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Biomedical subjects

E Vuillard

Publications and source records attributed to E Vuillard.

At least 37 records · Page 2Linked to original sources

Situs inversus and bowel malrotation: contribution of prenatal diagnosis and laparoscopy.

The authors report 3 different cases of prenatal diagnosis of situs inversus associated with bowel malrotation. Heterotaxy existed in 2 cardiosplenic syndromes (1 left and 1 right isomerism), and 1 isolated situs inversus. Bowel malrotation was detected at birth by ultrasonography and intestinal contrast study. Patients underwent laparoscopic LADD's procedure and abdominal exploration in the neonatal period. The authors advocate neonatal screening and early surgical management of bowel malrotation in prenatally diagnosed heterotaxic syndromes.

Adult↗

How accurate is the prenatal diagnosis of abnormal genitalia?

PURPOSE: The prenatal diagnosis of abnormal genitalia may have a major impact on prenatal counseling and postnatal outcome. We studied the accuracy and clinical implications of the prenatal diagnosis of abnormal genitalia. MATERIALS AND METHODS: Between 1991 and 1999 the prenatal and/or postnatal diagnosis of abnormal genitalia in 53 cases was made at our institution. All cases were prenatally assessed at our Obstetrics and Fetal Medicine Department. Outcome was confirmed postnatally or by a fetopathologist in the case of pregnancy termination. RESULTS: A genital anomaly was prenatally diagnosed in 43 cases and was accurate in 34, while in 9 cases anomalies were absent at birth. In 10 cases ambiguous genitalia were not detected prenatally. The primary anomalies suspected were male pseudohermaphroditism in 19 cases and female pseudohermaphroditism in 12, including 2 cases of congenital adrenal hyperplasia. Male pseudohermaphroditism was detected prenatally in 17 cases and diagnosis was confirmed at birth. Female pseudohermaphroditism was detected prenatally in 12 cases and only 5 were confirmed and the anomaly was discovered at birth in 6. The prognosis was highly altered when many malformations or aneuploidy was associated with ambiguous genitalia. Of the 15 patients with many malformations only 3 survived, and pregnancy was terminated in 3 of 4 cases of aneuploidy. CONCLUSIONS: When pseudohermaphroditism was detected in a male fetus by an experienced ultrasonographer at a tertiary center the prenatal diagnosis was accurate in 100% of cases. The prenatal diagnosis was less accurate (46% correct) in a female fetus.

Disorders of Sex Development↗

[Clinical spectrum of prenatal tetralogy of Fallot].

The aim of this study of 44 cases of tetralogy of Fallot was to assess the echocardiographic aspects and the prognosis with respect to associated abnormalities and the potential evolution in utero. Group I, tetralogy of Fallot with other abnormalities (N = 27: 2 valvular agenesis, 26.5 5.3 weeks), had genetic anomalies in 18 of the foetus (10 trisomies including 5 trisomy 21, 5 structural abnormalities including 2 micro-deletions 22q11 in the two cases of valvular agenesis, and one deletion of chromosome 8p23.1, 3 mendelian syndromes) and other abnormalities in 9 cases. Hypoplasia of the pulmonary artery was present in 60% of cases with a non-dilated aorta in 72%, infundibular hypertrophy in 33% and 2 evolutions to pulmonary atresia. Aspect of "isolated" ventricular septal defect were observed in 20% of cases. Survival was 10%. In Group II, tetralogy of Fallot was isolated (N = 17, including 2 pulmonary valve agenesis, 31 +/- 6 weeks) (p < 0.01 versus Group I). Pulmonary artery hypoplasia was observed in 50% of cases with dilatation of the aorta and infundibular hypertrophy in all and in one a postnatal progression towards pulmonary atresia. A correlation between growth of the pulmonary artery and gestational age was found in 5 foetus out of 9 studied sequentially (p between 0.03 and 0.007) and between age at first surgery and size of the pulmonary artery (r = 0.80, p = 0.001). Survival was 84%. The risk of malformation (61%) and the prenatal potential evolution of this disease justifies continuous follow-up of all cases of tetralogy of Fallot, high resolution karyotyping and postnatal evaluation in a specialized centre.

