Post-mortem MRI as an adjunct to fetal or neonatal autopsy

Griffiths, Paul D.; Paley, Martyn; Whitby, Elspeth

doi:10.1016/s0140-6736(05)74816-9

Cited by 112 publications

(62 citation statements)

References 7 publications

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“…Several groups, including our own, have shown that this is an acceptable method of defining foetal CNS malformations (for a review, see [11]). Although this may be an acceptable alternative in some situations, it is not acceptable to all families, and in some centres postmortem is not practicable.…”

Section: Discussionmentioning

confidence: 99%

The use of in utero MRI to supplement ultrasound in the foetus at high risk of developmental brain or spine abnormality

Griffiths¹,

Porteous²,

Mason³

et al. 2012

The British Journal of Radiology

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Objectives: It is widely accepted that the diagnosis of foetal central nervous system (CNS) abnormalities can be improved by performing MRI examinations in utero. Most of the published literature has concentrated on pregnancies in which a developmental abnormality has been detected (or suspected) on ultrasound in an otherwise low-risk pregnancy. In this paper, we test the hypothesis that in utero MRI of the foetal brain in high-risk pregnancies will detect abnormalities not shown by ultrasound at a rate that justifies its use in clinical practice. Methods: 100 females were recruited into the study from foeto-maternal or clinical genetic departments. They all had a foetus/child with a CNS malformation from an earlier pregnancy, which led to an increased risk of recurrence being quoted for the present pregnancy. All in utero MRI examinations were performed on 1.5 T clinical MRI systems at 18 weeks gestational age or later. Results: In 78% of cases, the ultrasound and MRI results agreed and showed no abnormality. In 13%, ultrasound and MRI described identical abnormal findings. In 9%, the ultrasound and MRI examinations had discrepant findings; in all these cases the MRI findings described more serious CNS pathology. The effects on management were judged to be major, by at least one assessor, in 7/9 of those cases. Conclusion: As in many other situations involving antenatal detection of CNS abnormalities, in utero MRI should be considered in females with increased risk of foetal CNS malformation based on the results of an earlier pregnancy. Advances in knowledge: In utero MRI of the foetus has an important role in antenatal diagnosis of females carrying a foetus with an increased risk of a brain abnormality. Central nervous system (CNS) malformations are among the commonest types of structural abnormalities diagnosed in utero and often have significant clinical sequelae post-natally. Many CNS malformations have been shown to have an increased recurrence risk in future pregnancies based on either a known genetic mechanism or, more commonly, by empirical observation. Females who have had such a foetus/child usually have detailed ultrasound examinations during the course of subsequent pregnancies, usually in the hope of reassuring parents that the current foetus is not affected. Many CNS pathologies present a diagnostic challenge for ultrasound in the second trimester and a search for improved methods of antenatal detection is a justifiable goal.In utero MRI (iuMRI) is used increasingly to detect CNS abnormalities in the foetus from 18 weeks gestational age onwards. iuMRI has several theoretical advantages over ultrasound, many of which are realisable in clinical practice. One of the most significant advantages is the improved contrast resolution of iuMRI, which is particularly pertinent for CNS imaging in order to define fluid, grey matter and developing white matter structures. There are several publications that indicate advantages in including iuMRI in the diagnostic pathway to define foetal neuropathology, in cas...

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Section: Discussionmentioning

confidence: 99%

The use of in utero MRI to supplement ultrasound in the foetus at high risk of developmental brain or spine abnormality

Griffiths¹,

Porteous²,

Mason³

et al. 2012

The British Journal of Radiology

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“…19 Post-mortem MR imaging has a useful role in providing structural information of the central nervous system in fetuses and stillbirth neonates. 20,21 Another promising alternative approach used in adult post-mortem investigation is the use of laparoscopic autopsy, which can be tried in perinatal autopsy. 21 These options are relatively costly.…”

Section: Discussionmentioning

confidence: 99%

“…20,21 Another promising alternative approach used in adult post-mortem investigation is the use of laparoscopic autopsy, which can be tried in perinatal autopsy. 21 These options are relatively costly. This retrospective study of 206 cases confirms the utility of fetal autopsy in identifying the cause of fetal loss, which will help in the genetic counseling of the couple.…”

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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“…This study found that, in 60% of cases, MRI had equivalent or better diagnostic sensitivity than conventional autopsy, but included only 20 patients. Since then, many other similar small-scale studies [16][17][18][19][20][21] have shown the potential of PMMR, particularly for the central nervous system (CNS) ( Table 1). Brain and spinal cord anomalies account for 20% of fatal congenital abnormalities in foetuses, and PMMR has a high sensitivity and specificity for detecting these abnormalities in foetuses.…”

mentioning

confidence: 99%

“…Brain and spinal cord anomalies account for 20% of fatal congenital abnormalities in foetuses, and PMMR has a high sensitivity and specificity for detecting these abnormalities in foetuses. 19,32 Several studies have also recently demonstrated that PMMR can be used to perform non-diagnostic tasks usually performed during autopsy, such as organ weight and volume estimation, 28,29,33 thus suggesting that it may be a suitable alternative to autopsy in some cases. Whole-body imaging and specific imaging in other body systems have not been fully evaluated until recently.…”

mentioning

confidence: 99%

Post-mortem MRI as an alternative to non-forensic autopsy in foetuses and children: from research into clinical practice

Addison¹,

Arthurs²,

Thayyil³

2014

BJR

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Although post-mortem MRI (PMMR) was proposed as an alternative to conventional autopsy more than a decade ago, the lack of systematic validation has limited its clinical uptake. Minimally invasive autopsy (MIA) using PMMR together with ancillary investigations has now been shown to be as accurate as conventional autopsy in foetuses, newborns and infants and is particularly useful for cerebral, cardiac and genitourinary imaging. Unlike conventional autopsy, PMMR provides a permanent three-dimensional auditable record, with accurate estimation of internal organ volumes. MIA is becoming highly acceptable to parents and professionals, and there is widespread political support and public interest in its clinical implementation in the UK. In the short to medium term, it is desirable that a supraregional network of specialist centres should be established to provide this service within the current National Health Service framework.

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Post-mortem MRI as an adjunct to fetal or neonatal autopsy

Cited by 112 publications

References 7 publications

The use of in utero MRI to supplement ultrasound in the foetus at high risk of developmental brain or spine abnormality

The use of in utero MRI to supplement ultrasound in the foetus at high risk of developmental brain or spine abnormality

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

Post-mortem MRI as an alternative to non-forensic autopsy in foetuses and children: from research into clinical practice

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