VP15.03: Correlation between prenatal ultrasound and fetal autopsy findings: a retrospective study of second trimester termination of pregnancy

Abstract

Virtual poster abstractsMethods: This was a prospective cohort observational study that included 228 fetuses, of which there were 15 cases of hypoplastic left heart syndrome (HLHS), 21 cases of an atrioventricular septal defect (AVSD), 15 cases of a double inlet ventricle, 14 cases of tricuspid atresia, 11 cases of tricuspid valve dysplasia, including Ebstein anomaly, 24 cases of d-transposition of the great arteries (TGA), 15 cases of tetralogy of Fallot, 12 cases of double outlet right ventricle (DORV), 25 cases of pulmonary stenosis or atresia, 6 cases of aortic valve stenosis (AS), 43 cases of coarctation of the aorta (CoA) or interrupted aortic arch, 25 cases of isolated right aortic arch, and 2 cases of isolated anomalous pulmonary venous connection (APVC). Results: Developmental abnormalities of the CC were revealed in 15 (6.6%) fetuses, which included 1 case of complete and 2 cases of partial agenesis of the CC, 10 cases of dysgenesis or hypoplasia of the CC, 1 case of a combination of hypoplasia of the CC and cerebellar vermis, and 1 case of a combination of sulcation anomaly with hypoplasia of the CC. The frequency of callosal anomalies, depending on the type of CHD, was 26.7% (4/15) in cases of tetralogy of Fallot; 6.6% (1/15) in cases of HLHS, 16.7% (2/12) in cases of DORV; 4.6% (2/ 43) in cases of obstructive aortic arch lesions; 8% (2/25) in cases with right aortic arch; 7.1% (1/14) of cases with tricuspid atresia; 4.8% (1/21) in cases of AVSD; 4% (1/25) in cases of pulmonary stenosis or atresia. In one of two fetuses with isolated APVC, hypoplastic corpus callosum was also revealed. Conclusions: Based on these preliminary data, we can conclude that fetuses with congenital heart defects are at high risk for callosal abnormalities, and further research in needed to obtain more clinical data and subsequent interpretation of postnatal results.

Confirmation of Heart Malformations in Fetuses in the First Trimester Using Three-Dimensional Histologic Autopsy

“…22 The studies throughout the literature note that perinatal autopsy performed in the second or third trimester serves not only as an audit for prenatal ultrasound examination findings but also identifies additional anomalies. [23][24][25] The same statement may now be applied to the first trimester using this technique. Histologic 3D imaging reconstruction allowed us to identify the ultrasound-detected anomalies in a small but diverse series of cases (cardiac chambers and conotruncal anomalies) and facilitated the diagnosis of additional findings (hypertrophic cardiomyopathy and fibroelastosis in the hypoplastic left heart syndrome case, bicuspid aortic valve and the anatomical variant of the thymus in the atrioventricular septal defect case, and the branching variation of the coronary arteries in the transposition of the great arteries case) 26,27 that could not have been established by ultrasonography at the time of the first-trimester scan.…”

“…Histologic 3D imaging reconstruction also provides an opportunity to retain specific slices for supplementary special stains, which can aid in evaluating the fetal heart 38 or add valuable information to standard autopsy. 24 , 39 , 40 In the hypoplastic left heart syndrome case, we improved the diagnosis by detecting endocardial fibroelastosis 41 , 42 and characterized the associated hypertrophic cardiomyopathy. This finding is important in clinical care, because the literature suggests a genetic component of this disease 43 as well as an association with maternal anti-Ro and anti-La antibodies.…”