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Biomedical subjects

A S Valat

Publications and source records attributed to A S Valat.

At least 19 recordsLinked to original sources

[Systemic sclerosis and pregnancy].

PURPOSE: Pregnancy in a patient with systemic sclerosis (SSc) may pose a double problem to the medical team: influence of SSc on pregnancy and consequences of pregnancy to SSc manifestations. CURRENT KNOWLEDGE AND KEY POINTS: Concepts have evolved. SSc was considered for a long time not only as not very propitious for pregnancy but also as a strict contraindication for procreation because risks for the mother and the baby were thought to be major. Currently, fertility is thought to be normal. Miscarriages and small-for-gestation age infants rate do not seem to be higher in SSc. Maternal and perinatal mortality is also not higher in SSc without severe visceral manifestations, i.e. without either pulmonary hypertension, or cardiac or respiratory insufficiency. Conversely, there is a significantly higher frequency of premature infants in SSc. As regards influence of pregnancy on SSc, the greatest fear is the occurrence of renal crisis, which may be life threatening for both mother and child. Each elevation of blood pressure, even if this increase is mild, should be considered as potentially very serious. However, pregnancy itself does not seem to increase the risk of renal crisis. Consequences of pregnancy to SSc manifestations are various but usually mild. FUTURE PROSPECTS AND PROJECTS: SSc is not a strict contraindication for pregnancy only if severe organ involvement, diffuse subset of SSc or recent onset of the disease has been ruled out. Physicians should be aware of specific problems, which SSc is possibly posing during pregnancy. Finally, it has been recently suggested that pregnancies could be involved in the pathogenesis of SSc through persisting microchimerism of fetal origin.

Acute Disease↗

[Cerebral fetal MRI and ventriculomegaly].

OBJECTIVE: To evaluate MRI usefulness in diagnosis and management of fetuses with cerebral ventriculomegaly at US. PATIENTS AND METHODS: Sonography depicted cerebral ventriculomegaly in 61 fetuses. Management included MRI in all cases and infectious screening, and karyotype in 51 cases. Final diagnosis was supported by fetal autopsy (n=24), postnatal follow-up>6 months (n=19), infectious screening or karyotype (n=8), and MR imaging when diagnosis was obvious (n=16). RESULTS: MRI was more informative than ultrasonography in 32.8% of cases with identification of the etiology in 21.3% of cases. In 45% MRI and sonography were considered to be normal. In the remaining cases, MRI confirmed the ultrasound diagnosis of cerebral malformation. Ultrasonography never depicted more anomalies than MR imaging. The 2 false negatives were gyration disorders but MR imaging was performed too early. CONCLUSION: US is the imaging modality of choice in the evaluation of fetal anomalies but MRI has to be systematically performed in case of cerebral ventriculomegaly because MRI demonstrates its usefulness in patient counseling, even if there are a few false negative results.

Abortion, Therapeutic↗

[Pathophysiology of gestational diabetes].

During pregnancy, a number of maternal metabolic changes occur early and continue throughout pregnancy which help optimize the transfer of nutrients to the fetus. During normal pregnancy, there are a decrease in insulin sensibility which is physiological, progressive and reverse. For glucose tolerance to be maintained in pregnancy it is necessary for maternal insulin secretion to increase sufficiently to counteract the fall in insulin sensitivity. The metabolic characteristic of women with gestational diabetes is insufficient insulin secretion to counteract the pregnancy related fall in insulin sensitivity. There are a lot of factors that could explain the mechanism of insulin secretion and insulin sensitivity during normal pregnancy and gestational diabetes mellitus. Although glucose tolerance normalizes shortly after pregnancy with gestational diabetes in the majority of women, the risk of developing overt diabetes, especially type 2 diabetes is markedly increased. The mechanisms which could explain gestational diabetes are the same as type 2 diabetes mellitus. We could speculate that these two diseases are identical for alterations in carbohydrate metabolism, but at different stages.

Diabetes, Gestational↗

[Maternal and fetal outcome].

