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UOG Journal Club: October 2012 Postmortem examination of human fetal hearts at or below 20 weeks’ gestation: a comparison of high-field MRI at 9.4 T with lower-field MRI magnets and stereomicroscopic autopsy C. Votino, J. Jani, M. Verhoye, M. Verhoye, B. Bessieres, Y. Fierens, V. Segers, A. Vorsselmans, X. Kang, T. Cos, W. Foulon, J. de Mey and M. Cannie. Volume 40, Issue 4, Date: October 2012, pages 437–444 Journal Club slides prepared by Dr Wellington P Martins (UOG Editor for Trainees) Most common abnormality ≈ 0.8% One of the leading causes of infant mortality Congenital heart disease (CHD) High % can be detected by prenatal ultrasound Improved ultrasound = 1st trimester diagnosis Hoffman and Kaplan S. J Am Coll Cardiol 2002; Lombardi et al. Ultrasound Obstet Gynecol 2007 Impact of early prenatal diagnosis of CHD Option of pregnancy termination Planned birth Improved neonatal outcome Franklin et al. Heart 2002; Thayyil et al. Prenat Diagn 2010 Termination of pregnancy after early prenatal diagnosis of CHD Accurate postmortem diagnosis Proper pregnancy counseling Thayyil et al., Prenat Diagn 2010 Postmortem diagnosis • Conventional/invasive autopsy – Gold standard for postmortem diagnosis – Parents acceptance is poor • Whole body MRI as an alternative – 1.5 T MRI introduced a decade ago • Limited use for CHD in small fetuses • Relatively low resolution – 9.4 T MRI has improved resolution • Diagnostic accuracy almost equivalent to invasive autopsy Cannie et al., Ultrasound Obstet Gynecol 2012; Brookes et al., Lancet 1996 Postmortem examination of human fetal hearts at or below 20 weeks’ gestation: a comparison of high-field MRI at 9.4 T with lower-field MRI magnets and stereomicroscopic autopsy Votino et al., UOG 2012 Objective To compare the diagnostic usefulness of high-field (9.4 T) with lower-field (1.5 T and 3.0 T) MRI against the gold standard of stereomicroscopic autopsy for the postmortem examination of the fetal heart in fetuses ≤ 20 weeks’ gestation. Votino et al., Ultrasound Obstet Gynecol 2012 Subjects Fetuses ≤ 20 weeks, with any abnormality on prenatal ultrasound; parents opted for termination of pregnancy (TOP) (n=22) Fetuses ≤ 20 weeks, spontaneous miscarriage, heart beat detected when admitted to hospital (n=2). Total = 24 fetuses (14 normal and 10 with CHD) • • • • abnormal four-chamber view (n=9) abnormal outflow tracts (n=4) abnormal aortic arch (n=3) abnormal systemic venous return (n=2) Votino et al., Ultrasound Obstet Gynecol 2012 Methods Fetuses were cryopreserved at −20ºC until MRI and stereomicroscopic invasive autopsy. The MRI scans were performed with: 1.5T whole-body magnet: Siemens Avanto 3.0T whole-body magnet: Philips Achieva 9.4T horizontal bore: Biospec 94/20 USR Votino et al., Ultrasound Obstet Gynecol 2012 MRI postmortem evaluation MRI performed by three different operators blinded to the prenatal scan findings Single radiologist evaluated the MRIs • • • • 10 years’ experience in fetal and postmortem MRI Offline analysis of acquired volumes Following order: 1.5 T, 3.0 T, and 9.4 T 1-month delay between readings Votino et al., Ultrasound Obstet Gynecol 2012 Invasive autopsy Invasive autopsies were conducted and/or supervised by a single pathologist with 20 years’ experience in fetal pathology and 12 years in cardiac fetal pathology Unaware of results of prenatal scan and MRI findings Votino et al., Ultrasound Obstet Gynecol 2012 Results: image quality 1.5 T 3.0 T 9.4 T Ability to visualize different fetal heart structures (n=24) Situs 4 chamber Outflow tracts Aortic arch Systemic veins 1.5 T 62.5% 25.0% 0.0% 0.0% 0.0% 3.0 T 70.8% 45.8% 4.2% 0.0% 0.0% 9.4 T 100.0% 100.0% 100.0% 83.3% 79.2% Votino et al., Ultrasound Obstet Gynecol 2012 Results: sensitivity in detecting CHD Retro-esophageal subclavian artery Ventricular septal defect Atrioventricular septal defect Transposition of the great arteries Ventricular hypoplasia Tetralogy of Fallot 1.5 T 3.0 T 0 0 0 0 0 0 0 0 0 0 0 0 9.4 T Autopsy 0 1 1 (20%) 5 1 (50%) 2 1 (100%) 1 1 (50%) 2 2 (100%) 2 9.4 T MRI examination also diagnosed two cases of ventricular septal defect (VSD) not confirmed by invasive autopsy Votino et al., Ultrasound Obstet Gynecol 2012 Key findings For the postmortem examination of the fetal heart before 20 weeks’ gestation: 1.5 T or 3.0 T MRI seem to be limited 9.4 T MRI seems to be able to detect major CHD However, its limited availability makes it less attractive for widespread clinical use Votino et al., Ultrasound Obstet Gynecol 2012 Limitations Small sample size • Only a small variety of CHD was examined Some fetuses were frozen/thawed before MRI • This can possibly interfere with image quality • Could compromise integrity of tissue structure • Improved image quality for the fetal heart Only non-macerated fetuses were examined • Limited the generalizability of the findings • Ideal conditions will not always be possible Votino et al., Ultrasound Obstet Gynecol 2012 Discussion points • Is first-trimester ultrasound diagnosis of fetal congenital heart disease accurate enough to help parents decide on termination of pregnancy? • Is the postmortem diagnostic confirmation necessary for future pregnancy counselling and management? • Are the current imaging methods accurate/reliable for postmortem investigation of fetal congenital heart diseases? • Is the accuracy of congenital heart disease by postmortem imaging methods better than that obtained by prenatal ultrasound? • Is the conventional postmortem examination currently a well accepted procedure by parents? • Is postmortem examination limited to imaging methods only more or less likely to be accepted by parents? Votino et al., Ultrasound Obstet Gynecol 2012