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Biomedical subjects

D Subtil

Publications and source records attributed to D Subtil.

At least 37 records · Page 2Linked to original sources

Prenatal alcohol exposure and signs of minor neurological dysfunction at preschool age.

High levels of alcohol consumption during pregnancy affect the development of the baby's central nervous system. Pregnant women were interviewed about their alcohol consumption during pregnancy, when they first visited the maternity hospital in Roubaix, France. Of the 698 women interviewed, 156 of their children were investigated at the age of 4 1/2 years with a standardised examination to assess the effects of prenatal alcohol exposure on neurological status. Two scores were calculated: a posture score, which measured items while the child was standing; and a minor neurological signs score. The posture score was not related to prenatal alcohol exposure. Consumption of 21 drinks/week (3 drinks/day) or more during pregnancy was significantly associated with a higher number of minor neurological signs, after controlling for relevant covariables. Although prenatal alcohol exposure was related to a lower General Cognitive Index (GCI), minor neurological signs were associated with prenatal alcohol exposure after controlling for GCI.

Adult↗

[Antenatal diagnosis of limb body wall complex].

The "limb body wall complex" or LBWC is a rare polymalformative syndrome. Two distinct phenotypes of which were recently described: one form with "placento-cranial" adhesion and the other with "placento-abdominal" adhesion. Coelosomia is found in all cases, it variably coexists with encephalic, vertebral, visceral or limb anomalies. Three pathogenesis are proposed: the "early amnion rupture" theory and the "vascular" theory can explain the form with "placento-cranial" adhesion, conversely, the "defective folding process" allows for a better explanation of the form with "placento-cranial" adhesion. These theories do not exclude each other if we accept that this syndrome could be split: the first form would then be the original "LBWC" et could belong to "amniotic band syndrome", the mechanism of which is not precisely known, whereas the second could be named "body stalk syndrome" - "syndrome du cordon court". In any case, this syndrome should be better known so as to be studied and give a prognosis for a later pregnancy, because there is no recurrence.

Abnormalities, Multiple↗

Echographic signs of trisomy 21 in the second trimester of pregnancy: actual value after analysis of the literature.

OBJECTIVE: To evaluate the interest and to compare the major echographic signs of Down syndrome in the second trimester of pregnancy. METHODS: A bibliographic research has been performed for most of the echographic signs known and studied until now. For each study and in average for each sign, we have computed its sensitivity, its specificity, its positive and negative predictive values using the results of the different authors. Then, we have compared the benefits/risk ratio for each of these signs: the number of Down syndrome cases detected versus healthy fetus lost due to amniocentesis complications. RESULTS: The different signs can be ranked according to their benefits/risk ratio from top to bottom as follows: nuchal skinfold thickness, wide space between first and second toe, pyelectasis, large iliac angle, short humerus, short femur, hypoplasia of the middle phalanx of the fifth digit. CONCLUSION: These results suggest that second trimester echographic signs of Down syndrome must be evaluated as a function of the Down syndrome risk in the population under study. The presence of these signs does not always justify an amniocentesis; it should lead to a re-evaluation of the individual risk of a Down syndrome (a chart is given to guide this re-evaluation).

Down Syndrome↗

[Medical indications of labor induction: a comparison between intravaginal misoprostol and intravenous prostaglandin E2].

OBJECTIVES: To assess the effectiveness and safety of misoprostol compared to dinoprostone at term, in cervical priming and labor induction for medical indications. MATERIAL: and methods. Retrospective analysis of 87 patients. 43 patients received intravaginal misoprostol (50microg) and 44 intravenous dinoprostone (0,225 microg/mn with progressive increasing). RESULTS: The mean time from administration to delivery was significantly shorter in the misoprostol group than in the dinoprostone group (10,2 vs 26,0 hours, p<0,01). A significantly greater number of deliveries occurred within 24 hours following administration of misoprostol ( 95 vs 55%, p<0,01). There was no difference in the rates of cesarean section (21 vs 23%, NS), in the rates of tachysystole (30 vs 27%, NS). Hyperstimulations (excessive uterine response: hypertony or tachysystole with non reassuring fetal heart rate) were increased in the misoprostol group, but not significantly (16 vs 7%, NS). Three cesarean sections were performed for hyperstimulation syndrome in the misoprostol group. There was no significant difference between the two agents administered in neonatal outcome or meconial fluid. CONCLUSION: Misoprostol appears interesting in promoting cervical priming and induction of labour at term, but the increased frequency of hyperstimulation and meconial fluid reported in the literature indicate than larger studies than ours are necessary to accurately define the fine incidence of adverse effect. Moreover, dose and administration modalities should be defined by those studies.

Administration, Intravaginal↗

[Nuchal translucency: screening for chromosomal abnormalities and congenital malformations. Multicenter study].

