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Biomedical subjects

J F Oury

Publications and source records attributed to J F Oury.

At least 55 records · Page 3Linked to original sources
PubMed1998

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↗
PubMed1998

Ontogeny of leptin in human fetuses and newborns: effect of intrauterine growth retardation on serum leptin concentrations.

The aim of this study was to investigate the ontogeny of serum leptin concentrations during the second half of gestation and at birth in small for gestational age and normal fetuses and newborns. Serum leptin concentrations were measured in arterial cord blood of fetuses (n = 79) and newborns (n = 132), with or without intrauterine growth retardation, at 18-42 weeks gestation. Serum leptin was detectable in fetal cord blood in all subjects as early as 18 weeks gestation. Leptin levels dramatically increased after 34 weeks gestation. In newborns, serum leptin concentrations were positively correlated with body weight (P < 0.001) and body mass index (P < 0.001). Newborns with intrauterine growth retardation had significantly lower serum leptin values (P < 0.001) than those with normal growth, and leptin levels were only positively correlated with body mass index (P < 0.001). These results suggest that the development of adipose tissue and the accumulation of fat mass are the major determinants of fetal and neonatal serum leptin levels. In addition, a gender difference, with higher leptin concentrations in female fetuses, was observed during the last weeks of gestation and was confirmed at birth regardless of growth status, suggesting that a sexual dimorphism already exists in utero.

Adolescent↗
PubMed1998

[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↗
PubMed1997

The c-ets1 protooncogene is expressed in human trophoblast during the first trimester of pregnancy.

Expression of the c-Ets1 protooncogene which codes for a transcription factor is associated with neovascularization and invasive processes. In order to determine c-Ets1 expression at the mRNA level, during the process of implantation during the first trimester of human pregnancy, samples of trophoblast were retrieved at the time of legal abortion and processed for in situ hybridization. We found that c-Ets1 mRNAs are transcribed in the endothelial cells of villous trophoblast and in the extravillous trophoblastic cells invading the uterine vessels. However, no transcript was found in maternal endothelial cells. We conclude that c-Ets1 plays a role in angiogenesis occurring in the development of the villous tree and is involved during the invasive process of the endometrium and maternal vessels by trophoblastic cells; this latter physiological event is crucial for a normal development of the fetus, its failure leading to pathological cases. We suggest that the role of the c-Ets1 protooncogene is related to the regulation of metalloproteinase genes transcription, a gene family which is known to be a target for Ets protein.

Antigens, CD34↗
PubMed1997

Fetal fibronectin in the cervical secretion predicts accurately the onset of labor at term.

OBJECTIVE: The objective of our study was to check if presence of fetal fibronectin in the cervical secretion of full term patient predicts accurately the onset of labour at term. STUDY DESIGN: 78 women in the term period were included in the study, serial samples for fetal fibronectin were assessed, each patient underwent spontaneous labour, delay between last sample and delivery were analysed. RESULTS: Patient with positive fetal fibronectin delivered within 3 +/- 1.9 days where as patient with negative fetal fibronectin delivered within 5.7 +/- 3.9 days (P = 0.01). CONCLUSION: Presence of fetal fibronectin in cervical secretions seems to be a powerful tool to predict in a short delay the onset of labour at term, it should be used in conjunction with clinical and fetal assessment data.

Adult↗
PubMed1997

Clinical biological features of Ballantyne syndrome and the role of placental hydrops.

Ballantyne syndrome was first described in association with severe hydrops fetalis caused by rhesus isoimmunization, and lately, in association with diverse etiologies of nonimmunological severe fetal hydrops. This report is a case of typical Ballantyne syndrome in association with lethal hydrops fetalis caused by Ebstein's anomaly. It is likely that any severe fetal hydrops with massive placental hydrops may produce Ballantyne syndrome. Hemodilution could be the main biological feature, differentiating Ballantyne syndrome from usual preeclamptic syndromes. Pathophysiological hypotheses are discussed.

Adult↗
PubMed1997

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↗
PubMed1996

[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↗
PubMed1996

[Magnetic resonance imaging of the fetus. Contribution to antenatal diagnosis].

Magnetic resonance imaging (MRI) of the fetus has been developed over the last 10 to 15 years. This new imaging technique cannot remplace ultrasonography which remains the key examination for antenatal diagnosis but can add further improvements over ultrasonographic findings, particularly in evaluating the fetal brain. MRI of the fetus has thus been focused in this area, the main studies aiming at analyzing brain malformations and at searching for ischemic or hemorrhagic lesions and possible gyration anomalies. Advances in data processing software and volume acquisition and the development of the echo-planar technique and T2-weighted sequences are currently under study. MRI of the fetus has thus progressed rapidly. It is however a long costly examination which may not be well tolerated by pregnant women. Currently, routine MRI of the fetus is not possible, because of the requirement for specialized facilities. This new technique, still in the evaluation phase, should be studied using strict protocols reserved for centers specialized in antenatal diagnosis.

Female↗
PubMed1996

Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies.

In this study we have measured the concentration of 24 amino acids and total homocysteine in amniotic fluids obtained between the tenth and 32nd week of gestation from pregnancies not at risk for metabolic diseases. These results are used as reference values to which are compared values obtained from pregnancies at risk for citrullinaemia, argininosuccinic aciduria, HHH (hyperornithinaemia, hyperammonaemia and homocitrullinaemia) syndrome, cobalamin metabolism disorders (CblC or CblD), and sulphite oxidase deficiency. We discuss the helpfulness of amino acid analysis in amniotic fluid for prenatal diagnosis of aminoacidopathies.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

Congenital diaphragmatic hernia: can prenatal ultrasonography predict outcome?

OBJECTIVE: We wanted to establish whether prenatal ultrasonography predicts postnatal outcome in congenital diaphragmatic hernia. STUDY DESIGN: We designed a retrospective multicenter cohort study of 135 patients with congenital diaphragmatic hernia (122 left, 10 right, 2 bilateral, 1 anterior). In isolated left congenital diaphragmatic hernia five potential prenatal prognostic factors were studied: diagnosis at < or = 25 weeks' gestation, polyhydramnios, intrathoracic stomach, small abdomen, and major mediastinal shift. RESULTS: None of the 44 fetuses or infants who had multiple malformations survived. Of the 91 cases of isolated congenital diaphragmatic hernia, there were 82 live births; 76 of these infants had a left congenital diaphragmatic hernia. Of these, 51 (67%) died postnatally. A statistically significant relation was found between mortality and polyhydramnios, intrathoracic stomach, and major mediastinal shift. Mortality increased as a function of the number of these prognostic factors from 20% when none was present to 94% when all three were present. CONCLUSION: In the majority of cases of isolated left congenital diaphragmatic hernia the prognostic value of fetal ultrasonography is too low to alter perinatal management.

Cohort Studies↗
PubMed1996

Growth factors and intrauterine growth retardation. I. Serum growth hormone, insulin-like growth factor (IGF)-I, IGF-II, and IGF binding protein 3 levels in normally grown and growth-retarded human fetuses during the second half of gestation.

