Prenatal diagnosis of congenital granular cell epulis.

Congenital granular epulis is a benign tumor that has rarely been diagnosed prenatally, although there have been numerous reports on its postnatal diagnosis. We report a case of large granular epulis diagnosed at 31 weeks' gestation in a woman whose previous anomaly scan had been normal. The lesion was 2.5 cm in diameter, pedunculated, and arose from the maxilla. It was completely surgically removed following preterm vaginal birth and histologically examined. The tumor did not prevent deglutition of the amniotic fluid and did not interfere with feeding or respiration, but prevented complete closure of the lips. We discuss the fetal management and the theories of histogenesis, and highlight the importance of early diagnosis and treatment.

Heterotopic pregnancy in a woman without previous ovarian hyperstimulation: ultrasound diagnosis and management.

Heterotopic pregnancy (HT) in the absence of a previous ovarian hyperstimulation is a very rare condition. Transvaginal ultrasonography (TV) in the case of first trimester pelvic pain allows a high diagnostic reliability in the identification of HT and a successful conservative treatment by means of TV potassium chloride injection.

On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome.

A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

Ovarian varicocele: ultrasonic and phlebographic evaluation.

The aim of this work is to suggest a new diagnostic approach to the "female varicocele syndrome" which utilizes transvaginal ultrasonography. The presence of circular or linear anechogenic structures with a diameter greater than 5 mm, which were found in transverse and oblique sections of the lateral fornices, was indicative of pelvic varices. The vascular nature of these structures was confirmed with the Valsalva's maneuver and in the upright position. The presence of "pelvic varices" was confirmed by retrograde phlebography of the left ovarian vein in 46% of the cases. In such cases the parity was greater than in subjects without "pelvic varices" (chi square = 12.75, p less than 0.001), and the principal symptoms were characterized by pelvic pains and menstrual cycle disorders.

Radiologic anatomy of the genital venous system in female patients with varicocele.

The diagnosis of varicocele in a female patient is difficult clinically. Until recently, only celioscopy and uterine phlebography were helpful. We have developed a new method for diagnosis of the pelvic varicocele using retrograde phlebography of the ovarian and iliac veins. Thirty-three women with pelvic pains and disorders of the menstrual cycle have been studied. In 15 patients, an insufficiency of the left ovarian vein was revealed. In three of the patients, an analogous insufficiency of the right ovarian vein was also recognized, along with chronic bilateral stasis in the pampiniform plexes. An insufficiency of the left iliac vein was present in seven of the patients without ovarian varicocele. The average age of the women without ovarian reflux was lower (22.5 years) than that of women with reflux (36.6 years) (p less than 0.01). In this last group of patients, the number of pregnancies was greater (30 children) than in the group without reflux (two children) (chi-square = 12.75; p less than 0.001). This indicates how parity plays an important role in the determination of the appearance of a varicocele. We conclude that the diagnosis of pelvic varicocele may be made by a new diagnostic method represented by retrograde phlebography of the ovarian and iliac veins. The use of it in patients with chronic pelvic pains and disorders of the menstrual cycle of unknown nature can be done routinely.

Prenatal diagnosis of abdominal wall defects.

The antenatal diagnosis of omphalocele and gastroschisis is briefly reviewed, together with the major differences between the two lesions. The frequency of associated anomalies in cases of omphalocele is stressed. The controversy regarding the mode and timing of delivery is outlined.

Isoenzymic analysis of fifteen non-lysosomal enzymes in human chorionic villi.

The electrophoretic pattern of 15 non-lysosomal enzymes was established in human chorionic villi sampled at 8-12 weeks of gestation from 30 women requesting legal abortion. The product of 23 genes was detected at this stage of development. Trophoblast cells are mitotic derivates from the zygote. Thus, chorionic villi have the same genetic constitution as the embryo. Establishing the normal isoenzymatic patterns in fetal life is of wide theoretical and biological interest. In particular, it contributes to the understanding of gene modulation and the differential activity of alleloenzymes during early embryogenesis and development. In addition, the possibility is suggested that in the future electrophoresis analysis can be used in conjunction with quantitative enzyme assay for the fetal diagnosis of specific metabolic disorders involving one or more isoenzymes.