Aims: To examine the prevalence of chromosomal defects and outcome of fetuses with megacystis at 10-14 weeks of gestation.
Methods: At the 10-14-week scan fetal megacystis was defined by a longitudinal bladder diameter of 7 mm or more. In 145 such fetuses the fetal karyotype and pregnancy outcome were examined in relation to the longitudinal diameter of the fetal bladder.
Results: Chromosomal defects, mainly trisomies 13 and 18, were present in 30 cases. In the group with longitudinal bladder diameter of 7-15 mm the incidence of chromosomal defects was 23.6% (26/110), whereas in those with bladder diameter > 15 mm the incidence was 11.4% (4/35). The fetal nuchal translucency (NT) was above the 95th centile of the normal range for crown-rump length in a higher proportion of cases with abnormal rather than normal karyotype (76.7% compared to 31.3%; Chi-square P < 0.0001). The expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 6.2 rather than the observed 2 and the corresponding numbers for trisomies 13 or 18 were 4.2 for expected and 24 for observed. In the chromosomally normal group with longitudinal bladder diameter of 7-15 mm follow-up scans demonstrated spontaneous resolution of the megacystis in 90% of the cases and enlargement of the megacystis and/or the development of echogenic kidneys in 10%. In contrast, none of the cases with bladder diameter > 15 mm demonstrated spontaneous resolution of the megacystis.
Conclusions: In fetal megacystis with longitudinal bladder diameter of 7-15 mm there is a risk of about 25% that the fetus will have a chromosomal defect but in the chromosomally normal group there is spontaneous resolution of the megacystis in about 90% of cases. If the bladder diameter is > 15 mm the risk of chromosomal defects is about 10% and in the chromosomally normal group the condition is invariably associated with progressive obstructive uropathy.
Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.