Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.

A case of recurrent hydrops fetalis, diagnosed on second trimester's ultrasonography, has led to the diagnosis of sialic acid storage disease. No classic etiology was found after the first accident. The recurrence in subsequent pregnancy raised the possibility of a storage disease that was confirmed by amniocentesis. The diagnosis of Salla's disease was based on high levels of free sialic acid in amniotic fluid and fetal cells culture and by specific histologic features on fetopathologic examination. Diagnosis of inherited diseases is important because it implies a high risk of recurrence which makes mandatory genetic counseling and prenatal care in subsequent pregnancies.

[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.

[In utero study of the eye of normal fetuses. Static ultrasonographic aspects and clinical implications]. / Etude in utero de l'oeil du foetus normal. Aspects échographiques statiques et implications cliniques.

PURPOSE OF THE STUDY: Some ocular diseases are detected by amniotic fluid analysis. However, some serious eye malformations are only detected at birth. By analogy to other organs, we were concerned by fetal sonography studying in utero ocular structures. METHODS: We performed 150 fetal sonograph with 2 abdominal probes and one vaginal probe. We defined: (a) Axes where ocular structures are best visualised, (b) sonographic images of these structures, (c) the date at which these structures are detected. RESULTS: Orbit are detected between 11th and 12th week amenorrhae. Lens are detected between 12th and 14th week. Hyaloid artery appears around the 18th and disappears around the 32nd. Lids were recognised at 16th week. These results were confirmed by similar studies. Pathologic cases described in the literature are discussed. CONCLUSION: Fetal sonography must include a precise study of the eye. However, the eye is a small organ, so its study implicates technically skilled and an experienced practitioner. Fetal sonography gives precise information about normal eye development and allows the detection of structural anomalies (anophthalmos, microphthalmos, cyclopia) or orbital prenatal malformations (hyaloid artery persistance).

[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.

[Triploidy and mole. Apropos of 2 cases continuing to the second trimester]. / Triploïdie et môle. A propos de deux cas évolutifs du deuxième trimestre.

Triploidy in a common chromosomal abnormality that gives rise to early abortion in most cases. Rarely triploidies carry on past the end of the first trimester. When they do they are always accompanied by severe intra-uterine growth retardation with occasionally molar changes in the placenta. These changes are different from hydatidiform moles but they can become malignant. The formal diagnosis of triploidy depends on the fetal caryotype.