RESUMO
OBJECTIVES: The purpose of this study was to determine whether the morphologic characteristics and area of the semilunar valves in healthy fetuses and fetuses with cardiac defects can be visualized by using spatiotemporal image correlation (STIC). METHODS: Spatiotemporal image correlation volumes from 74 healthy fetuses were recorded in 5 examinations between the 15th and 36th weeks of pregnancy. Second, we recorded STIC volumes from 64 fetuses with various cardiac defects. The quality of the volumes was rated. The areas of the aortic and pulmonary valves were measured in systole by rendering the valves on 4-dimensional sonography. The number of leaflets was examined. Longitudinal data analysis using linear mixed models was performed. RESULTS: Two hundred ninety-three volumes from normal hearts were examined. In 82.5%, the quality of the normal volumes was sufficient. Visualization of the valve opening was feasible in 96.1% of the normal hearts and 97.4% of the abnormal hearts. The success rate of visualization of the pulmonary and aortic valve leaflets was dependent on the gestational age, with the highest percentage (72.1% in normal hearts) at 19 to 24 weeks. Longitudinal regression analysis showed a positive relationship of the aortic and pulmonary valve areas with gestational age (P < .0001) and fetal biometric measurements (P < .0001). Fifty-eight abnormal volumes were examined. Cardiac defects with abnormal valve areas due to aortic and pulmonary stenosis could be clearly visualized by using STIC. CONCLUSIONS: Examination of the morphologic characteristics of the semilunar valves using STIC is feasible, which is difficult when using 2-dimensional sonography. With increasing implementation of 4-dimensional sonography, the understanding of rendered images might be useful for anyone practicing fetal echocardiography.
Assuntos
Valva Aórtica/anormalidades , Valva Aórtica/diagnóstico por imagem , Ecocardiografia Quadridimensional/métodos , Valva Pulmonar/anormalidades , Valva Pulmonar/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Valva Aórtica/embriologia , Estudos de Viabilidade , Feminino , Humanos , Aumento da Imagem/métodos , Masculino , Valva Pulmonar/embriologia , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Congenital heart disease is present in 44-56% of fetuses with Down syndrome (DS). There are, however, signs that hearts in DS without apparent structural heart defects also differ from those in the normal population. We aimed to compare the atrioventricular (AV) septum and valves in 3 groups: DS without AV septal defect (DS no-AVSD), DS with AVSD (DS AVSD) and control hearts. METHODS: The ventricular septum, membranous septum and AV valves were examined and measured in histological sections of 15 DS no-AVSD, 8 DS AVSD and 34 control hearts. In addition, the ventricular septum length was measured on ultrasound images of fetal (6 DS AVSD, 9 controls) and infant (10 DS no-AVSD, 10 DS AVSD, 10 controls) hearts. RESULTS: The membranous septum was 3 times larger in DS no-AVSD fetuses compared to control fetuses, and valve dysplasia was frequently (64%) observed. The ventricular septum was shorter in patients with DS both with and without AVSD, as compared to the control group. CONCLUSION: DS no-AVSD hearts are not normal as they have a larger membranous septum, shorter ventricular septum and dysplasia of the AV valves as compared to control hearts.
Assuntos
Síndrome de Down/patologia , Coração Fetal/patologia , Valvas Cardíacas/patologia , Septo Interventricular/patologia , Estudos de Casos e Controles , Síndrome de Down/diagnóstico por imagem , Ecocardiografia , Coração Fetal/diagnóstico por imagem , Valvas Cardíacas/diagnóstico por imagem , Proteínas Hedgehog/metabolismo , Humanos , Miocárdio/metabolismo , Fatores de Transcrição/metabolismo , Septo Interventricular/diagnóstico por imagem , Proteína GLI1 em Dedos de ZincoAssuntos
Artéria Pulmonar/anormalidades , Artéria Pulmonar/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Artéria Braquial/anormalidades , Artéria Braquial/diagnóstico por imagem , Consanguinidade , Permeabilidade do Canal Arterial/complicações , Permeabilidade do Canal Arterial/diagnóstico por imagem , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Cuidado Pós-Natal , Gravidez , Artéria Pulmonar/cirurgia , Procedimentos Cirúrgicos VascularesRESUMO
Chromosomal abnormalities involving an interstitial or a terminal deletion of 3q26.33 and/or 3q27 have rarely been described. Here we report on a fetus of 22+1 weeks' gestational age with severe intrauterine growth restriction and multiple abnormalities detected by ultrasound examination. Post-mortem molecular cytogenetic investigation (array-comparative genomic hybridization) identified a de-novo interstitial â¼6.17 Mbp microdeletion of 3q26.33q27.3. The clinical and molecular findings in this patient are compared with the previous literature on cases with overlapping interstitial 3q-deletions (seven cases in total). The common phenotype observed in patients with a microdeletion involving 3q26.33q27.3 includes severe prenatal and postnatal growth retardation (including microcephaly), developmental delay, central nervous system anomalies, and several facial characteristics (abnormally shaped ears, broad nasal tip, epicanthal folds, micrognathia/retrognathia, short philtrum). No genotype-phenotype correlation could be established for severe (intrauterine) growth retardation. We conclude that deletions of 3q26.33q27.3 are associated with a profoundly abnormal phenotype, with severe intrauterine growth retardation as its most striking feature.