OBJECTIVE: To value the rate of chromosomal abnormalities and evolution of children who had a prenatal diagnosis of fetal nuchal translucency in the first trimester. MATERIAL AND METHODS: Multicenter prospective study conducted in 4,582 patients who had a first ultrasonography between 10 and 14 weeks' gestation (abdominal and/or transvaginal sonography). The measurement of fetal nuchal translucency was performed by mid-sagittal section and when it was higher than 2.5 mm a fetal karyotype was made. RESULTS: Three hundred and fifty eight nuchal translucencies (> 2.5 mm) were diagnosed and 334 karyotypes were done. We found 25 chromosomal anomalies (7.4%): 14 trisomies 21; 7 trisomies 18; 2 trisomies 13; one triploidy and one trisomy X. The postnatal examination of children detected three congenital malformations (0.9%): one facial dysmorphia, one complex abnormal heart anatomy and one renal agenesia. CONCLUSION: Nuchal translucency (> 2.5 mm) is therefore a sonography sign associated with 7.4% of chromosomal anomalies. The distribution by size and mother ages is low. It should need superior larger-scale studies are needed for representative data. But this study shows that if fetal karyotype is normal, the incidence of congenital malformations seems to be the same by comparison with the general population.

Chromosome Aberrations↗

A clinical and epidemiological study of human parvovirus B19 infection in fetal hydrops using PCR Southern blot hybridization and chemiluminescence detection.

Ninety-eight samples from 80 cases of spontaneous abortions after fetal death or hydrops fetalis from 12,000 pregnant women were examined using PCR. DNA was extracted from amniotic fluid, fetal blood, ascitic fluid and fetal biopsies or placenta specimens using QIA amp kits (QIAGEN). A 270-bp length fragment located within the B19 gene NS1 was amplified using PCR followed by electrophoresis and southern-blot hybridization assay using a horseradish peroxidase-labelled probe and chemiluminescence detection. This assay was able to detect 1 to 10 DNA copies in a 10 microliters sample. Parvovirus B19 was identified in 11 cases (14% of fetal hydrops; 1 case for 1,100 pregnancies). Amniotic fluid was the most common and reliable sample to assess the diagnosis. Gestational age ranged from 17 to 28 weeks (mean 23 weeks). IgM antibodies were detected in 3 maternal sera, 2 patients of which reported an exposure to B19 infection during pregnancy. In 2 cases, intrauterine blood transfusions led to the cessation of symptoms and to birth of normal babies.

Adolescent↗

Fetal macrosomia: risk factors and outcome. A study of the outcome concerning 100 cases >4500 g.

OBJECTIVE: Because difficult vaginal delivery is more frequent with macrosomic fetuses, some authors recommend routine caesarean section for the delivery of fetuses >4500 g. The purpose of this study was to evaluate the appropriateness of this recommendation, in particular, to analyze maternal and fetal complications according to the mode of delivery. METHOD: Maternal and neonatal records of 100 infants with weights of at least 4500 g were identified retrospectively from January 1991 to December 1996. Outcome variables included the mode of delivery and the incidence of maternal and perinatal complications. RESULTS: The study sample consisted of 100 infant and mother pairs. Macrosomic fetuses represented 0.95% of all deliveries during this period and only ten were >5000 g. Mean birth weight was 4730 g (maximum, 5780 g). Gestational diabetes was present in nineteen patients. Diabetes was present in three patients. A trial of labour was allowed in 87 women, and elective caesarean delivery was performed in thirteen patients. The overall cesarean rate, including elective caesarean delivery and failed trial of labour, was 36%. Of those undergoing a trial of labour, 73% (64/87) delivered vaginally. Shoulder dystocia occurred fourteen times (22% of vaginal deliveries) and it was the most frequent complication in our series. There were five cases of Erb's palsy, one of which was associated with humeral fracture, and four cases of clavicular fracture. By three months of age, all affected infants were without sequelae. There was no related perinatal mortality and only two cases of birth asphyxia. Maternal complications with vaginal delivery of macrosomic infants included a high incidence of lacerations requiring repair (eleven cases). No complications were noticed in the patients who had a caesarean section. CONCLUSION: Vaginal delivery is a reasonable alternative to elective cesarean section for infants with estimated birth weights of less than 5000 g and a trial of labour can be offered. For the fetuses with estimated birth weight >5000 g, an elective caesarean section should be recommended, especially in primiparous women.

Adult↗

Early detection of caudal regression syndrome: specific interest and findings in three cases.

Caudal regression syndrome (CRS) is a rare malformative syndrome seen mainly in cases of maternal diabetes with poor metabolic control. Early detection by vaginal ultrasound is possible. The authors describe three cases of CRS, relating the characteristic ultrasound findings which include abrupt interruption of the spine at the dorsal or lumbar level and abnormal position of the lower limbs. The femur bones are fixed in a 'V' pattern, giving a typical 'Buddha's poise'.

Adolescent↗

[Choroid plexus cysts and risks of chromosome anomalies. Review of the literature and proposed management].

OBJECTIVE: We propose to specify the different criteria of estimation and management in presence of a ultrasound discovery of a choroid plexus cyst. METHOD: A detailed review of the literature about this subject allowed to better apprehend the different attitudes taken up by the authors. RESULTS: Fetal choroid plexus cysts (CPC) are potentially useful markers for trisomy 18 in as much as they are present in about 50% of affected fetuses and they are easily seen in the standard biparietal diameter view which is obtained for all routine ultrasound scans. However, advice is contradictory as to whether karyotyping should be proposed for all fetuses (1-2% of the population) where fetal CPC are diagnosed. CONCLUSION: The review of the literature show that the majority of the authors advocate amniocentesis when the CPC is associated with another ultrasound abnormality. Isolated, it imposes regular and meticulous morphologic ultrasound supervision to search for another possible associated ultrasound abnormality, if necessary, in a prenatal diagnosis center.

Amniocentesis↗

[Ultrasonographic signs of chromosome aberrations].

We reviewed the literature on ultrasonographic criteria allowing prenatal diagnosis of chromosome aberrations, especially the most frequent: trisomy. Signs vary depending on the term of the ultrasound examination (first trimester ultrasound is often performed to early and several signs are observed in the second trimester). During the first trimester, the main criteria is the diagnosis of nuchal clearness 3 mm. The distance can only be measured with an appropriate sagittal CRL section by an experienced operator. The ideal term of this morphology ultrasound is 10 weeks gestation. During the second trimester, there are many suggestive criteria including non-specific signs: anomalous quantity of amniotic fluid, short femur, nuchal thickness 6 mm, isolated anomaly of the umbilical velocimetry, pyelectasy and fetal malformations (mainly cerebral or abdominal, including ophalocele and diaphragmatic hernia, anomalies, abnormal heart anatomy, cystic hygroma, facial anomalies and malformations of the members, often abnormal flexion of the hands).

Blood Flow Velocity↗

[Twenty practical questions about prenatal corticosteroid therapy].

Since Liggins and Howie first published their work, numerous studies have shown that corticosteroids significantly decrease perinatal mortality and morbidity, without complication for the mothers and child. Corticosteroids should be prescribed in case of threatening premature birth. Imminent delivery premature rupture of the membranes and gestationnal age over 34 weeks are not contraindications to prescription, as corticosteroids can be safely given all in these circumstances. Theoretically, more than half of premature neonates should have been treated with corticosteroids. Actually, only 20% or less are currently treated. The cost-effectiveness ratio of an antenatal corticosteroid policy would be extremely positive: more than 1,500 prenatal deaths could theoretically be avoided in France annually and the overall cost of neonatal care would decrease by 10%.

Anti-Inflammatory Agents↗

[Thoughts on a case of unrecognized congenital rubella].

We recently observed a case of congenital rubella which had gone unrecognized despite regular obstetrical care. This case emphasizes the importance of careful screening for rubella at diagnosis of pregnancy. Minute analysis of the initial maternal antibody levels is essential to rule out possible contamination during pregnancy. The problem of interpreting serodiagnostic data is discussed.

Adult↗

[Fetal cells in the maternal blood: a step towards non-invasive prenatal diagnosis? Review of the literature].

Prenatal diagnosis of genetic abnormalities requires nucleated fetal cells which are currently obtained by invasive techniques such as amniocentesis, chorionic villus sampling and percutaneous umbilical blood sampling. Each of these entails a risk to the foetus and sometimes to the mother. Nucleated fetal cells have been reported to be present in maternal blood. Recovery of fetal cells from maternal blood would allow a noninvasive prenatal diagnosis. Their rarity (1 fetal cell for 10(6) to 10(8) maternal cells) presents a technical challenge. Due to the small number of fetal cells, sensitive analysis techniques such as PCR and FISH are necessary. Some degree of fetal cells enrichment in the maternal blood sample often precedes the analysis. Different techniques are used for the enrichment: discontinuous density gradient, magnetic activated cell sorting, fluorescence activated cell sorting, micromanipulator.... Several prenatal diagnosis have already been performed from maternal venous blood samples: diagnosis of gender, RhD blood genotype, Duchenne muscular dystrophy and hemoglobinopathy by PCR, diagnosis of gender and chromosome aneuploidy by FISH. Many teams are working on this subject. It is difficult to compare the studies because the techniques of enrichment and analysis vary. We review the different strategies chosen for prenatal diagnosis from maternal blood and discuss the results.

Cell Nucleus↗