Abnormalities, Multiple↗

Outcome of posterior urethral valves: to what extent is it improved by prenatal diagnosis?

PURPOSE: To assess the impact of prenatal diagnosis and evaluation on the outcome of posterior urethral valves we studied all cases of valves detected prenatally, including cases of pregnancy termination due to posterior urethral valves. MATERIALS AND METHODS: Between 1989 and 1996, 30 neonates with prenatally detected posterior urethral valves were treated at our hospital. The prenatal parameters analyzed were age of gestation at diagnosis, ultrasonographic appearance of renal parenchyma and amniotic fluid volume. Fetal urine was analyzed in 9 cases. We reviewed the outcome of 10 neonates treated for posterior urethral valves which were not diagnosed prenatally during the same period. RESULTS: Of the 30 neonatal survivors 6 (20%) had renal failure, including end stage renal disease in 2, after a mean followup of 4 years. Renal failure developed in 2 of 5 cases detected before 24 weeks of gestation, in 1 of 6 with oligohydramnios and in 2 of 5 with abnormal parenchymal renal ultrasound. Normal parenchymal ultrasound and amniotic volume could not predict for good outcome. Renal failure developed in 2 of 7 cases predicted by fetal urinalysis as good prognosis and in 1 of 2 cases predicted as poor prognosis. Pregnancy was terminated for posterior urethral valves in 5 cases based on prenatal criteria of severe renal impairment. Considering these cases as poor outcome, the rate of poor prognosis increased from 20 to 31%. Among the 10 neonates without a prenatal diagnosis of posterior urethral valves renal failure developed in 2 (20%), including end stage renal disease in 1. CONCLUSIONS: When negative parameters were absent and/or fetal urine predicted good outcome there were no cases of end stage renal disease in early infancy, which was a significant help in parent counseling. The predictive value of the currently available prenatal parameters needs to be updated with larger series specifically dealing with posterior urethral valves. According to the current data, the outcome of posterior urethral valves is not yet significantly improved by prenatal diagnosis.

Female↗

Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

BACKGROUND: The potential of hyperechogenic fetal bowel to act as a hallmark for prenatal cystic fibrosis screening in the general population is controversial. METHODS: Our goal was to evaluate the incidence of cystic fibrosis in 209 fetuses with hyperechogenic bowel diagnosed at routine ultrasonography and with no family history of cystic fibrosis. The diagnosis of cystic fibrosis was based on prenatal screening for the eight mutations most frequently observed in France (deltaF508, deltaI507, 1717-1G-->A, G542X, G551D, R553X, W1282X, N1303K) and at postnatal follow up. RESULTS: The overall incidence of cystic fibrosis was 7/209 (3.3%) which is 84 times the estimated risk of CF in the general population (112500). Of these seven cases, six were diagnosed prenatally based on DNA analysis (deltaF508/deltaF508, n=5; deltaF508/G542X, n=1). One case in which only one mutation had been recognised was diagnosed clinically after birth (deltaF508/unidentified mutation). Of the seven cases, none was diagnosed at 16-19 weeks, four at 16-24 weeks, and three after this. The incidence of heterozygous fetuses (15/209, 7%) was not significantly higher than the 5% expected in the general population. The mutations involved in these heterozygous cases were deltaF508 (n=13), G542X (n=1), and G551D (n=1). CONCLUSIONS: Screening for cystic fibrosis should be offered to families in which fetal hyperechogenic bowel is diagnosed at routine ultrasonography. This underlines the need to review genetic counselling in this situation where the fetus is the index case for a genetic disease.

Cystic Fibrosis↗

[Prenatal MRI of corpus callosum agenesis. Study of 20 cases with neuropathological correlations].

