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E Vuillard

Publications and source records attributed to E Vuillard.

At least 19 recordsLinked to original sources
PubMed2006

[Specific follow-up for pregnant patients with a thyroid dysfunction].

Association between thyroidian disease and pregnancy is a frequent event. Thyroidian hormones are mandatory for foetal development especially at the level of brain structures. Any shortage of thyroidian hormone can severely and irreversibly alter neurological development. On the other hand it is also clear that an excess of thyroidian hormone can jeopardize the embryo then the foetus. In case of maternal hyperthyroidism, strict guidelines relying mainly on foetal thyroid monitoring echographic scanning will allow in most cases the delivery of a healthy euthyroid newborn. Hypothyroidia, providing an adequate substitution, has no significant impact on pregnancy. Biological monitoring is the key of monitoring. Iodine deficiency is a matter of concern when considering neurodevelopmental outcome, however it is still an unsolved issue in France. A multidisciplinary team will sometimes be necessary for taking care of pregnant patients with active Graves' disease.

Adult↗
PubMed2006

Third-trimester fetal MRI in isolated 10- to 12-mm ventriculomegaly: is it worth it?

OBJECTIVE: The justification for magnetic resonance imaging (MRI) in isolated mild ventriculomegaly remains controversial. This study was undertaken to evaluate the contribution of third-trimester MRI in isolated 10- to 12-mm fetal ventriculomegaly. DESIGN: Observational prospective cohort study. SETTING: Universitary prenatal reference centre. POPULATION: From February 2000 to May 2005, we prospectively collected data concerning fetuses referred to us for cerebral MRI following detection of ventriculomegaly by ultrasound scan (n= 310). METHODS: Among these, we identified and analysed those cases in which ventriculomegaly was isolated and did not exceed 12 mm in ultrasound examinations prior to MRI scan (n= 185). MAIN OUTCOME MEASURE: Cases in which MRI provided additional information that was likely to have an impact on prenatal management were detailed. RESULTS: During the study period, 310 MRI were performed because of fetal ventriculomegaly. Hundred and eighty-five were suspected to be isolated 10- to 12-mm ventriculomegalies in ultrasound scan and formed our database. MRI confirmed the 10- to 12-mm isolated fetal ventriculomegaly in 106 cases (57.3%) and found other abnormalities in 5 (4.7%) of these 106 cases. MRI found ventricular measurement to be less than 10 mm in 43 cases (23.3%) and more than 12 mm in 36 cases (19.4%). Among these 36 fetuses with ventricle size more than 12 mm, 6 (16.7%) had other abnormalities, whereas MRI did not find other abnormalities in the 43 cases with ventricle size below 10 mm. CONCLUSION: Before advantages of MRI to ultrasound examination can be demonstrated, it seems reasonable that MRI should remain an investigational tool, restricted to selected clinical situations in which the results are expected to modify case management. Where ultrasound scan suspects isolated ventriculomegaly of 10 to 12 mm, our data suggest that when the finding is confirmed with MRI this could be expected in around 5% of cases. Therefore, the policy of routine MRI in such cases should depend on prenatal centres' priorities.

Brain Edema↗
PubMed2006

Prenatal Marfan syndrome: report of one case and review of the literature.

OBJECTIVES: Our objective was to describe the features of prenatal Marfan syndrome. METHODS: Doppler fetal echocardiograms were performed. The morphology and rhythm of the fetal heart were examined sequentially. RESULTS: The case was referred because of cardiomegaly and dilated great vessels. Sequential Doppler echocardiographic evaluation led to the diagnosis of prenatal Marfan syndrome. The main features are cardiomegaly, dysplastic atrioventricular valves with tricuspid regurgitation and dilated great vessels, which can be aneurysmal at their origin. The fetus died in utero at 39 weeks of gestation because of cardiac failure. Pathological study confirmed the Marfan habitus and complications. Molecular genetic study showed a de novo point mutation in exon 26 of the FBN1 gene. CONCLUSION: We report a case of prenatal Marfan syndrome diagnosed by sequential evaluation of the cardiac signs, which are essential for prenatal diagnosis. The prognosis seems as poor as the neonatal one. The prenatal diagnosis is essential for adequate counselling.

Adult↗
PubMed2006

Contribution of fetal magnetic resonance imaging and amniotic fluid digestive enzyme assays to the evaluation of gastrointestinal tract abnormalities.

OBJECTIVE: To analyze the contribution of fetal magnetic resonance imaging (MRI) and amniotic fluid digestive enzyme (AFDE) assays to the evaluation of gastrointestinal tract abnormalities. METHODS: This was a prospective study involving 24 fetuses suspected of having gastrointestinal tract abnormalities on ultrasound examination. MRI was used to analyze the location of the obstruction, the visibility of the small bowel not involved in the obstruction, and the visibility and size of the colon and rectum. Abnormalities were further evaluated by AFDE assays. The final diagnosis was based on postnatal or fetopathological examination. RESULTS: In duodenojejunal obstructions, MRI (6/6) and AFDE assays (4/4) correctly identified the level of obstruction, but were less accurate for small bowel obstructions (MRI, 10/11; AFDE assays, 7/11). The small bowel not involved in the obstruction was correctly evaluated by MRI as being viable in six cases and as abnormal in eight cases (multiple obstructions or necrosis). However, it was thought antenatally to be abnormal by MRI in four cases in which it was found to be normal on postnatal findings. Three cases in which the colon was found to have abnormal echogenicity were considered normal both by MRI and AFDE assay, in agreement with postnatal findings. Two cases of microcolon-megacystis-intestinal hypoperistalsis syndrome (MMIHS) were diagnosed both by MRI and AFDE assay. Of the three anorectal malformations, two were overlooked by ultrasonography and one by MRI. MRI also overlooked 2/3 associated rectourethral fistulas. CONCLUSION: MRI and enzyme analysis are good complementary tools to ultrasonography for identifying the level of gastrointestinal obstruction and diagnosing MMIHS. MRI can assess the normality of the intestinal tract not involved in the obstruction, but not multiple obstructions, necrosis and small urodigestive fistulas.

Amniotic Fluid↗
PubMed2006

Prenatal isolated mild ventriculomegaly: outcome in 167 cases.

OBJECTIVE: To define the contribution of prenatal investigation and evaluate the prognosis of isolated mild ventriculomegaly (IMV). DESIGN: Retrospective study. SETTING: University hospital between January 1992 and December 2002. POPULATION: One hundred and sixty-seven cases of prenatal unilateral or bilateral IMV without any associated anomaly at the time of initial diagnosis. METHODS: Complementary investigations were performed: amniocentesis with karyotyping, screening for viruses and acetylcholinesterase electrophoresis, magnetic resonance imaging (MRI), and ultrasonography every 3-4 weeks. MAIN OUTCOME MEASURES: Results of prenatal investigations, pregnancy outcome, and postnatal psychomotor development. RESULTS: IMV was diagnosed around 26.5 weeks. Amniocentesis revealed four chromosomal anomalies and two cytomegalovirus infections. MRI diagnosed brain-associated anomalies in 15 cases and ultrasonographic monitoring highlighted malformations not initially diagnosed in 28 cases. Termination of pregnancy (TOP) was considered in 21 pregnancies (12.6%). Indications were aneuploidy, fetal infectious disease or associated malformations. In women for whom a TOP was considered, consanguinity, fetus of female sex and frontal horn enlargement were statistically more frequent, ventriculomegaly was more often bilateral and asymmetrical, atrial width, and the rate of progressive ventricular enlargement were significantly higher. One hundred and one children with prenatal IMV were assessed between 19 and 127 months (mean age 54.68 +/- 2.87 months). Twelve children had neurological disease or psychomotor delay and 89 children had a normal psychomotor development. Poor neurological outcome was more often associated with atrial width greater than or equal to 12 mm, asymmetrical bilateral enlargement, and progression of the ventriculomegaly. CONCLUSION: The detection of IMV raises the question of the child's psychomotor development and justifies meticulous prenatal investigation. In addition to associated anomalies, three criteria are often associated with an unfavourable outcome: atrial width greater than 12 mm, progression of the enlargement, and asymmetrical and bilateral ventriculomegaly.

Adult↗
PubMed2005

[Long-term follow-up of children with increased nuchal translucency and normal karyotype].

The aim of this study was to investigate outcome at the age of two years for infants without known chromosomal anomalies who presented increased nuchal translucency (NT) at first trimester ultrasound examinations. One hundred fifty-one infants with NT measuring 3mm or more, between 12 and 16 weeks gestation, were followed for at least 24 months. A homogeneous pediatric examination was applied. Among these 151 infants, thirteen (8%) had a major isolated malformation. Five infants (3.3%) had chromosomal anomalies which were unrecognized on fetal karyotype owing to tissue mosaic in two and to cryptic chromosomal anomalies in three. At the age of two years, 16 children (10%) presented psychomotor retardation as part of a genetic syndrome, half of them had an associated cardiac malformation. We did not find any specific ultrasound characteristics which could be used to distinguish fetuses with impaired neurological prognosis. Newborns who presented NT at the first trimester ultrasound examination constitute a high risk population, particularly for psychomotor retardation which is not always recognized during the neonatal period. Careful pediatric follow up is required during childhood.

Child, Preschool↗
PubMed2005

[Ductus venosus agenesis].

OBJECTIVE: Congenital absence of the ductus venosus is a rare anomaly in the fetus. The aim of our study was to evaluate the clinical and ultrasonographic features and outcome of the fetuses with ductus venosus agenesis. STUDY DESIGN: We describe 12 cases in the period between 1992 and 2004. The umbilical vein drained either into the right atrium directly (2 cases) or by the coronary sinus (1 case), or in the inferior vena cava (5 cases), or in the azygos vein (1 case), or in the portal vein (3 cases). Our data where analyzed with the cases published in the literature. Two groups of anastomoses where defined on the basis of the hemodynamic consequences: the group of extrahepatic anastomoses (53 cases) and the group of intrahepatic anastomoses (22 cases). RESULTS: In the group of extra hepatic anastomoses, cardiomegaly was the most common antenatal finding (39%), while in the intra hepatic group hydrops fetalis occurred most frequently (23%). Malformation rate was high in both groups (56% and 45%) and chromosomal anomalies where present in 9% of cases. CONCLUSION: Careful assessment of the umbilical venous return and the ductus venosus should be a part of examination of every fetus with cardiomegaly, polyhydramnios, ascites or hydrops. In case of absence of the ductus venosus a referral scan, a fetal echocardiography and a karyotype should be performed.

Autopsy↗
PubMed2004

Prenatal rupture of a left ventricular diverticulum: a case report and review of the literature.

Congenital left ventricular diverticulum is a rare malformation. We report a case of a ruptured congenital left ventricular diverticulum in a 24-week-old fetus. The fetus was referred for a large and circumferential pericardial effusion confirmed by cross-sectional echocardiography in our tertiary fetal cardiology unit. Pericardiocentesis removed 25 mL of old hematic fluid. The fetus died 5 days later. The pathological examination showed a ruptured submitral fibrous diverticulum of the posterior wall of the left ventricle. There is no previous report in the literature of prenatal rupture of a cardiac diverticulum. The submitral location and the fibrous wall of the diverticulum is uncommon. As regards this case, we reviewed the diagnostic criteria and the outcome of 11 cases of prenatal cardiac diverticulum reported in the literature.

Adult↗
PubMed2003

Isolated pericardial effusion in the human fetus: a report of three cases.

OBJECTIVE: Our objective was to determine the possible underlying etiologies and outcome in isolated fetal pericardial effusion. METHODS: Doppler fetal echocardiography allowed the diagnosis of pericardial effusion in three patients and revealed the etiology in two. RESULTS: We present the findings in three cases of isolated pericardial effusion. In the first, the pericardial effusion was a manifestation of trisomy 21 associated with a myeloproliferative disorder. In the second, the pericardial fluid collection was the first sign of an autosomal recessive disease, idiopathic infantile arterial calcification. The third case was remarkable because of the spontaneous resolution of a large pericardial fluid collection. CONCLUSION: Isolated fetal pericardial effusion covers a wide spectrum of etiologies from severe genetic and chromosomal diseases to transient forms.

Adult↗
PubMed2003

Prenatal management of gastroschisis: the place of the amnioexchange procedure.

Gastroschisis is a malformation of the anterior abdominal wall that consists of a right paraumbilical defect with bowel loops bathed in the amniotic fluid. The survival rate is now greater than 90% and the prognosis relies mainly on morbidity attributable to bowel dysfunction. Recent research has examined gastrointestinal waste present in amniotic fluid that induces bowel toxicity and an inflammatory process. The amnioexchange procedure (changing the amniotic fluid regularly) involves a new therapeutic approach: reducing bowel injuries in the fetuses. This article shows that there is an inflammatory reaction in human gastroschisis and in the authors' model, and that the clinical and biological data plead for the practice of amnioexchange in human beings. A randomized, controlled study is now needed.

Amniotic Fluid↗
PubMed2002

[Isolated antenatal pyelic dilatation: postnatal follow-up and care for vesico-ureteral reflux].

OBJECTIVE: To assess the risk of aneuploidia in case of isolated antenatal pyelic dilatation and to detail urological care for these children. METHODS: Prenatal and postnatal follow-up was analyzed in 350 cases. RESULTS: The overall rate of chromosome anomalies was 1.3%. Trisomy 21 was found alone in one case (0.3%). The sex ratio was 26% girls and 74% boys. Vesico-ureteral reflux was similar in both sexes (13%). CONCLUSION: The question of proposing karyotyping in case of isolated pyelic dilatation remains unsolved because minimal subjective signs such as slightly excessive amniotic fluid can completely change the assessment of the risk of aneuploidia. The frequency of postnatal vesico-ureteral reflux associated with prenatal pyelic dilatation warrants complete prenatal ultrasound screening.

Adult↗
PubMed2001

Improvement of mesenteric superior artery Doppler velocimetry by amnio-infusion in fetal gastroschisis.

This study aimed to analyse the influence of amnio-infusion on superior mesenteric Doppler velocimetry and to correlate Doppler data with outcome in fetuses presenting with gastroschisis. Umbilical and intra- and extra-abdominal superior mesenteric artery Doppler velocimetry was measured prospectively before and after amnio-infusion in fetuses with gastroschisis. Doppler index values and changes were correlated with the following outcome parameters: importance of fibrous coating, duration of hospitalization in the neonatal intensive care unit, total duration of hospitalization, duration of parenteral feeding, duration of ventilatory assistance, and the interval to initiation of oral feeding. A significant improvement of diastolic flow was observed in the extra-abdominal superior mesenteric artery with amnio-infusion. No similar change was seen in the intra-abdominal superior mesenteric or in the umbilical artery. Pre-amnioinfusion extra-abdominal mesenteric Doppler index was correlated with maximal diameter of exteriorized bowel and slightly with duration of hospitalization in the neonatal intensive care unit, but no other relation between Doppler index and outcome parameter could be ascertained. Amnio-infusion induces modifications in the vascularization of exteriorized bowel in gastroschisis. This could partly explain the beneficial effect of this procedure on fetal gut.

Amniotic Fluid↗
PubMed2001

Pathologic and laboratory correlation in microcephaly associated with prenatal cocaine exposure.

The Authors report a case where cocaine abuse during pregnancy assessed by drug analysis at various site was associated with foetal microcephaly. Foetal pathologic findings revealed anomalies in neuronal migration and in the vascular architecture in the brain. Such anomalies might be the result of prolonged exposure to cocaine in utero, aggravated by the high concentration of cocaine metabolites in the amniotic fluid over a prolonged period.

Abnormalities, Drug-Induced↗
PubMed2001

Biochemical investigation of foetal and neonatal thyroid function using the ACS-180SE analyser: clinical application.

