Sonographic prenatal diagnosis of intracranial fetus in fetu.

A case of sonographic prenatal diagnosis of a complex intracranial mass, with features of a fetus in fetu at 17 weeks' gestation, is reported. This diagnosis is reserved for a highly organized tumor containing a vertebral column and recognizable fetal parts and should be differentiated from a teratoma.

Myocardial dysplasia in a 3rd-trimester fetus. An ultrasound and pathologic study.

Arrested myocardial development, often described as spongiosum heart, has been reported in association with obstructive semilunar valve disease and, much more rarely, as a primary disease in adolescents and adults. To our knowledge, this condition has never been diagnosed in utero. We describe the echocardiographic and pathoanatomic findings of the 1st case of myocardial dysplasia detected in utero by ultrasound. A 28-year-old woman, gravida 2, para 1, was referred to our unit at 34 weeks of gestation due to severe fetal hydrops. On echocardiography, we observed gross fetal cardiomegaly (particularly of the septal and ventricular myocardium), an unusually bright myocardial echostructure, thick trabeculations in both ventricular chambers, and severe loss of myocardial contraction. There were normal ventriculoarterial connections and no signs of obstructive semilunar valve disease. After fetal death, necropsy confirmed the presence of spongiosum heart and the diagnosis of myocardial dysplasia--which term best describes this disorder in its various temporal expressions. Because this condition has never before been observed prenatally, no consideration has been given to intrauterine management. We recommend that fetal cardiac function be monitored echocardiographically whenever a pregnant patient has a positive family history of this disease. There is a possibility that the life of the affected fetus might be prolonged beyond the gestational period by avoiding intrauterine cardiac decompensation, through early delivery. We recommend further that the parents of these children be advised of the risks associated with future pregnancies. Little is known about the pattern of inheritance of myocardial dysplasia, but the disorder appears to be familial. Therefore, the possibility that it may recur within the same generation must be taken into account.

An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite.

We describe an unusual marker chromosome Y. This marker is present in 5% of the lymphocytes of a dysgenetic woman showing a mosaic karyotype 45,X/46,XY/47,XY+mar. Q-banding revealed that the marker was morphologically identical to the Y chromosome of the patient but presented the primary constriction in the heterochromatic region. C-banding confirmed that the heterochromatic region was C-positive; furthermore, it showed two spots in the euchromatic region in a position corresponding to that of the centromere in the normal Y. Fluorescence in situ hybridization with the centromere-specific probe pDP 97 and the pancentromeric alpha-satellite probe alpha 27 alpha 30 failed to detect any signal at the primary constriction site. To improve the characterization of the marker chromosome, hybridization was performed using pDP 105, a probe located on the short arm of the Y chromosome, together with chromosome-Y-specific paint-hybridizing to the single sequence spanning the Y short arm. In both cases, positive signals telomeric to the inactive centromere were observed. Possible mechanisms resulting in the formation of the marker chromosome are discussed.

Management of fetal cardiac structural abnormalities.

This paper reviews the incidence of and risk factors associated with congenital cardiac malformations. The management options available are then reviewed. These include a detailed accurate diagnosis of the lesion and a functional assessment of cardiac activity. The importance of detecting major chromosomal anomalies is stressed with abortion being offered to the parents of a fetus with chromosomal anomalies or a highly fatal defect. The lack of clear-cut data on which to base the indications for cesarean section in these patients is stressed.

Tamoxifen-induced regression of benign breast lesions.

Sixty-three patients with severe breast dysplasia were treated with tamoxifen, 10 mg/day from day 5 to day 25 of the menstrual cycle for 4 months. Lesions were assessed by mammography, thermography, and echography (A- and B-mode scanning). In 45 patients (71.43%) there was complete remission of symptoms and disappearance of lesions as assessed by echography and clinical examination. Some improvement was seen in 12 patients. In all but 2 of those in whom lesions disappeared completely, no recurrence was seen in 12 months after treatment was discontinued. Estrogen receptors were assayed in 10 patients, but were detected in none. A decrease of doubtful statistical significance was observed in some patients in basal and thyrotropin-releasing hormone (TRH)-stimulated levels of prolactin during the treatment period. No other significant or unequivocal change in endocrine parameters was observed during tamoxifen treatment.

[The echographic aspects of the foetal heart (author's transl)]. / Aspetti ecografici del cuore fetale.

In 15 pregnant women, during the last month of pregnancy, the heart of living human foetuses has been searched for with echocardiological techniques, using a multiple-crystal transducer. The single heart structures distinguished on the bidimensional image were picked out with a single ultrasonic ray and photographed with a Polaroid camera. The echocardiological image revealed of such structures is similar to that found in newborns. The aorta and the mitral valve have been registered in all cases. It has been possible, with minor frequency, to reveal the echoes of the tricuspid valve, of the interventricular septum, of the posterior wall of the left ventricle and of the pulmonary valve. The left atrium/aorta root relationship resulted almost always higher with regard to the values considered normal for newborns. The behaviour of the interventricular septum is of particular interest, as it always showed a normal movement. This report indicates that the functional load of the different heart cavities during the various phases of interuterine life is in perfect equilibrium, notwithstanding the substantial anatomical and functional modifications which occur during the course of foetal life. The Authors maintain that echocardiological methods could become indispensable in understanding the physiological and pathological aspects of foetal circulation.

Determination of fetal maturity and of development of the fetal lungs by means of combined methods.

The validity of the assessment of the fetal age and pulmonary maturity was evaluated on 369 patients at various stages of normal pregnancy and complicated by diabetes, toxemia and fetal anencephaly. Gestational maturity was assessed by ultrasonic measurement of the fetal biparietal diameter and by analysing constituents of amniotic fluid (creatinine, bilirubin, fat cells) while pulmonary maturity was assessed from the L/S ratio in the amniotic fluid. Each individual method has a wide margin of error, however, ultrasound cephalometry gave the best prediction for determination of fetal age. In 135 selected cases lung maturity was assessed by using two techniques, a thin layer chromatographic determination of the lecithin/sphingomyelin ratio in the amniotic fluid and a rapid semiquantitative test to determine the titre of surfactant which generates stable foam in presence of ethanol. The results obtained by the two methods correlated well and were reliable in predicting the respiratory distress syndrome. It appears that these methods make it possible to obtain greater margins of reliability. The role of fetal and maternal factors in the maturation of fetal lungs was also studied in several pathological conditions and it was noted that in many cases of maternal diabetes mellitus lung maturity was reached at a later age than in normal pregnancies. It is condluded that if termination of pregnancy is indicated, the physician should rely more on the assessment of lung maturity than on indicators of gestational age.