RESUMO
Among developed countries, valvular aortic stenosis (AS) in pregnant women is primarily due to a congenitally bicuspid aortic valve, which occurs in approximately 1% of the general adult population. Most asymptomatic patients and those with mild to moderate AS can be managed conservatively to full-term pregnancy. However, those with more severe AS with symptoms require more aggressive treatment. The medical management of severe symptomatic AS is not ideal; hence, these women are typically treated with percutaneous balloon valvuloplasty or surgical aortic valve replacement. However, both interventions are associated with inherent risks. In addition, symptoms such as dyspnea and decreased exercise tolerance are commonly exhibited in normal pregnant women, making it difficult to distinguish symptoms associated with normal pregnancy from those caused by AS. We report the first case of congenitally bicuspid severe AS in pregnancy that was successfully managed medically to full term by following consecutive brain natriuretic peptide levels.
RESUMO
Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cytogenetic analysis of terminal chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations.
