Varicella during the first 24 weeks of gestation can lead to fetal contamination and be responsible for an embryofoetopathy in a little number of cases (1 to 2%). Clinical manifestations of this fetal infection include intrauterine growth retardation, pulmonary, liver or bowel infection appearing as hyperechogenicities, limb hypoplasia, dermatomal skin scarring, damages to the eyes, such as chorioretinitis or microphtalmy, central nervous system with ventricular dilatation as well as possible damage to the autonomous nervous system. In our team, prospective fetal screening in case of maternal typical skin rash during pregnancy allows a precise diagnosis and a regular ultrasound survey of infected fetuses. Although symptoms might seem clear after birth, their visualisation during pregnancy is not always easy. We present various aspects of this embryofoetopathy and discuss the possibility of prenatal evaluation of these lesions. Prenatal ultrasound survey is a major tool to select fetuses with a high risk of post natal sequelae. In France systematic vaccination is not yet usual against VZV. Specific Immunoglobulins are difficult to obtain. The only therapeutics available are anti viral drugs such as valaciclovir. After a good evaluation of transplacental transfert and amniotic concentration, the use of valaciclovir should be evaluated as a possible treatment of infected fetuses.

Prenatal diagnosis of neuroblastoma is a rare event. Two cases diagnosed at 32 and 34 weeks are reported together with a description of the various ultrasound appearances of this tumor. Both cases had a favorable outcome and surgery was necessary in only one case. The management options are discussed in the light of the current literature. The role of ultrasound in the detection and follow-up of this tumor in the third trimester of pregnancy is discussed.

Objective: To study the complications of percutaneous umbilical blood sampling (PUBS) conducted for purely diagnostic purposes, in a retrospective study of 341 personal cases and an analysis of 4922 cases from literature. Subject: Analysis of the sampling procedure and complications seen in 341 punctures, including 12 failures. Interventions: Freehand echo-guided percutaneous umbilical blood sampling. Parameters studied: Conditions in which the blood samples were taken (gestational age, indications, placental location, technique — including number of punctures, duration); total number of fetal deaths and number of fetal deaths related to the procedure; other complications (bradycardia, hematoma of the umbilical cord, hemorrhage, premature births). Results: 20 fetal deaths (FDs) were recorded in 341 cases (5.87%) (figures for the literature: 1894922 = 3.84%); 3 FDs appeared to be directly related to the procedure (0.88) (figures for the literature: 484922 = 0.98%). There were 32 cases of bradycardia (9.38%); this complication was seen more frequently after repeated and prolonged punctures. Hematomas of the cord (1.47%) were seen when punctures were attempted in a free loop of the cord. There was a marked increase in the number of complications (8.96% FDs and 20.73% of bradycardias) when the procedure lasted more than 10 min and/or when more than 3 punctures were attempted (33.33% FDs). These two occurrences are closely related to the gestational age at which the PUBS was conducted, the placental location, the experience of the operators and the condition for which the sample was being taken. Pathological pregnancies (fetal malformation, disease or hypotrophy of the fetus, diseases of the amniotic fluid) had a mortality rate of 11.24% (19169), whereas fetuses that were presumed to be healthy had a lower risk of 0.58% (1172). Conclusions: The overall mortality (including all fetal and neonatal deaths) appears to be around 5.0% (between 3.84 and 5.87%), but the mortality rate directly related to the procedure seems to be around 1% (between 0.88 and 0.98%). It seems that the fetal mortality rate is closely related to: (a) The state of the fetus and thus to the indication of the procedure. The higher overall mortality rate observed is related to the natural history of the conditions for which the procedure was conducted and the time taken to conduct the procedure and the number of punctures. This depends on the experience of the teams, on the observation of the rule that the attempt should not be prolonged beyond 10 min and no more than 2 punctures should be attempted in any one session.

We have investigated the ultrasonographic signs that can help in the prenatal diagnosis of cystic fibrosis in 197 risk fetuses and compared them with 353 control fetuses. In 60 fetuses with a 1:4 risk for the disease, the gallbladder was also examined. All ultrasonograms were performed just before amniocentesis at 17-19 weeks of gestation. A previously described intra-abdominal hyperechogenic mass was found in 73% of the 48 affected fetuses, but 32 of the 149 unaffected fetuses also had this feature, giving a specificity of 77% and a sensitivity of 78%. When we investigated the gallbladder, we found 9 of the 12 affected fetuses to be without evidence of a gallbladder during the sonographic examination (none of the healthy or control fetuses had such a feature), giving a positive predictive value of 100%, a specificity of 100% and a sensitivity of 75%. The combined presence of an abnormal gallbladder and a hyperechogenic intra-abdominal mass yields the same positive predictive value and specificity, but does not improve the accuracy. Ultrasonography appears to be a good additional diagnostic tool for the prenatal diagnosis of cystic fibrosis, especially when the enzyme activities disagree. Furthermore, these results lead us to think that such a finding during routine ultrasonographic examination at 17-29 weeks could be a means of screening for cystic fibrosis. The absence of the gallbladder during the sonographic examination of fetuses at risk for cystic fibrosis at 17-19 weeks of gestation can help in the prenatal detection of the disease.

