[Measurement of the infrapubic angle using 3D perineal ultrasound and its relationship to obstetrical parameters]. / Die Messung des infrapubischen Winkels in der 3-D-Perineal-Sonografie und seine Beziehung zu geburtshilflichen Parametern.

PURPOSE: Ultrasound has achieved an indispensable role in urogynecology. The introduction of 3 D technology has enabled sonographers to visualize structures in the axial plane. The angle of the infrapubic arc may enable us to presume the shape of the pelvis. Our aim was to describe a method for measuring the infrapubic angle and the interpubic space with 3 D perineal ultrasound through 3 D rotation, correlating them with the length of the 2nd stage of labor and the rate of levator defects. MATERIALS AND METHODS: Women after vaginal delivery were recruited and underwent a 3 D perineal ultrasound on 2nd - 3 rd day postpartum. Volume datasets were analyzed to measure the infrapubic angle and the interpubic space independently by 2 urogynecologists. The interobserver reliability and the correlation between infrapubic arc angle and the length of the 2nd stage of labor and the occurrence of levator defects were calculated. RESULTS: 110 women were enrolled. With a correlation coefficient of 0.76, the relationship between the infrapubic angle measurements of the two observers was very good. A moderate to good correlation was found for the assessment of the interpubic gap, with r = 0.69. Between the infrapubic angle and length of the 2nd stage of labor, no statistical correlation for both observer measurements (p = 0.31; p = 0.78, respectively) was found. Also the correlation between the infrapubic arc angle and the occurrence of levator avulsions was not significant (p = 0.59; p = 0.39, respectively). CONCLUSION: 3 D ultrasound technology enables us to identify and evaluate the interpubic gap and the infrapubic arc with a high inter-observer reproducibility. However, from our data, the infrapubic angle does not seem to influence the length of the 2nd stage of labor and the occurrence of levator defects.

Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.

Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents.