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Biomedical subjects

Y Dumez

Publications and source records attributed to Y Dumez.

At least 109 records · Page 6Linked to original sources
PubMed1989

Extrathoracic heart (ectopia cordis). Report of two cases and review of the literature.

We report 2 cases of extrathoracic heart (ectopia cordis) operated on a few hours after birth at Laennec Hospital, Paris. The first patient had an associated diastasis of the rectus muscles. The second one, in whom diagnosis was made by ultrasound during fetal life, had a normal abdominal wall. In both cases it was possible to accommodate the heart in the left pleural cavity after a wide dissection of the posterior mediastinum. Both babies, however, died soon after the operation. Double outlet right ventricle was found in both. We have reviewed those cases previously described and discuss the importance of prenatal echocardiographic diagnosis in this rare condition.

Female↗
PubMed1988

Microvillar enzyme assays in amniotic fluid and fetal tissues at different stages of development.

A systematic study of microvillar enzyme activities in the amniotic fluid in correlation with their values in different fetal tissues during development has been undertaken. Microvillar enzymes appeared in the amniotic fluid at the time of disappearance of the anal membrane, 12-13 weeks, and declined from the 18th week until the 24th week. The study of fetal tissues and fluids has shown that gamma-glutamyltranspeptidase is mainly of liver origin. The significant decrease of the activities of these amniotic fluid enzymes has been the basis of prenatal diagnosis of cystic fibrosis. These assays may be useful for the diagnosis of certain digestive tract abnormalities at later stages of pregnancy.

Alkaline Phosphatase↗
PubMed1987

Prenatal diagnosis of severe combined immunodeficiency with defective synthesis of HLA molecules.

The immunodeficiency associated with a defective expression of HLA molecules is an autosomal recessive disorder leading to death during childhood. We have performed prenatal diagnosis for six fetuses at risk for this disease by membrane immunofluorescence on blood lymphocytes and monocytes, using specific monoclonal antibodies for HLA class I and II molecules. Two pregnancies have been found to be affected. The diagnosis has been confirmed on each abortus by the study of the membrane expression of HLA class I and II molecules on blood lymphocytes and monocytes, and on thymic and splenic cells. The four other cases were found to be normal both during pregnancy and after birth. The detection of the defect as early as the 20th week of gestation allows selective termination.

Female↗
PubMed1987

Prenatal diagnosis of chronic granulomatous disease (CGD) in four high risk male fetuses.

Prenatal diagnosis of chronic granulomatous disease (CGD) was performed in four male high risk fetuses. The male sex was previously determined by an amniotic cell karyotype. Three kinds of test were performed on fetal blood obtained by umbilical venous puncture under fetoscopy at the 20th gestational week: nitroblue tetrazolium reduction (NBT) cytochemical test with phorbol myristate acetate (PMA) as activator; luminol enhanced chemiluminescence with activation by serum opsonized zymosan (STZ) or PMA; superoxide anion (0-2) production by measurement of the superoxide dismutase inhibitable reduction of cytochrome c with PMA as activator. Results were compared to those obtained in six fetuses investigated for other inherited diseases. In one case, absence of granulocyte defects was confirmed at birth. In three other cases, the tests showed deficient metabolic oxidative granulocytes. The pregnancy was terminated and the CGD diagnosis was confirmed on the products of abortion. The use of three different techniques performed on whole blood for CGD prenatal diagnosis is recommended instead of a single isolated test to ensure a higher confidence in the diagnosis.

Female↗
PubMed1987

[Termination of pregnancy and evacuation of the uterine contents in the second trimester. Use of a prostaglandin E2 analog: sulprostone].

The authors used sulprostone on 165 women whose pregnancies had lasted more than 12 weeks. The principal indications were: intra-uterine fetal deaths in 65 cases and an antenatal diagnosis of fetal malformations in 75 cases. Three routes of administration of the drug were employed: extra-amniotic in 15 women; intravenous in 62 women; intramuscular in 88 women. The doses used (adding together the intramuscular and intravenous routes) were: ampoule of 500 micrograms of sulprostone in 25% of cases; ampoules in 50% of cases; ampoules in 25% of cases. It was found to be very effective: by the intravenous route 88.70% expelled the fetus in 24 hours with a mean induction delivery time of 11 hours; by the intramuscular route 89.77% expelled in 24 hours with a mean induction delivery time of 11 hours 45 minutes. The side effects were not common: nausea in 17.6%; vomiting in 16.4% and diarrhoea in 6%. Ther marked effectiveness of sulprostone on the one hand and the good tolerance on the other indicate the effects of this product, which are a strong action on the uterus and a feeble action on the smooth muscle of other organs.

Abortifacient Agents↗
PubMed1987

[Antenatal diagnosis of hereditary epidermolysis bullosa].

Among the genetic disorders of the skin, the heterogeneous group of epidermolysis bullosa includes some of the most severe. Prenatal diagnosis is of considerable importance to the families who have had an affected child, or in which one of the parents is affected. The prenatal diagnosis is performed using fetoscopy and fetal skin biopsy. Fetal skin samples are taken at 20 weeks of gestation and are examined by light and electron microscopy to determine whether the fetus is affected. We report here the French experience on prenatal diagnosis of the severe inherited epidermolysis bullosae. Given the severity and frequency of Herlitz syndrome, it is not surprising that this is the most frequently encountered disease in our series of prenatal diagnosis (14 of 21 epidermolysis bullosae), followed by Hallopeau-Siemens (6 cases), and Pasini type (1 case). Our exclusion diagnosis of a Pasini fetus was the first prenatal diagnosis of this type of epidermolysis bullosa performed and reported in the literature. We stress here in this paper that observing the site of separation in the epidermal dermal junction is not sufficient to make a positive prenatal diagnosis. Prenatal diagnosis depends on the observation of the specific ultrastructural marker of the disease such as: hypoplasia and absence of hemidesmosomes and sub-basal dense plate in junctional epidermolysis bullosa-Herlitz, collagenolysis in recessive dystrophic epidermolysis bullosa-Hallopeau-Siemens, and absence and hypoplasia of anchoring fibrils in dominant dystrophic epidermolysis bullosa-Pasini. Until biochemical defects are clarified and suitable tests become available, electron microscopy remains the only current means for reliable, genetically useful, diagnosis of epidermolysis bullosa. In 62 per cent of cases of our series a prenatal diagnosis of exclusion of disease was made and we would stress that in high risk families repeated fetoscopies for prenatal diagnosis are possible in consecutive pregnancies thus allowing the family to have only normal children.

Epidermolysis Bullosa↗
PubMed1986

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.

The close genetic linkage between the gene for congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency and HLA genes allowed us to use the polymorphism of this system as a marker of the disease. HLA genotyping can be performed by using restriction enzyme fragments hybridized with specific probes instead of serologic methods. In seven pregnancies at risk for 21-OH deficiency, a first trimester prenatal diagnosis has been performed by determining the fetal genotype by linkage analysis of DNA from chorionic villi using HLA class I and class II probes. In four of these pregnancies, determination of 17-OH progesterone in first trimester amniotic fluid afforded a complementary approach to the diagnosis.

17-alpha-Hydroxyprogesterone↗
PubMed1986

Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis.

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%.

Amniocentesis↗
PubMed1986

[Primary intestinal lymphangiectasis with antenatal manifestation].

Antenatal ascites diagnosed by ultrasound examination was punctured and shunted in utero. Radiologic, endoscopic and histologic data led to diagnosis of primitive intestinal lymphangiectasia during the second year of life. Antenatal revelation of Waldmann's disease is extremely rare in pediatric literature.

Ascites↗
PubMed1986

[Prenatal diagnosis of genetic diseases using chorionic villi].

Chorionic villi biopsy allows first trimester prenatal diagnosis of some genetic diseases. In this study the results of 163 diagnoses are presented, and among these, 59 diagnoses of autosomal recessive metabolic diseases with 8 observations of congenital adrenal hyperplasia due to 21 OH deficiency and 6 observations of Fanconi anemia.

Adrenal Hyperplasia, Congenital↗