Prenatal sonographic appearance of foramina parietalia permagna.

Foramina parietalia permagna (FPP) is an extremely uncommon congenital defect, inherited as an autosomal dominant condition. Its characteristics are two symmetrical orifices in the parietal bones (not of fixed size) on both sides of the midline. This defect does not affect either the psychic or the physical development of the affected person. This paper describes the sonographic appearance of FPP in utero as an enlargement of the posterior fontanelle.

Progestin challenge test in postmenopausal patients.

OBJECTIVES: The purpose of this study is to analyze the characteristics of patients identified with the progestin test. METHODS: We administered the progestin challenge test to 157 postmenopausal women and compared the characteristics of the patients who bled, with those who did not. RESULTS: Bleeding occurred in 14.01% of cases and we found that the number of patients who bled were significantly and independently more overweight, had higher levels of plasma estradiol, had a clear presence of superficial cells in the vaginal epithelium and had been menopausal for fewer years than those who did not bleed. CONCLUSIONS: We concluded that the test identifies women at risk from hormone-related endometrial cancer.

[Prenatal diagnosis of holoprosencephaly with postaxial polydactyly, cardiopathy with normal karyotype]. / Pränatale Diagnostik der Holoprosenzephalie mit postaxialer Polydaktylie, Kardiopathie bei normalem Karyotypus.

Holoprosencephaly is a malformation complex, in which the foetal forebrain (prosencephalon) fails to cleave. The aetiology of holoprosencephaly is heterogeneous. In the last years, a new malformation syndrome has been described, including holoprosencephaly, postaxial polydactyly, congenital heart defects and normal karyotype. In this report, a new case of this syndrome, prenatally diagnosed, is discussed, based on ultrasound and foetal blood sampling. The important implications are pointed out in relation to adequate genetic counselling.

Alobar holoprosencephalic embryo detected via transvaginal sonography.

The incorporation of high-frequency transvaginal probes in commercial ultrasonic equipment allows now for the earlier detection of fetal malformations and the possibility of interrupting pregnancy when such an anomaly is incompatible with postnatal life. We describe here a case of alobar holoprosencephaly associated with serious facial anomalies, diagnosed via transvaginal sonography during the 10th week of amenorrhea. A cytogenetic study was carried out by transabdominal chorial biopsy and diagnostic confirmation by necropsy was made after termination. In order to be able to counsel patients on the advisability of future pregnancies we stress the importance of making a cytogenetic study of the embryo.

Prenatal ultrasound semiography of anencephaly: sonographic-pathological correlations.

A better understanding of the ultrasound findings in each of the different types of fetal anencephaly can help to reduce the number of false-negative diagnoses of this condition during the prenatal period. Errors in the estimation of the remaining cerebral tissue (angiomatous stroma, area cerebrovasculosa) can cause false-negative diagnoses or diagnostic confusion with cases of microcephaly or incomplete ossification of the cranial vault. In a retrospective study, 30 fetuses with anencephaly (diagnosed at 13-38 weeks of gestation) were grouped, in terms of their ultrasound results, according to the Nanagas classification. The ultrasound diagnoses were then correlated with those found through autopsy, to identify any errors in the ultrasound classification.