Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography.

Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. In fetuses with a heart defect, chromosomal abnormalities are very frequent. Besides aneuploidy, 22q11.2 deletion is one of the most recognizable chromosomal abnormalities causing CHD. The frequency of this abnormality varies in nonselected populations. This study aimed to investigate the incidence of the 22q11.2 deletion and other chromosomal alterations in a Brazilian sample of fetuses with structural cardiac anomalies detected by fetal echocardiography. In a prospective study, 68 fetuses with a heart defect were evaluated. Prenatal detection of cardiac abnormalities led to identification of aneuploidy or structural chromosomal anomaly in 35.3% of these cases. None of the fetuses with apparently normal karyotypes had a 22q11.2 deletion. The heart defects most frequently associated with chromosomal abnormalities were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), and tetralogy of Fallot. Autosomal trisomies 18 and 21 were the most common chromosomal abnormalities. The study results support the strong association of chromosome alterations and cardiac malformation, especially in AVSD and VSD, for which a chromosome investigation is indicated. In fetuses with an isolated conotruncal cardiopathy, fluorescence in situ hybridization (FISH) to investigate a 22q11.2 deletion is not indicated.

Arritmia cardíaca fetal: evolução no diagnóstico e terapêutica / Fetal cardiac arrhythmias: evolution in the diagnosis and therapy

Anormalidades do ritmo e frequência cardíaca são comumente encontradas na vida pré-natal. A maioria das arritmias ocorre devido a batimentos atriais ectópicos. Bradicardia ou taquicardia sustentada, que cursam com risco de vida e morbidade e mortalidade fetal e neonatal, são menos frequentes. Ecocardiografia Modo M e Dopplerecocardiografia têm significativa importância no diagnóstico das arritmias simples e complexas do feto e monitoração do tratamento pré-natal. Recentes avanços, como a Dopplerecocardiografia tecidual e a magnetocardiografia, têm adicionado recursos, melhorando o entendimento da fisiopatologia dos distúrbios do ritmo cardíaco. Informações obtidas com estes métodos contribuem para estabelecer o prognóstico, manuseio, tratamento, planejamento do parto e programação da assistência pós-natal. O diagnóstico e tratamento das arritmias constituem um dos grandes avanços da Cardiologia Fetal. Este artigo revisará as modalidades diagnósticas disponíveis para avaliação do ritmo cardíaco fetal, tipos de arritmias, impacto no resultado pré e pós-natal e opções de tratamento medicamentoso materno-fetal.