Twenty prenatal MR studies of corpus callosum agenesis were retrospectively studied and compared with neuropathologic examinations (18) or postnatal imaging (2). Corpus callosum agenesis were either complete (14) or partial (6). Positive diagnosis was made in 19 cases/20. The diagnosis of "isolated" or "associated" corpus callosum agenesis was assessed in 11 cases/15. MR depicted 15 of the 33 associated neurologic abnormalities. Prenatal MR is a valuable complementary technique for the diagnosis of corpus callosum agenesis when sonography is doubtful. MR could improve prognosis evaluation, since it enables depiction of associated abnormalities, notably gyral abnormalities, posterior fossa malformations, and intra-cranial cysts. MR images prove to be useful before neuropathologic examinations.

Agenesis of Corpus Callosum↗

Highly differentiated teratoma and fetus-in-fetu: a single pathology?

A case of sacrococcygeal teratoma is presented with characteristics of fetus-in-fetu. This pseudo-fetus presented a rudimentary single cavity heart, which beat at a different rate to that of the affected infant. X-ray examination showed no spinal column. This case confirms that fetus in fetu can be a remarkably complex, well-differentiated, highly organized teratoma.

Amnion↗

Congenital diaphragmatic hernia: antenatal prognostic factors. Does cardiac ventricular disproportion in utero predict outcome and pulmonary hypoplasia?

UNLABELLED: Despite regular progress in neonatal intensive care, congenital diaphragmatic hernia (CDH) diagnosed antenatally is still associated with up to 80% mortality. It is impossible to predict which fetus with CDH will survive or not. OBJECTIVE: To identify reliable antenatal predictors of outcome and of pulmonary hypoplasia (PH) in fetuses with CDH. DESIGN: Retrospective study. SETTING: Paediatric intensive care unit of a university children's hospital. PATIENTS AND METHODS: Antenatal parameters and presence of left ventricular hypoplasia in utero were compared retrospectively to outcome and to presence of PH in 32 consecutive newborn infants with antenatally diagnosed CDH. Antenatal parameters included: gestational age at diagnosis, herniated organs, associated malformations and presence of polyhydramnios. Size of the cardiac ventricles, the aorta (Ao) and the pulmonary artery (PA) were obtained by fetal echocardiography, from which we calculated a cardioventricular index (left ventricle/right ventricle, LV/RV) and a cardiovascular index (Ao/PA). Delivery was planned in order to provide ventilatory and hemodynamic management. In case of death, PH was assessed according to the following criteria: the lung weight/body weight index and the radial alveolar count. For statistical comparisons, patients were separated into two groups: the hypoplasia group (H) and the non-hypoplasia group (NH). RESULTS: Thirty-two pregnancies were delivered. Twenty-six newborns died (81%), 6 survived (19%). When comparing non-survivors to survivors, predictors of poor outcome were: mean gestational age at diagnosis (23 vs 28 weeks, p = 0.002), intrathoracic stomach (20 vs 1 s, p = 0.01) and associated malformations (6 vs 0). Cardiac ventricular disproportion, expressed by the LV/RV ratio, appeared to correlate well with a poor outcome (0.63 in non-survivors vs 0.93 in survivors, p = 0.03) and with PH (0.63 in the H group vs 0.95 in the NH group, p = 0.03). CONCLUSIONS: Our study confirmed the factors for a poor prognosis associated with CDH previously described in the literature, but none with a consistent demonstration of accuracy. LV hypoplasia may be a more accurate predictor of outcome and of PH but it has to be assessed by prospective studies with larger samples. Further basic science and Doppler-flow studies may be helpful to understand the natural history and pathophysiology of LV hypoplasia in CDH.

Abnormalities, Multiple↗

Fetal cord blood sampling in the diagnosis and the treatment of fetal hyperthyroidism in the offsprings of a euthyroid mother, producing thyroid stimulating immunoglobulins.

