[Comparative study of diagnostic hysteroscopy and transvaginal ultrasonography in patients with abnormal uterine hemorrhage during the peri- and post-menopausal period]. / Studio comparativo tra isteroscopia diagnostica ed ecografia transvaginale in pazienti con sanguinamento uterino anomalo in epoca peri- e postmenopausale.

BACKGROUND: The aim of this study was to determine the diagnostic value of hysteroscopy and transvaginal ultrasonography in patients with abnormal uterine bleeding (AUB) in the peri and postmenopausal period. METHODS: 302 patients with AUB, underwent hysteroscopy and in 86 cases, also a transvaginal ultrasonography before hysteroscopy was performed. Results were compared with the histological diagnosis. RESULTS: The diagnostic accuracy of hysteroscopy was very high in the cases of endometrial carcinoma (sensibility 100%, specificity 99%), and lower in the cases of endometrial hyperplasia (sensibility 69%, specificity 72%) and endometrial atrophy (sensibility 29% and specificity 97%). Sonography proved to be less reliable in the diagnosis of endometrial pathology (carcinoma: sensibility 57%, specificity 100%, hyperplasia: sensibility 62.5% specificity 63%). The results of this study show that sonography may be used as a first choice diagnostic test in the investigation of women with AUB. CONCLUSIONS: Hysteroscopy represent a second diagnostic step for achieving a proper histologic diagnosis.

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A.

A branch of a highly inbred family was referred for prenatal counseling with an initial misdiagnosis of Becker Muscular Dystrophy (BMD) due to the limited clinical and laboratory data obtained in pre-dystrophin era and hidden family information. In a second branch of the family with a diagnosis of limb-girdle muscular dystrophy type 2A (LGMD2A) molecular studies revealed a homozygous 550 delta A mutation in the calcium-activated neutral protease 3 (calpain 3, CANP3) gene in the affected members. Finally, in the third branch of the family, it turned out that both parents were heterozygous for the 550 delta A mutation and the 13-week-old fetus was homozygous. The same mutation subsequently also was found in the first branch of the family. The parents were informed that the risk of their child of developing the disease would be very high given that he was carrying the same homozygous mutation of the other affected members. They were informed also that in another population (in Reunion Island) the same disease does not necessarily follow such a simple pattern of inheritance. After counseling the parents decided to terminate the pregnancy.

[Fetal diaphragmatic hernia. Clinical and prognostic considerations and early diagnosis]. / Ernia diaframmatica fetale. Considerazioni clinico-prognostiche e diagnosi precoce.

Fetal diaphragmatic hernia depends on a retarded closing during the first trimester of pregnancy of embryological structures in the chest that lead to the formation of diaphragmatic muscle. The defect occurs in form 1:2,000 to 1:5,000 livebirths and it is associated with other structural abnormalities (neural tube defects, cleft lip/palate, omphalocele, cardiopathy, etc). In 20% of cases it is associated with a chromosomal syndrome. Antenatal ultrasonic diagnosis has been reported, at 18-40 weeks of pregnancy. We describe a case of early diagnosis, at 17 weeks of pregnancy, of fetal diaphragmatic hernia by ultrasound. Plexus choroid cysts were detected too and fetal karyotyping resulted 47XX + 18. Prognosis of pregnancy in all cases of fetal diaphragmatic hernia is poor because fetal and neonatal losses are very heavy.

[Cysts of the choroid plexus: personal experience]. / Cisti dei plessi corioidei. Nostra esperienza.

Twenty-six cases of fetal choroid plexus cysts were diagnosed using ultrasonography at the Ultrasound Out-patients clinic of the University of Turin during the period 1989-1991. In 21 of these cases fetal karyotype was ascertained since, as has been reported in the literature, cysts of the choroid plexus may be associated with an anomalous karyotype (trisome 18 or 21). One of the 21 cases had an altered karyotype (trisome 21) (4.2%). The Authors stress the importance of a detailed ultrasound study of fetal morphology since, in the presence of structural anomalies, the incidence of trisome 18 is much higher. On the basis of these data, prenatal diagnosis in the event of the echographic presence of choroid plexus cysts appears to be valid since the risk of chromosome anomalies is much higher than in 35-year-old women.

[Massive subchorionic fibrin deposit: echographic diagnosis]. / Deposito massivo subcoriale di fibrina: diagnosi ecografica.

Intra-placental sub-chorionic fibrin deposition is a frequent finding but generally does not involve alterations of hemodynamics or the organ's gaseous metabolism. If the deposition is massive, as in the two cases reported here, delayed fetal growth may occur due to altered placental function. Diagnosis using ultrasound is useful both to identify fibrin plaques and to identify possible fetal hypo-development.