[Evaluation of the association of a serum marker and second trimester ultrasonography for the screening of trisomy 21 in women of less than 38 years. Prospective study of 5,163 patients]. / Evaluation de l'association marqueur sérique et échographie du deuxième trimestre pour le dépistage de la trisomie 21 chez les femmes de moins de 38 ans. Etude prospective chez 5,163 patientes.

OBJECTIVES: Use of serum markers alone for trisomy 21 screening programs leads to a high rate of amniocentesis. Adding a second parameter (ultrasonography during the second trimester) might reduce this rate yet retain satisfactory sensitivity. This work was conducted to evaluate the pertinence of associating serum hCG level between 16 and 17 weeks gestation and morphological ultrasonography between 18 ans 20 weeks gestation. METHOD: A prospective study was conducted in 5,163 pregnant women aged over 38 years. A morphological ultrasonography was performed in all patients whose hCG level > 1/150 indicated a risk. An amniocentesis was proposed if an anomaly was detected at ultrasonography. RESULTS: Serum hCG was above the risk threshold retained in 11.9% of the patients and among these patients at least one anomaly was detected at ultrasonography in 12%. An amniocentesis was performed in 1.4% of all patients. The positive predictive value of the screening test was 20%. CONCLUSION: Combining a serum marker and ultrasonography during the second trimester allows a reduction in the rate of amniocentesis compared with screening with serum markers alone. Sensitivity for detecting trisomy 21 remains satisfactory.

A male fetus with aqueductal stenosis and four accessory spleens. A case report with a tentative genetic explanation.

A male fetus presenting with prenatal hydrocephalus is reported. The fetus died during labor. Pathological examination disclosed four accessory spleens without any abnormalities of the situs. Hydrocephalus was secondary to aqueductal stenosis. Histological features of the aqueduct were consistent with a developmental defect. The association of such malformations has already been reported and could be explained by common regulatory mechanisms which control the splenic and neural tube development.

How many embryos should be transferred in in vitro fertilization? A prospective randomized study.

OBJECTIVE: To maintain the rate of pregnancy, while suppressing high rank multiple pregnancies by limiting the number of fresh embryos transferred after IVF, in a population selected for potential success. DESIGN: A prospective, randomized study. SETTING: Département de Gynécologie Obstétrique, Centre Hospitalo Universitaire, Paris VI, France. PATIENTS: There were two groups of 28 couples. Women were < or = 35 years of age, with > or = 70% cleavage rate and at least four morphologically regular embryos. INTERVENTION: On the day of ET, either four fresh embryos were transferred (group 1) or two fresh embryos were transferred and two were frozen for later transfer (group 2). MAIN OUTCOME: Pregnancy rate and multiple pregnancy. RESULTS: The pregnancy rate was the same in the two groups with one-third of the high rank pregnancies in group 1 and no pregnancies in group 2. CONCLUSION: Only two fresh embryos need to be transferred in this selected population.

Protein composition of follicular fluid and oocyte cleavage occurrence in in vitro fertilization (IVF).

The present study was carried out from in vitro fertilization (IVF) attempts to analyze further the total and specific protein contents of 47 follicular fluids yielding one oocyte. The aim was to find correlations between the follicular concentrations of such proteins and the occurrence of coupled oocyte cleavage. These findings would be used as markers of IVF outcome. Two groups of follicular samples were distinguished: one group with cleavage occurrence (25 cases) and another group without cleavage or even fertilization (22 cases). In the group with cleavage a significantly higher level was observed for six proteins: C3 complement fraction and ceruleoplasmin (P less than 0.02), alpha-antitrypsin and transferrin (P less than 0.01), and alpha 2-macroglobulin and beta 2-microglobulin (P less than 0.001). The data are discussed with respect to changes in follicle permeability with advancing maturity.

[Celioscopy with peridural anesthesia. Techniques, indications, results in 220 cases]. / La coelioscopie sous anesthésie péridurale. Techniques, indications, résultats à propos de 220 cas.

The authors used epidural anaesthesia to carry out laparoscopy in 220 patients. The chief indications for the laparoscopies were GIFT (intratubal transfer of gametes) and tubal sterilization. The technique used was slightly different according to the indications for the use but they had to be sure of anaesthetising up to T4. In 90% of cases the patients tolerated the procedure well. No change in ventilation or in metabolic measurements. As far as fertilization was concerned studies carried out in various parameters failed to show any untoward side effects due to the use of local anaesthetics. Finally so long as the anaesthesia is only used for a short length of time this technique seems to be suitable for day cases.

Assisted reproductive technology and superfetation: a case report.

This observation reports a case of human superfetation. Fertilizable oocytes and embryos were obtained after ovarian stimulation in a women already several weeks pregnant. Spontaneous monofetal pregnancy had normal development and the embryos obtained after in vitro fertilization were actually frozen.

[In vitro fertilization. Analysis of results after the first 2 years' activity]. / Fécondation in vitro. Analyse des résultats sur les deux premières années d'activité.

413 menstrual cycles were monitored in the first two years of the work of the In-Vitro Fertilization Unit in La Pitié-Salpêtrière. On-going pregnancies were achieved from the very first months of activity, with a level which stayed relatively constant in the first year. Technical changes were introduced and in particular a higher recovery rate of oocytes when ultrasound was used and above all when LH-RH analogues were used in the process of stimulation. It is this last point that seems to be the most interesting. In fact, when the results are examined there is a definite rise in the number of on-going pregnancies of which the level went up by 2.3 times as compared with using a classical protocol of Clomithene citrate and HMG. In the 153 cycles when D-Trp6 LH-RH was used, the percentage of on-going pregnancies was 13.7% for each cycle and 20% for embryo implants. Furthermore, it became possible to work out the dates for the patients and this appears to us essential as the numbers of couples attending increase.

Mitotic and meiotic analysis of a reciprocal translocation t(Y;3) in an azoospermic male.

A balanced reciprocal translocation t(Y;3)(q11.2q12) is detected in an azoospermic male, with a normal phenotype. Replication study shows no modification of the replication pattern of the bands of the rearranged chromosomes. Meiotic studies show a chain element at diakinesis. At the pachytene stage, the Y-body is in external contact with the sex vesicle. It is concluded that the integrity of the Y-chromosome is probably necessary for a normal meiotic process, and is more important than dosage effect due to complete or partial disomy of this chromosome.

[Partial deletion of the short arm of chromosome 3. Report of a case (author's transl)]. / Délétion partielle du bras court du chromosome 3. A propos d'un cas.

A patient with partial deletion 3p is reported. Only one other patient has been previously reported in the literature. Features the two share include microcephaly, failure to thrive, ptosis, symophrys, a broad and flat nose, a prominent maxilla, an over developed chin, and an increased number of loops on the finger tips. These observations are compared in type and countertype with known observations of trisomy 3p and of 3q duplication/3p deletion.