Investigating perinatal death: a review of the options when autopsy consent is refused

Wright, Christopher; Lee, Richard

doi:10.1136/adc.2003.022483

Cited by 57 publications

(39 citation statements)

References 36 publications

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“…9,19 The various options available for investigations in this situation was reviewed in a recent article. 19 Post-mortem MR imaging has a useful role in providing structural information of the central nervous system in fetuses and stillbirth neonates.…”

Section: Discussionmentioning

confidence: 99%

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

Sankar

Phadke

2006

J Perinatol

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Objectives: To present a comprehensive analysis of autopsy findings in 206 fetuses referred to our genetic center and to assess the clinical utility of fetal autopsy in reaching a final diagnosis, which is essential for counseling regarding the risk of recurrence. We also compared the autopsy findings with prenatal ultrasound findings to evaluate the potential benefit of fetal autopsy in fetuses terminated after prenatal diagnosis of malformations.Study design: Retrospective review of patient records in a tertiary referral genetic center in North India during 5-year period (April 2000-March 2005. This includes 206 fetuses, 138 terminated after detecting an anomaly in ultrasonogram and 68 spontaneous fetal losses. In all cases, fetal autopsy was carried out and complimented by radiography, karyotype wherever possible and histopathological examination wherever necessary. In fetuses with prenatally diagnosed malformations, ultrasound findings were compared with autopsy findings.Results: Fetal autopsy was able to provide a definite final diagnosis in 59% (122/206) cases. Fetal autopsy confirmed the ultrasound findings in all cases but two. Moreover, autopsy provided additional findings in 77 cases and of these, 24 cases had a significant change of recurrence risk. Conclusion:This study confirms the utility of fetal autopsy in identifying the cause of fetal loss, which will help in the genetic counseling of the couple. In cases with prenatally diagnosed anomalies, the new information from fetal autopsy changes the predicted probability of recurrence in 18% cases. Even though the prenatal ultrasonogram reasonably predicts the malformations, fetal autopsy gives significant additional malformations in one-third of the cases and is essential for genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

Sankar

Phadke

2006

J Perinatol

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“…Noninvasive components of fetal autopsy-external examination, examination of placenta, cord, cytogenetic and metabolic laboratory investigations and imaging (radiographs, photography), MRI, CT are some of the options available for investigating perinatal deaths when the family declines to give consent for standard autopsy [5,6]. In a developing country like India, the use of MRI routinely in postmortem fetal examination is not possible because of lack of resources and high cost and also because of lack of specialists.…”

Section: Discussionmentioning

confidence: 99%

At Least an Infantogram if not Perinatal Autopsy

Deka

Naha

Dadhwal

et al. 2014

Journal of Fetal Medicine

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To study the feasibility and value of postmortem fetal infantogram (X-ray film) in pregnancies terminated for prenatally diagnosed fetal congenital malformations and stillborn fetuses with congenital anomalies. Forty-two fetuses were diagnosed antenatally by ultrasonography to have fetal congenital malformation, 36 couples opted for medical termination of pregnancy (MTP) and intrauterine death (IUD) occurred in six cases. Informed written consent for autopsy including infantogram was given by 41 couples, one couple permitted only radiographs. On infantogram, the antenatal ultrasound diagnoses were confirmed in all the cases of central nervous system anomalies, but were not useful for genitourinary anomalies or cardiac anomalies. In five cases of antenatally suspected skeletal anomalies, radiographs changed the diagnosis of thanatophoric dwarf to osteogenesis imperfecta type llC in one case and achondrogenesis type 1B in another case. Infantogram made the syndromic diagnosis in three cases-sirenomelia, Roberts syndrome and caudal regression syndrome. Congenital diaphragmatic hernia was diagnosed at infantogram in a case missed on ultrasound. In three cases of nonimmune hydrops, X-ray films correlated with ultrasound findings, but could not find the cause. If autopsy, the 'goal standard' test is refused or cannot be done, at least an infantogram should routinely be done in pregnancies terminated for prenatally diagnosed fetal congenital malformations and stillborn fetuses with congenital anomalies, as it is noninvasive, easily available and consent given. It may change the diagnosis and counseling for future pregnancies, hence very useful in perinatal medicine.

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“…Fetal autopsy is still regarded as the gold standard procedure for identification of fetal abnormalities 2,3 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 4,5 .This situation is now becoming more common as rates of fetal autopsy have dropped significantly in the UK in recent years 6 .…”

Section: Introductionmentioning

confidence: 95%

Fetal Dysmorphology

Clayton‐Smith

2012

Fet. Matern. Med. Rev.

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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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Investigating perinatal death: a review of the options when autopsy consent is refused

Cited by 57 publications

References 36 publications

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

At Least an Infantogram if not Perinatal Autopsy

Fetal Dysmorphology

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