Objective To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis of skeletal dysplasias in a prenatal population from a single tertiary center. (88% and 89%, respectively) at the first diagnostic examination. Methods

The enrichment of fetal erythroblasts from the peripheral blood of pregnant women is currently actively pursued for the development of a non-invasive means of prenatal diagnosis. Since erythroblasts in maternal blood are not all of fetal origin, and currently no reliable method exists to distinguish between the maternal and fetal erythroblasts, their use for prenatal diagnosis is not without uncertainty. The purpose of this study was to determine the percentage of fetal erythroblasts in maternal blood at the single cell level and to what extent such cells can reproducibly be used for polymerase chain reaction (PCR)-based prenatal diagnostic analyses. Erythroblasts were enriched from the peripheral blood of rhesus negative pregnant women using magnetic cell sorting (MACS). Single erythroblasts identified morphologically were individually micromanipulated and analysed by a multiplex PCR reaction for the fetal SRY and rhesus D genes. As a control for the PCR reaction the beta-globin gene was used. The PCR results were validated by the results obtained by invasive procedures. In all instances where single erythroblasts were examined, the correct fetal genotype for the two fetal specific loci was detected. Furthermore, our results indicate that approximately 50% of the enriched erythroblasts are of fetal origin.

Objective To compare the sonographic findings of the nasal bone in fetuses with trisomy 21 with pathomorphological findings to determine whether the bone is truly absent.Methods Seventeen first-trimester fetuses with trisomy 21 were identified; the median gestational age was 12 weeks (range, 11-14) and the median maternal age was 38 (range, 27-47) 'present' and 'absent', but instead between 'normal' and 'hypoplastic'. For reproducible results it is necessary to standardize the sonographic examination. The sonographic landmarks of the fetal nose are: the nasal bone, the skin above and the cartilaginous tip of the nose.

In Germany, Austria and Switzerland the results of screening for chromosomal defects by measurement of fetal nuchal translucency thickness, in centers with appropriately qualified sonographers and using The Fetal Medicine Foundation's software, are similar to those reported in the UK using the same methodology.

The lack of B19V-IgG in fetuses with B19V-derived anemia or hydrops is most likely due to a limited materno-fetal transfer of IgG and a poor fetal antibody response. Fetal B19V infection is poorly controlled in the absence of specific antibodies.

3D ultrasound can be used to study the fetal spine, but skeletal mode can be inconclusive for the diagnosis of fetal spina bifida. We illustrate a diagnostic approach using 2D and 3D ultrasound and indicate possible pitfalls.

A notable degree of research attention is being focused on the use of fetal cells enriched from the blood of pregnant women as a non-invasive means of prenatal diagnosis. By using magnetic activated cells sorting (MACS) and fluorescence in situ hybridization (FISH), we have examined the efficacy of enriched fetal cells in determining fetal sex. An unexpected finding of this investigation was that the sensitivity of this analysis was influenced by the anticoagulant used to treat the maternal blood samples. As such, samples treated with heparin showed significantly lower detection rates than samples chelated with EDTA.

Objectives: To evaluate the accuracy of endometrial volume measurement and three-dimensional power Doppler analysis (3D-PDA) in the diagnosis of endometrial carcinoma and endometrial hyperplasia in women with post-and perimenopausal bleeding. Methods: Some 56 women with postmenopausal and 89 with perimenopausal bleeding were enrolled. All were scheduled for hysteroscopy, dilatation and curettage, endometrial sampling or hysterectomy, and the ultrasound scan was performed within 24 h before the procedure. Endometrial thickness, endometrial volume, vascularity index (VI), flow index (FI) and vascularity-flow index (VFI) were measured. These parameters were compared between the group of women with normal histology (including endometrial polyps) and the pathological group (carcinoma and hyperplasia with or without atypia). Results: Ninety women (62%) had normal histology, 26 (17.9%) had an endometrial polyp, 18 (12.5%) hyperplasia and 11(7.6%) had endometrial carcinoma. Mean endometrial thickness was 11 mm and 15.5 mm in the normal and pathological groups respectively (P < 0.005). The mean endometrial volume was 6.87 mL and 15.5 mL in the two groups respectively (P < 0.001). The VI was 2.27% and 2.95% in the two groups respectively (P = 0.022). The FI was 18.6 and 23.6 in the two groups respectively (P = 0.014). The VFI was 0.68 and 0.89 in the two groups respectively (P = 0.018). The area under the ROC curve was 0.698, 0.728, 0.621, 0.631, and 0.625 for endometrial thickness, endometrial volume, VI, FI and VFI respectively. The best predictor of endometrial carcinoma was an endometrial volume of 3.56 mL or more (sensitivity 93.1%, specificity 36.2%). Conclusions: Endometrial volume and 3D-PDA are good diagnostic tools in predicting endometrial carcinoma and hyperplasia in women with post-and perimenopausal bleeding.