During the study period, 24,492 pregnant women attended the Harris Birthright Research Centre at 10-14 weeks of gestation, at which time, in addition to the measurements of nuchal translucency thickness and crown-rump length (CRL), data on fetal abnormalities were recorded onto a computer database. Cases of megacystis were identified and the records were reviewed. Additionally, the relationship of the longitudinal bladder diameter with the CRL and the bladder diameter/CRL ratio (expressed as a percentage) were examined with the use of data from 300 normal fetuses at 10-14 weeks. Megacystis was present in 15 of the 24,492 pregnancies (1 in 1,633) and in these cases the minimum longitudinal bladder diameter was 8 mm and the minimum bladder diameter/CRL ratio was 13%. In the 300 control fetuses the bladder was visualized in 278 (92.7%) of the cases and the longitudinal bladder diameter increased with the CRL (bladder diameter = 0.065 x CRL - 0.69; r = 0.47, p < 0.001), none of the measurements was more than 6 mm and the median bladder diameter/CRL ratio was 5.4% (range 0-10.4%) which did not change significantly with gestation (r = 0.1, p = 0.09). The bladder was visible in all cases with a minimum CRL of 67 mm. In three of the 15 cases with megacystis, there were chromosomal abnormalities. In the chromosomally normal group, there were seven cases with spontaneous resolution, whereas in four cases there was progression to severe obstructive uropathy. The bladder diameter was 8-12 mm and the bladder diameter/CRL ratio 13-22% in all cases with resolution and in one case with progressive megacystis; in the other three cases with progressive obstruction, the bladder length was more than 16 mm and the bladder diameter/CRL ratio was more than 28%.

The early fetal ultrasound assessment at 11 - 13(+6) weeks of gestation remains the cornerstone of care despite the progress in diagnosing fetal chromosomal defects using cell-free fetal DNA (cffDNA) from the maternal circulation. The measurement of nuchal translucency (NT) allows the risk calculation for the fetal trisomies 21, 18 and 13 but also gives information on those fetal chromosomal defects which are at present unable to be detected using cffDNA. Nuchal translucency is the only auditable parameter at 11 - 13(+6) weeks and gives thus information on the quality of the first trimester anomaly scan. In addition it gives indirect information on the risks for fetal defects and for cardiac anomalies. Also the chances for a healthy live baby can be estimated. As experience with first trimester anomaly scanning increases, and the resolution of the ultrasound equipment has increased substantially, more and more details of the fetal anatomy become accessible at the first trimester scan. Therefore fetal anatomical defects and complex anomalies have become amenable to examination in the first trimester. This guideline describes compulsory and optional parameters for investigation at the first trimester scan and outlines a structured method of examining a first trimester fetus at 11 - 13(+6) weeks of gestation.

PP13 needs to be studied further as our results contrast the majority of previous studies.