Having seen 87 cases we will now attempt to refine the management to be carried out when intra-abdominal hyperechogenic masses are found in the fetus. Before the 20th week of amenorrhoea (47 cases) amniocentesis can be used to study the digestive enzymes to determine the fetal karyotype. The normal results for intestinal enzymes makes it possible to rule out fetal cystic fibrosis. Three karyotype abnormalities were found in this series. After the 20th week (40 cases) intestinal enzymes cannot be interpreted. The diagnosis of cystic fibrosis then must rely on Delta F 508 mutation; but the absence of this mutation does not exclude cystic fibrosis. When ultrasound signs of intra-abdominal hyperechogenicity are found the diagnosis of cystic fibrosis should not be thought of first, because in this series the majority of fetuses who had this sign were born without any malformation. Four cases of cystic fibrosis that were confirmed have been found but equally there were other serious malformations, three chromosome abnormalities, four intestinal atresias, ten unexplained intra-uterine deaths and one case of biliary duct atresia.

Having seen 87 cases we will now attempt to refine the management to be carried out when intra-abdominal hyperechogenic masses are found in the fetus. Before the 20th week of amenorrhoea (47 cases) amniocentesis can be used to study the digestive enzymes to determine the fetal karyotype. The normal results for intestinal enzymes makes it possible to rule out fetal cystic fibrosis. Three karyotype abnormalities were found in this series. After the 20th week (40 cases) intestinal enzymes cannot be interpreted. The diagnosis of cystic fibrosis then must rely on Delta F 508 mutation; but the absence of this mutation does not exclude cystic fibrosis. When ultrasound signs of intra-abdominal hyper-echogenicity are found the diagnosis of cystic fibrosis should not be thought of first, because in this series the majority of fetuses who had this sign were born without any malformation. Four cases of cystic fibrosis that were confirmed have been found but equally there were other serious malformations, three chromosome abnormalities, four intestinal atresias, ten unexplained intra-uterine deaths and one case of biliary duct atresia.

The authors present a study based on ultrasound measurements for the growth of the fetal cerebellum from the 17th-39th week of amenorrhoea (710 measurements carried out on 293 fetuses). Regular growth of the cerebellum seems to be independent of other biometric parameters and also of the population studied. This has been demonstrated by comparing it with curves that have been made by other teams. It should give an extra feature in investigating fetal growth. Studying the cerebellum in 12 cases of severe intra-uterine growth retardation (below the third centile at birth) which were discovered and followed up in our department shows that cerebellum growth is not altered by intra-uterine growth retardation even in severe cases. Because of this it can be a reliable sign of whether the pregnancy has gone to term.

Prolapse of the umbilical cord which is still, nowadays, a very dangerous ailment for the fetus, is the type of obstetrical emergency where a quick therapeutic decision may save the child. Its current management is perfectly organized and the authors thought it would be interesting to retrace the history of ideas and techniques leading to the current concepts.

The authors give their experience of percutaneous ultrasound-guided sampling of fetal blood carried out over a period of two years. They suggest a modification of the technique, using linear screening scanning. This has made it possible to reduce the number of unsuccessful attempts at sampling. An analysis of the indications and of the results in 49 attempts at puncture shows how to select the indications better. This is particularly so when fetal abnormalities have been found on ultrasound examination. The authors think that this method, because of its reliability and the speed with which results are obtained, should be a method of choice for screening for chromosome abnormalities which might be thought to exist from the pictures obtained by ultrasound.

Prenatal diagnosis of cystic fibrosis was performed in 200 pregnancies with a 1-in-4 risk, and was based on significant modifications in amniotic fluid taken at 17, 18, 19 weeks of pregnancy, of six enzymatic assays: gamma-glutamyl-transpeptidase, aminopeptidase M, and alkaline phosphatase (total and isoenzymes). On the basis of normal values, normal outcome was predicted in 135 pregnancies reaching term, all the babies were normal. On the basis of significantly abnormal enzymatic values, an affected fetus was predicted in 56 pregnancies, 53 were terminated, and 3 went to term; the infants were affected. There were discrepancies in enzymatic values in nine cases, in eight cases normal outcome was predicted, six babies were normal and two were affected; in one case an affected baby was predicted, the pregnancy went to term and the baby is normal. Criteria giving evidence for cystic fibrosis in fetuses have been described: macroscopic observation of a typical meconium ileus, significant increase of albumin content in the meconium, and PAS-positive mucus-like material in some pancreatic acini. Using these criteria, diagnosis of cystic fibrosis has been confirmed in all the examined fetuses. The recurrence rate of cystic fibrosis was 22.5% in 147 diagnoses in which the index case had cystic fibrosis without a history of meconium ileus at birth, but was 47.5% when the index case had meconium ileus. The results of the study suggest that prenatal diagnosis of cystic fibrosis can be performed with an accuracy of 98%.

Four cases of torsion of the spermatic cord in the neonatal period were examined. In the light of the literature, the authors present the diagnostic approach and their conclusions concerning therapy. They insist on the necessity of a complete examination in the labour room and on the use of transillumination. Orchidectomy must be examined in relation to the intensity of the lesions and of the earliness of the diagnosis. The fixation of the contralateral testicle is considered necessary but must involve an efficacious technique, combined with a turning up of the tunica vaginalis.

Meconium ileus was the presenting feature of cystic fibrosis in 46 per cent of the couples which have been referred for prenatal diagnosis. In fetuses which have been aborted on the basis of alkaline phosphatase isoenzymes assays, meconium ileus represented the only pathological feature of cystic fibrosis, and was observed in three fourths of the cases. Real-time sonographic examination of fetuses at the time of amniocentesis was able to show an echogenic mass in the abdomen corresponding to the meconium ileus, and thus may afford a complementary means of diagnosis.