We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a ...fetus with a karyotype of 47,XX,+9,t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.
Primary umbilical endometriosis represents a very rare localization of the disease and is represented by blue, papular, nodular or cystic lesions whose symptoms are related to ovarian cycle. We ...report the management of three women, free of surgical antecedents presenting with primary umbilical endometriosis. In each woman, abdominal laparoscopy revealed peritoneal pelvic endometriosis. The excision of umbilical lesions was performed with satisfactory esthetical outcomes. In our experience, umbilical endometriosis responsible for highly characteristic features appears playing the role of clinical marker for pelvic endometriosis.
The American Institute of Ultrasound in Medicine convened a panel of physicians and scientists with interest and expertise in 3‐dimensional (3D) ultrasound in obstetrics and gynecology to discuss the ...current diagnostic benefits and technical limitations in obstetrics and gynecology and consider the utility and role of this type of imaging in clinical practice now and in the future. This conference was held in Orlando, Florida, June 16 and 17, 2005. Discussions considered state‐of‐the‐art applications of 3D ultrasound, specific clinical situations in which it has been found to be helpful, the role of 3D volume acquisition for improving diagnostic efficiency and patient throughput, and recommendations for future investigations related to the utility of volume sonography in obstetrics and gynecology.
