[Prenatal diagnosis of adenomatoid malformation of the lung. 5 cases and review of the literature]. / Diagnostic anténatal des malformations adénomatoïdes du poumon. Cinq observations et revue de la littérature.

The authors report five cases of adenomatoid malformation of the lung (AML) diagnosed in the antenatal period. Since 1977, when Stocker et al. published their classification of these malformations into three anatomical types, the ultrasonographic features have been well systematized, thereby enabling treatment to be modified according to the AML type. Type I and II have a good prognosis (about 20% of neonatal deaths) and only require close supervision. Thoracocentesis may be necessary in case of significant anasarca or hydramnios. The progression and prognosis of type III AML are very bad, since a favorable course is observed in only 10% of the foetuses. Intrauterine surgery has already been successfully attempted in on case and might modify the situation. Most authors are in favour of therapeutic abortion when signs of bad prognosis are present.

Fetal liver transplantation: biology and clinical results.

Over the last 18 years, we have developed the transplantation of fetal liver cells to treat severe immunodeficiencies, hematological disorders and inborn errors of metabolism. Post-natally, this treatment is successful in two-third of patients and it is therefore very valuable, especially when there is no perfectly matched donor for a bone marrow transplant. Since 1988 we have carried out these fetal liver transplants (FLTs) in utero, immediately after prenatal diagnosis. Engraftment and reconstitution have been obtained, and several advantages appear to be associated with in utero FLT: increased probability of graft take, ideal isolation of the patient (in the maternal uterus) and optimal environment for the differentiation of the transplanted fetal liver cells (in the fetal host).

[Prenatal screening for cysts of choroid plexus. Evolution and interpretation of 30 cases]. / Dépistage anténatal des kystes des plexus choroïdes. Evolution et interprétation de 30 observations.

The authors report thirty cases in which they diagnosed a cyst of the choroid plexus antenatally between the 18th and the 36th week of amenorrhoea (mean 21 weeks). Choroid plexus cysts show up in some pictures as round or oval cysts clearly visible in the region of the choroid plexus. They appear in the lateral cerebral ventricles. They frequently occur between the 15th and 25th week of amenorrhoea (0.6 to 2.5% of pregnancies), unilaterally or bilaterally (46%) either on the right of left side and varying in size (3 to 20 mm). These characteristics do not influence the way they evolve. If a single choroid plexus cyst is found a control ultrasound should be carried out four weeks later. 96% of them have disappeared by the end of the second trimester; but if they do persist in the third trimester (4%) they are not necessarily pathological. On the other hand if a choroid plexus cyst is associated with some other morphological biometric abnormality antenatal chromosome testing should be carried out because trisomy 18 is more common in this situation (4.8%) than in the general population.

[Sacrum abnormalities and neural tube closure defect: different manifestations of a same genetic disease?]. / Anomalies du sacrum et déficit de fermeture du tube neural: manifestations différentes d'une même maladie génétique?

The authors report the case of a full-term female infant exhibiting an anterior meningocele, combined with a hemi-sacrum and an anal dysfunction. Both her father and brother had the same although less pronounced abnormalities. The father's sister was anencephalic. This case, together with previously published data, suggests that sacrum malformations and neural tube defects may derive from a unique dominant autosomal gene with variable expressivity.

In utero transplantation of stem cells in humans: immunological aspects and clinical follow-up of patients.

Four human fetuses were treated by transplantation of human fetal liver stem cells. Two of them had severe immunodeficiency disease and the two other ones had thalassemia major. Three of these in utero transplants were followed by engraftment. The three patients are now born: the first one is now very healthy thanks to the reconstitution of cell-mediated immunity associated with this transplant, and he lives normally at home; the two other ones, who have been more recently treated, have a significant improvement of their condition and they also live normally at home. This procedure, for the first time used in humans, has therefore demonstrated its feasibility and its efficacy: during early fetal development, foreign cells engraft readily and may result in cure or significant correction of a large variety of inherited diseases.

In utero transplantation of stem cells in humans: technical aspects and clinical experience during pregnancy.

Four fetal patients have received fetal liver cell transplants in utero, at the fertilization ages of 12-28 weeks. Depending on the age, intraperitoneal injection or intravenous infusion into the umbilical vein was used, under ultrasonic guidance. In three of the four cases, engraftment has been obtained and has resulted in cure or significant improvement of the inherited disease.

[Echographic guided puncture of ovarian cysts. Possibilities and limitations]. / Ponction échoguidée des kystes de l'ovaire. Possibilités et limites.

Ultrasound-guided puncture is a simple and easy to perform procedure. It would seem to be a good idea to suggest simple puncture as a first intention in cases of an image of ovarian cyst. In theory, the advantages are obvious: a puncture is performed, the liquid is analyzed and an appropriate treatment is administered. Coelio-surgery could surely be avoided in cases of functional cysts and perhaps in some non-malignant ovarian cysts. In fact, it must be remembered that a cancer of the ovary in its early stages may have the appearance of a banal cyst, and that puncture does not allow pathological examination. Cytological examination is insufficient to totally rule out malignancy or to allow detailed histological diagnosis. There is, therefore, a risk of leaving in place the pocket of a cyst which may be organic and which may recur or even develop. For these reasons, ultrasound-guided puncture can be undertaken only in pre-selected patients and in the context of a specific protocol: 1) The ultrasound image of the cyst must be liquid, anechoic, unilocular (or bilocular with a fin wall), with no vegetation, the serum level of CA 125 must be low; 2) it the puncture liquid is oily, tarry or viscous, a celioscopy must be carried out as soon as possible, only a yellow-colored liquid can justify waiting; 3) the analysis of the cyst fluid is not always determinant, and the cytology findings are conclusive only if positive. A high 17 beta-estradiol level suggests a functional cyst.(ABSTRACT TRUNCATED AT 250 WORDS)

New developments in stem cell transplantation with special reference to the first in utero transplants in humans.

Based on the experience acquired in post-natal liver transplantation since 1974, we recently initiated pre-natal, in utero stem cell transplantation from the human fetal liver. The first two fetuses that we treated had immunodeficiencies, the third one had thalassemia major. Donors and recipients were not matched. The fetal cells were infused in the umbilical vein of the first two patients and injected intraperitoneally into the third one, under ultrasonic visualization. The first patient, born in 1988, has both engraftment of donor cells and reconstitution of cell-mediated immunity. This child, who had bare lymphocyte syndrome, has no clinical manifestation of the disease and he lives normally at home. The second child, born in 1989, has not yet developed a significant reconstitution of immunity although donor cell engraftment has been proven (Y chromosome in this female patient). The third patient has also evidence of donor cell take (Y chromosome in a female patient) but the effect on thalassemia has not yet been fully analyzed (donor hemoglobin present in small quantity). In all 3 cases, no side-effect of any kind developed in the mother nor in the fetus. Several advantages appear to be associated with in utero FLT: increased probability of graft take, ideal isolation of patient (in the uterus), optimal environment for fetal cell development (in the fetal host).

[Ultrasonography during the second and third trimesters]. / L'échographie du deuxième et troisième trimestres.

This second atlas of ultrasonography, devoted to the second and third trimesters of pregnancy, gives a better idea of the normal fetal anatomy and the most frequent variations.

[Obstetrical ultrasonography during the first trimester in the primipara]. / Echographie obstétricale au cours du premier trimestre chez la primipare.

This atlas of ultrasonography provides information that may be obtained during a first trimester examination, pointing out the traps.