The aim of this study was to relate human fetal growth retardation to specific hormone alterations. Serum levels of GH, IGF-I, IGF-II, and IGF binding protein (BP) 3 were measured during the second half of gestation after cordocentesis in 230 fetuses who were classified into normally grown (n = 166) and growth-retarded (n = 64) groups according to ante- and neonatal measurements. The normally grown group showed a progressive decline in serum GH levels toward term (r = -0.42, p = 0.0001), whereas serum IGF-I was increased (r = 0.55, p = 0.0001), as were serum IGF-II (r = 0.21, p = 0.008) and IGFBP3 levels (r = 0.19, p = 0.02), although less markedly. For all hormone levels, wide individual differences were found at any given age of gestation. The incidental presence of fetal malformations in either the normally grown group (n = 107 cases) or the growth-retarded group (n = 50 cases) had no apparent effect on these hormone levels as compared with members of the groups showing no fetal malformations (n = 73 cases). Comparison of the normally grown group with the growth-retarded group showed that serum IGF-I levels were significantly lower in the growth-retarded group (p = 0.001). No differences were found between the groups in serum GH, IGF-II, and IGFBP3 levels, although if data for the third trimester were taken alone, serum IGF-II levels were found to be lower in the growth-retarded group (p = 0.05). In conclusion, during the second half of gestation, fetal serum IGF-I levels may be influenced by nutritional factors controlling fetal growth. However, the wide individual differences in measurements make it a very poor biologic marker of intrauterine growth retardation.

Biomarkers↗
PubMed1996

Development of human renal function: reference intervals for 10 biochemical markers in fetal urine.

Evaluation of fetal renal function by analysis of fetal urine sampled in utero may improve perinatal care after a prenatal diagnosis of bilateral obstructive uropathy. We provide reference intervals for 10 fetal urinary compounds and examine their variation with gestational age. Forty-one fetuses with bilateral obstructive uropathy (urine sampled between 20 and 38 weeks of gestational age) had normal, healthy values for serum creatinine (< or = 50 mumol/L) at ages 1-2 years. These cases were thus assumed to represent a reasonable approximation to healthy values. Sodium and beta 2-microglobulin concentrations significantly decreased with gestational age; calcium, ammonia, and creatinine significantly increased; glucose, phosphorus, chloride, urea, and total protein concentrations did not vary. Our results provide reference values for prenatal evaluation of fetal renal function and suggest that glomerular filtration of macromolecules and tubular reabsorption of glucose and phosphorus are mature by 20 weeks of gestation, whereas tubular reabsorption of sodium and beta 2-microglobulin increases progressively during the second half of gestation.

Biomarkers↗
PubMed1995

Hyperechogenic fetal bowel: an ultrasonographic marker for adverse fetal and neonatal outcome.

OBJECTIVE: Fetal hyperchogenic bowel is associated with a variety of conditions, the incidence of which has yet to be studied. STUDY DESIGN: The outcomes of 182 cases of fetal hyperechogenic bowel were reviewed. Screening for maternal toxoplasmosis, fetal karyotyping, and amniotic fluid digestive enzyme assays were performed in all cases. Eight mutations associated with cystic fibrosis were analyzed in 116 cases. RESULTS: Of 135 newborns, 121 were normal, but nine underwent surgery for gastrointestinal obstruction, three had cytomegalovirus or parvovirus infection, one had a triple X chromosome, and one died from sudden infant death syndrome. In utero fetal death was observed in 24 cases. Elective termination of pregnancy was performed in 23 cases for associated anomalies. CONCLUSIONS: Hyperechogenic fetal bowel was associated with increased risk for adverse outcome. Prenatal management should include ultrasonographic surveillance, fetal karyotyping, amniotic digestive enzyme assays, and screening for cystic fibrosis and infectious disease.

Amniocentesis↗
PubMed1995

Effects of neuromuscular blockade on fetal heart rate variability: a power spectrum analysis.

Spectral analysis of fetal heart rate variability allows quantitative determination of the main components that affect this variability. The physiological significance of these components is unclear; however, movements appear to contribute to variability. We studied six fetuses in which immobility required for in utero magnetic resonance or invasive fetal procedures was achieved by fetal intravascular injection of curare between 32 and 36 amenorrhea weeks. For each fetus, we compared spectral density parameters of heart rate variability. After curare administration, mean spectrum power was halved. We did not observe a larger significant decrease in any (very low, low, or high) frequency band. The other parameters of spectral analysis of variability were unaltered. Fetal movements accounted for a significant proportion of human fetal heart rate variability but did not constitute a unique frequency component.

Curare↗
PubMed1994

Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization.

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.

Amniotic Fluid↗