We described here three individual pregnancies in a euthyroid mother with a past history of Graves disease and high levels of thyrotropin receptor stimulating antibodies. Ten years prior to her first pregnancy the mother underwent a partial thyroidectomy for Graves disease and remained euthyroid since, but still produced high levels of thyrotropin receptor stimulating antibodies. Fetal and postnatal hyperthyroidism was not recognized for the first child who was referred to us at one year of age for craniostenosis. During the two next pregnancies fetal hyperthyroidism was suspected on the basis of fetal tachycardia, growth retardation, fetal goiter and fetal cord blood sampling confirmed high levels of free T3, free T4, suppressed fetal TSH levels, and high levels of fetal TRAb. The mother received propylthiouracil to control fetal hyperthyroidism. Neither baby was premature and each had a more favorable outcome than the first. Fetal cord blood sampling proved to be useful during these two pregnancies to ascertain the diagnosis of fetal hyperthyroidism and to monitor the dose of PTU administered to this euthyroid mother.

Adult↗

[Amnioinfusion: indications and results].

Amnioinfusion is a recent procedure introduced for routine obstetrical care fifteen years ago. The most widely recognized indication for amnioinfusion is in labor, to reduce fetal distress due to variable decceleration associated with oligohydramnios and probable presence of thick meconium stained amniotic fluid. During pregnancy, amnioinfusion can help in the diagnosis and morphologic evaluation in case of anamnios. The indication for amnioinfusion in the management of oligohydramnios at term before labour remains controversial. As a new procedure amnioinfusion must be managed with extreme caution.

Amnion↗

[Characteristics of pregnancies obtained by in vitro fertilization].

193 patients had 212 cycles induced for in vitro fertilisation between May 1983 and May 1984. 20 pregnancies of which 10 are still in progress were obtained with 6 spontaneous abortions. There were 2 so-called biochemical pregnancies and 3 extra-uterine pregnancies. The figure of 17% pregnancies where embryos were replaced totals less than 10% if one considers those pregnancies that really carry on. The number of extra-uterine pregnancies is disturbing. Finally, 2 multiple pregnancies continued, one of them being a quadruple pregnancy. The authors have made a special study to see the parameters of the conditions under which the pregnancies were obtained and the prognosis for such pregnancies.

Abortion, Spontaneous↗

[In vitro fertilization].

The results of 36 follicular punctures for in vitro fertilization (IVF) performed at the Maternity unit of Hôpital Tenon, Paris, between January and June 1981 are reported. To collect a pre-ovulatory ovocyte by follicular puncture through laparoscopy requires extremely accurate monitoring of ovulation to make sure that the ovocyte collected has completed its nuclear and cytoplasmic maturation in vivo. The criteria for puncture time are the beginning of LH plasma peak level in spontaneous cycles and injection of HCG in stimulated cycles. In this series the ovocyte collection rate was 60% on average. Failures were mostly due to the local status of the genital tract in the women selected for attempted IVF, since all of them had permanent tubal sterility consecutive to severe pelvic inflammatory lesions. The percentage of ovocytes found to be mature was higher in spontaneous than in stimulated cycles. Out of 13 pre-ovulatory ovocytes collected, 8 were fertilized in vitro. Four could be transferred into the uterus, resulting in two pregnancies which had to be interrupted at an early stage. IVF demands full availability of the surgical and laboratory teams concerned.

Adult↗

[Postovulatory hormones in plasma, peritoneal and follicular compartments].

