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.

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. Copyright © 2002 John Wiley & Sons, Ltd.

We report the detection of a sex chromosome mosaicism (XY/XXY/XYY) by prenatal interphase FISH (fluorescence in situ hybridization) originally identified as a pseudomosaicism involving 47,XXY cells present in a routine 46,XY cytogenetic analysis. After a fetal demise, interphase FISH identified the sex chromosome mosaicism in all tissues examined while cytogenetic analysis revealed only a normal male cell line. After prolonged exposure to colcemid, cytogenetic analysis identified the 47,XXY cell line. This confirmed the presence of the mosaicism and suggested that the abnormal cell line(s) may have been growth disadvantaged. This in turn may have accounted for the intra‐uterine fetal demise. The identification by FISH and the role of growth‐disadvantaged cell lines may provide a unique insight into chromosomally normal fetal demises. Copyright © 1999 John Wiley & Sons, Ltd.

A prospective multicentre study was performed to identify patients with fetal choroid plexus cysts and examine the association between choroid plexus cysts and chromosome abnormalities in the context of variables such as maternal age, serum triple-screen results, race, other prenatally-identified fetal anomalies and cyst characteristics. A total of 18 437 scans were performed in 5 centres and 257 fetuses were identified with choroid plexus cysts. Outcome was available on 250 patients, and of these, chromosomal abnormalities were detected in a total of 13 (5.2 per cent) fetuses. 26 patients in the group had additional ultrasound abnormalities, and 8 of these had fetal chromosome abnormalities. Among the 224 patients with isolated choroid plexus cysts, 5 (2.2 per cent) were found to have chromosomal abnormalities. All cases with identified chromosomal abnormalities were associated with an additional risk factor, such as other ultrasound findings, advanced maternal age or abnormal maternal serum triple-screen results.