Endometriosis at all ages: diagnostic ultrasound.

Endometriosis is a gynecological disease affecting about 10% of the female population. The multifactorial hormonal, inflammatory, genetic, mental and behavior pathogenesis can result in chronic pelvic pain, blooding disorders and infertility causing disruption of quality of life. Correct diagnosis of the extension and topography is substantial in defining the adequate therapeutic strategy. In an increasing proportion of the cases, endometriosis is being managed medically and para-medically; diagnostic or therapeutic surgery can often be avoided or delayed. Transvaginal sonography is considered being the first-line imaging method in the diagnosis of pelvic endometriosis. The paradigm shift from the belief that endometriosis only affects women of reproductive age has drawn attention to endometriosis in both premenarchal and postmenopausal patients. This review resumes the actually recommended ultrasound signs in the case of patients in menstrual age. Specific diagnostic approaches in adolescent and menopausal patients are highlighted.

Ultrasound screening of ovarian cancer.

Ovarian cancer has a high mortality rate. The most common serous type spreads rapidly throughout the peritoneal cavity when 5-year survival is 10%. If diagnosed in earlier stages where the cancer is still confined to the ovary, this survival rate is about 90%. This is the reason to be interested in screening at earlier stages in the average-risk general population. Thus, annual transvaginal ultrasound (TVS) alone or as a multimodal screening test following serum carbohydrate antigen 125 (CA125) has been investigated. Ultrasound lacks sensitivity and specificity; new contrast-enhanced approaches might improve these. When the serum marker is combined with ultrasound and interpreted by a rise in the level rather than by a fixed cut-off, improved sensitivity and specificity and a late but not significant reduction in mortality are observed. Further investigations could highlight the interest of a shorter than annual screening, of a long-term follow-up and new contrast-enhanced ultrasound techniques.

Prenatal assessment of the antero-posterior jaw relationship in human fetuses: from anatomical to ultrasound cephalometric analysis.

OBJECTIVES: We wished to develop an ultrasound cephalometric analysis, particularly of the antero-posterior jaw relationship, to increase the accuracy of prenatal diagnosis of retrognathism during the routine midterm test. METHODS: Anatomical cephalometric analysis was performed in 18 formalin-fixed human fetuses (between 16 and 39 gestational weeks), and ultrasound cephalometry was prospectively carried out in 52 pregnant women (21 to 25 gestational weeks). The same landmarks were used in the anatomical and ultrasound median sagittal planes for comparison. Four cephalometric angles were measured relative to the anterior cranial base: alveolar projection of the maxilla and the mandible, chin projection, and facial angle. The antero-posterior jaw discrepancy was calculated. RESULTS: The projection of the maxilla was similar in the two cephalometric analyses (IC [-3.39, 0.23]), whereas the values of the projection of the mandible were lower in the ultrasound sample. The slope of the regression line of the antero-posterior jaw discrepancy on fetuses' age did not show significant differences (IC [-0.05, 1.54]) between anatomical and ultrasound cephalometry, although a difference of 3.23° ± 0.78° (IC [1.69, 4.77]) was observed. Despite this variability, the projections of mandible and chin were well determined by the projection of the maxilla both in the anatomical and ultrasound sample. CONCLUSIONS: Cephalometric analysis by prenatal sonography can be performed to study the antero-posterior jaw relationship. We think that this procedure could be useful to improve prenatal diagnosis of retrognathism in high-risk pregnancies. Further studies should address the reproducibility and accuracy of such analysis.

Anatomy and growth of the fetal soft palate: a cadaveric study to improve its ultrasonographic observation.

OBJECTIVE: To determine the anatomy of the soft and hard palate during fetal growth in order to improve its ultrasonographic prenatal visualization. DESIGN: Anatomic study in human formalin-fixed fetus. METHODS: The heads of 18 second and third trimester fetuses were studied in the median sagittal plan. Measurements of the soft palate, the velopharynx, the root of the tongue, and the oral floor were taken. The hard palate/soft palate angle and the anterior cranial base/soft palate angle were measured. RESULTS: The growth of the hard palate was linear, and the growth of the soft palate was polynomial (second order) during the period studied. The hard palate/soft palate angle was 150.33 degrees +/- 7.62 and 150.20 degrees +/- 6.67 in the second and third trimester, respectively. The anterior position of the soft palate in relation to the anterior cranial base was 48.8 degrees +/- 3.13 in the second trimester and 52.26 degrees +/- 3.31 in the third trimester. Its posterior position was 89.66 degrees +/- 5.51 in the second trimester and 92.97 degrees +/- 4.01 in the third trimester. Throughout the fetal period, the soft palate moved downward relative to the clivus and cervical spine. CONCLUSIONS: Despite the nonlinear growth and downward displacement of the soft palate during fetal life, its position remains stable. These results may be useful to explore the fetal soft palate using 2D and 3D ultrasonography and to improve the prenatal diagnosis of isolated cleft palate.

Prenatal diagnosis of an isolated incomplete V-shaped cleft palate using a new three-dimensional ultrasound technique investigation.

OBJECTIVE: The objective of this case report is to evaluate the faculty of a recently described original three-dimensional ultrasound technique to detect pathological processes of the fetal palate. METHOD: The palate of the fetus of a patient with a personal history of isolated incomplete cleft palate is evaluated by three-dimensional ultrasound at 34 weeks of gestation. The postnatal findings are compared to the prenatal investigation. RESULT: The used three-dimensional ultrasound technique provides selective visualization of the total hard palate which permits the prenatal diagnosis and multidisciplinary approach of an incomplete cleft palate. CONCLUSION: These prenatal findings might encourage further studies to confirm the value of this recently described innovative technique in the diagnosis and surgical prenatal counselling of fetal cleft palate.

New mutation in the platelet beta3-integrin gene: implication for the diagnosis of fetomaternal alloimmunization.

BACKGROUND: Fetal ventriculomegaly is a relatively common finding and fetomaternal alloimmune thrombocytopenia may be one of the causes. STUDY DESIGN AND METHODS: Such a case discovered at 21 weeks of gestation leading to platelet (PLT) immunologic testing is reported here. PLT genotyping was performed by polymerase chain reaction (PCR)-sequence-specific primers (SSPs) method and PCR-restriction fragment length polymorphism (RFLP) analysis. Serologic investigation was done with the monoclonal antibody-specific immobilization of PLT antigens technique. RESULTS: The mother was found to be HPA-1b homozygous and the father HPA-1a homozygous with PCR-SSP, but the mother was found to be HPA-1 heterozygous by phenotyping. This result was confirmed by PCR-RFLP. Sequencing of the glycoprotein IIIa exon 3 revealed a heterozygous mutation 262T > C, which does not induce an amino acid change. It is localized in the sequence of the antisense primer of the HPA-1 PCR-SSP, inducing the sole amplification of the DNA copy bearing the HPA-1b allele. CONCLUSION: Even if such mutations are a rare event, PLT phenotyping is still of interest to avoid rare false PLT typing assignation, the unknown polymorphism being only discovered by such a combination of techniques.