Eleven women with dysovulatory or unexplained sterility were treated by induction of ovulation and compared with a control group of seven normal women. Laparoscopy was carried out 48 hours after HCG had been injected or after the LH peak in the first group. 48 hours after the rise in temperature in the second group ovulation was presumed and aestradiol 17 beta, progesterone. Delta 4 androstenedione, FSH, LH, prolactin and cyclic AMP estimated in the plasma, the peritoneal fluid and fluid from the persistent follicles. A corpus luteum of recent formation was found in group 1, 5 out of 7 times, and only 7 out of 11 times in group 2. The question of whether non-ruptured luteinised follicles exist is discussed in view of these anatomical and hormonal level findings. These show that there is a good correlation in both groups between aestradiol 17 beta and progesterone, whether estimated in the plasma or in peritoneal fluid. On the other hand, there was poor evidence of correlation between the levels of steroids in each compartment as compared with the other. Finally, the curves for the different steroid levels are important when concentrations of hormones in the follicles, the peritoneal fluid and the plasma are compared. Conclusions have been suggested about the origin of the different steroids and their movement from compartment to compartment.

Adult↗

[A comparative study of monitoring induction of ovulation using clomiphene and HMG-HCG. Hormonal and ultrasound profiles (author's transl)].

The authors have studied daily hormone monitoring (Estradiol 17B, FSH, LH, Progesterone) and ultrasound (the size of the follicles and the number of the follicles) in 17 inductions using Clomiphene and 16 using HMG and HCG in cases mainly of dysovulation, but also of anovulation, in women who had previously been treated by induction that had failed. They establish the difference in the results obtained as far as (Estradiol 17B concerned, as far as the number of follicle that were stimulated or the size of the pre-ovulatory follicle, according to whether Clomiphene or sequential HMG-HCG had been used as a method of induction. They analyse the liability of the criteria for screening by plasma levels and by ultrasound and the correlation between these two parameters.

Adult↗

Effect of amnioinfusion on the outcome of prenatally diagnosed gastroschisis.

OBJECTIVE: Following recent data showing that an inflammatory response exists in the amniotic fluid of gastroschisis-affected fetuses, we hypothesized that amniotic fluid exchange or amnioinfusion would improve the prognosis of prenatally diagnosed gastroschisis. METHODS: We compared the outcome of prenatally amnioinfused fetuses with gastroschisis to non-amnioinfused fetuses with gastroschisis. 10 patients undergoing this procedure were matched with 10 patients of our previous study. Comparisons were done on data including surgical procedure, follow-up in the NICU and the gastro-pediatric unit. RESULTS: Our results show that gastroschisis-affected fetuses undergoing amnioinfusion had a lower duration of curarization after surgery (2.2 +/- 1.9 vs. 6.8 +/- 6.9 days, p = 0.019), a shorter delay before full oral feeding (49.7 +/- 21.5 vs. 72.3 +/- 56.6 days, NS), and a shorter overall length of hospitalization (59.5 +/- 19.7 vs. 88.5 +/- 73.6 days, NS). We confirmed our previous data showing that amniotic fluid displays a chronic inflammation profile. CONCLUSION: Our data suggest that amnioinfusion could improve the outcome of gastroschisis affected fetuses. The hypothesis by which this improvement could be due to a reduction of an inflammatory response remains to be proved.

Adult↗

Prenatal diagnosis of pial-superficial arteriovenous malformation.

In the newborn, cerebral pial arteriovenous malformation has been recognized as a cause of congestive heart failure. Prenatal diagnosis allows early medical treatment of cardiac failure and increases the chance of successful neuroradiological intervention. This paper highlights the importance of careful prenatal cerebral examination in cases of cardiac ventricle enlargement.

Adult↗

In utero fetal cerebral intraparenchymal hemorrhage associated with an abnormal cerebral Doppler.

Cerebral hemorrhages are the most serious complication in preterm and hypotrophic neonates. The mechanisms underlying the formation of these hemorrhages are unclear. In utero Doppler cerebral velocimetry is not yet used as a parameter to predict this complication. Our case allowed us to analyze the evolution of cerebral Doppler abnormalities with the appearance of an intracerebral hemorrhage. The modifications in the Doppler cerebral velocimetry could not be predicted. Therefore it is necessary to determine other parameters which show the evolution of the intracerebral vasomotricity.

Adult↗