Despite sonographic detection of foetal goitre, uncertainty persists in the initial diagnosis of thyrotoxicosis and hypothyroidism. The aim of this study was to establish foetal and neonatal iodothyronine and thyrotrophin reference values for the ACS-180SE analyser. From 22 to 36 weeks of gestation, median foetal serum free thyroxine (FT4) levels increased from 6.0 pmol/L to 143 pmol/L, while free tri-iodothyronine (FT3) levels increased from 0.7 pmol/L to 1.9 pmol/L and mean thyrotrophin (TSH) levels remained stable (10.2 +/- 3.8mU/L; n = 33). At birth, concentrations were independent of gender and gestational age. Among the 10 cases of sonographically detected foetal goitre, serum TSH and FT4 were measured in five, showing hypothyroidism (3/5) or hyperthyroidism (2/5). Cord blood TSH levels reflected the efficacy of prenatal therapy. Measurement of foetal FT4 and TSH can be used to confirm foetal thyroid dysfunction, whereas treatment efficacy can be assessed sonographically and confirmed by measurement of TSH assay at birth.

Female↗
PubMed2001

[Pregnancy outcome and infant follow-up after diagnosis of nuchal anomalies at the 1st or 2nd trimester ultrasound examination].

OBJECTIVES: The aim of this study was to determine pregnancy outcome and investigate infant follow-up after diagnosis of nuchal anomalies at the first or second trimester ultrasound examination in order to identify prognosis factors and improve prenatal counseling. PATIENTS AND METHODS: Between January 1994 and June 2000, double skin fold 3mm or cystic hygroma at the first trimester ultrasound, or thicken nuchal anomaly at second trimester ultrasound explorations were diagnosed at the Robert Debré maternity ward. RESULTS: One hundred fifty-nine pregnancies were terminated and 131 infants were delivered and followed with four pediatric examinations during the first two years of life. Among the 131 newborns, 104 (79%) progressed normally, 16 had a major malformation (heart, kidney, skeletal; 9 (6.8%) with a unique anomaly and 7 (5.3%) with malformation syndromes), and 14 (10.6%) presented nonspecific retardation of psychomotor development either alone (7 cases) or associated with an identified genetic syndrome (7 cases). DISCUSSION: Neonates who presented a nuchal anomaly during pregnancy are a high-risk population, particularly for retardation of psychomotor development which is not always diagnosed during the neonatal period. Careful postnatal follow-up is required to identify developmental disorders undiagnosed at birth. CONCLUSION: This series is the largest reported in the literature in terms of number of infants and also for postnatal pediatric follow-up and homogeneous pedratrician follow-up.

Abnormalities, Multiple↗
PubMed2000

Management of fetal thyroid goitres: a report of 11 cases in a single perinatal unit.

Fetal thyroid goitres may reveal hormonal imbalance. This can jeopardize neurological development and fetal outcome even when early postnatal treatment is provided. We report a series of 11 goitres diagnosed antenatally in women with past or present thyroid disorders or discovered fortuitously on ultrasound scan. Fetuses presented with hyperthyroidism in three cases and hypothyroidism in eight. Hypothyroidism was iatrogenic in five cases, due to maternal anti-thyroid drugs. Hyperthyroidism was induced by transplacental transfer of thyroid stimulating antibodies (TSHrab). Accurate diagnosis of fetal thyroid status was obtained by fetal blood sampling but this invasive method was deemed necessary only in four cases as maternal clinical and biological data and ultrasound signs provided sufficient information to infer the type of thyroid disorder in the remaining patients. Fetal therapy relied on reduction of maternal antithyroid medication and, in selected cases, intra-amniotic injection of levothyroxin in hypothyroidism, and on administration of antithyroid drugs in hyperthyroidism. All newborns were healthy and none displayed consequences of severe thyroid imbalance. No caesarean section was performed for dystocia. Fetal thyroid goitres can be managed successfully with selected use of invasive diagnostic and therapeutic techniques.

Female↗