Objective: To investigate the morphology and genetics of a fetus at 22 weeks. This fetus demonstrated progressive fetal hydrops and cardiomegaly with retrograde flow in the pulmonary artery and progressive myocardial deterioration and heart failure. Methods: Postmortem examination, light and electron microscopy of the myocardium, karyotyping, fetal DNA analysis, screening for mutations in the G4.5 gene, α-dystrobrevin gene, FKBP 12 gene, Desmin, Syntrophin and Cypher/ZASP genes, which have been described as being associated with noncompaction ventricular myocardium, using single-strand DNA conformation polymorphism analysis and DNA sequencing. Results: The morphological diagnosis was compatible with noncompaction ventricular myocardium or spongyforme myopathy. The karyotype was normal. Mutation analysis in exons and introns of all six genes did not show any known mutation. Conclusion: Noncompaction ventricular myocardium or spongyforme myopathy may be associated with mutations in genes which have previously not been thought to be associated with this phenotype. Alternatively, this disease could be the result of abnormal cardiac hemodynamics.
Objectives: To assess the possibility to correct for fetal anemia using an intracardiac approach in twin pregnancies affected by fetal Parvovirus B19 infection. Methods: A monochorionic twin pregnancy affected by fetal Parvovirus B19 infection and hydrops was treated using an intraabdominal approach and by intracardiac transfusions. Access to the umbilical cord was not possible. Results: In one fetus, hydrops resolved after intraabdominal transfusions, in the other however, hydrops was progressive. After intracardiac transfusions, both fetuses normalized. Conclusions: In multiple gestation affected by anemia, intracardiac transfusion is a possible and alternative technique, if access to the cord is impossible.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.