Laurence Michel-Calemard, Marie Gonzales, et al. "Fetal anomalies associated withHNF1Bmutations: report of 20 autopsy cases." Prenatal Diagnosis 36, no. 8 (2016): 744–51. http://dx.doi.org/10.1002/pd.4858.

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Votino, C., T. Cos Sanchez, B. Bessieres, et al. "Minimally invasive fetal autopsy using ultrasound: a feasibility study." Ultrasound in Obstetrics & Gynecology 52, no. 6 (2018): 776–83. http://dx.doi.org/10.1002/uog.14642.

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Aabadli, A., B. Bessieres, and F. Razavi. "OP09.09: Ultrasound fetal virtual autopsy: an artificial water surrounding." Ultrasound in Obstetrics & Gynecology 46 (September 2015): 79. http://dx.doi.org/10.1002/uog.15186.

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Kaur, A. "Radiological diagnosis of achondrogenesis type 2 on fetal autopsy." Journal of the Anatomical Society of India 65 (September 2016): S138. http://dx.doi.org/10.1016/j.jasi.2016.08.454.

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Butler, Daniel C., W. Bailey Glen, Cynthia Schandl, and Angelina Phillips. "Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy." Pediatric and Developmental Pathology 23, no. 4 (2019): 301–5. http://dx.doi.org/10.1177/1093526619890224.

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Abstract:

Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth. Multisystem blue, ground glass inclusions initially presumed artefactual were periodic acid-Schiff positive, diastase resistant. Chromosomal microarray analysis identified a deletion of exons 2 through 16 of the GBE1 gene and whole exome sequencing identified a nonsense mutation within exon 14, confirming the diagnosis of GSD IV. A strong index of suspicion was required determine GSD IV as the ultimate cause of death, illustrating the need for critical evaluation of postmortem artifact in the setting of fetal demise of unknown etiology and highlighting the role of postmortem molecular diagnostics in a subset of cases.

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Oliver, Emily A., Kara M. Rood, Marwan Maʼayeh, Vincenzo Berghella, and Robert R. Silver. "Stillbirth and Fetal Autopsy Rates in the United States." Obstetrics & Gynecology 135 (May 2020): 166S. http://dx.doi.org/10.1097/01.aog.0000664004.95365.1c.

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Piercecchi-Marti, M. D., A. Liprandi, S. Sigaudy, et al. "Value of fetal autopsy after medical termination of pregnancy." Forensic Science International 144, no. 1 (2004): 7–10. http://dx.doi.org/10.1016/j.forsciint.2004.01.022.

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