Gestational diabetes, a glucose tolerance disorder of variable severity which occurs or is diagnosed for the first time during pregnancy, constitutes a public health problem because of its frequency (1 to 6% of all pregnancies) and its short-or long term consequences for the foetus and/or the mother. There is as yet still no consensus concerning screening and diagnosis criteria, therapeutic management and the reality of the disease. This population is a high risk population of diabetes mellitus, especially of type 2 diabetes. We could think that the introduction of specific prevention programs in this group could delay or avoid diabetes mellitus and its complications. The mechanisms which could explain gestational diabetes are the same as type 2 diabetes mellitus. We could speculate that these two diseases are identical for alterations in carbohydrate metabolism, but at different stages. It has been reported that the offspring of gestational diabetics mothers are at risk of obesity and glucose intolerance. Therapeutic management of the mother and/or the offspring should be better defined. The screening for gestational diabetes provides an opportunity of identify a large population of women and children at risk of diabetes. It should be possible to avoid diabetes mellitus by specific therapeutic programs in these populations.

Diabetes Mellitus, Type 2↗

[Value of fetal fibronectin research for predicting premature delivery].

OBJECTIVE: To estimate the performance of the foetal fibronectin test as a predictor of preterm delivery. PATIENTS AND METHODS: This prospective study concern 61 patients who had a singleton pregnancy between 24 and 36 weeks of gestation and were hospitalized because of a threatened preterm labor without premature rupture of the membranes. For each patient the presence of foetal fibronectin in cervicovaginal secretions was determined with a rapid swab-test. RESULTS: Prematurity rate was 38% (23 patients). In case of positive result, delivery became before 37 weeks in 75% (12/16) against 24% in case of negative result (11/45). The prolongation of pregnancy after the test was on average 21 days in the positive group and 44 days in the negative group. About the prediction of preterm delivery, the results showed a sensibility of 52%, a specificity of 89%, a positive predictive value of 75%, a negative predictive value of 76%. To predict a delivery within the two weeks after the test, the sensibility was 88%, the specificity 83%, and the negative predictive value 98%. CONCLUSION: The presence of foetal fibronectin in cervicovaginal secretions represent an increased risk of preterm delivery, whereas its excellent negative predictive value allow to be reassuring, especially within a period of 15 days.

Adult↗

[An ischemic pulmonary malformation of the surviving fetus occurring after selective embryo reduction in bichorionic pregnancy. Report of one case and literature review].

We describe, to our knowledge, the first case of a pulmonary malformation called acinar dysplasia occurring at a surviving fetus after selective embryo reduction in a bichorionic pregnancy. The chronological and histological observations suggest that this anomaly may be linked with a feticide achieved at 13 week's gestation. Literature review concerning selective embryo reduction shows rare cases of vascular connections in bichorionic pregnancies especially during the first half of gestation, that can explain in part the apparition of survivor's anomalies.

Adult↗

[Trisomy 18: ultrasound aspects. Report of 40 cases].

OBJECTIVE: We describe the different ultrasound findings suggestive of trisomy 18. PATIENTS AND METHODS: We conducted a retrospective study in 40 cases of trisomy 18 diagnosed in the department of obstetrics at the Lille University Hospital between 1988 and 1998. RESULTS: Eighty percent of the women in this series were multiparous. Mean maternal age at discovery of the trisomy as 33.2 years and the mean gestational age was 20.4 weeks. Fifty-five percent of the cases were discovered during the second trimester of pregnancy, 22.5% during the third trimester and 22.5% during the first trimester. One ultrasound abnormality, at least, was detected in 36/40 cases (90%) a percentage that reached 96.8% taking into consideration the ultrasound examinations performed during the second and third trimesters (30/31 cases). The most frequently detected ultrasound abnormalities were: intra uterine growth retardation (IUGR: 50%), poly-hydramnios (42.5%), limb abnormalities (42.5%), cardiac defects (30%), facial abnormalities (37.5%), meningomyelocele (32.5%), digestive abnormalities (32.5%), urinary tract abnormalities (27.5%), lymphangiectasia and cystic hygroma (15%), and single umbilical artery (12.5%). Medical termination of pregnancy (TOP) was performed in 28 cases. There was one spontaneous miscarriage at 8 weeks and one in utero death (IUD) at 39 weeks in a patient who desired to continue her pregnancy. In 6 cases, the issue of the pregnancy was unknown because the patients were lost to follow-up. In 4 cases (10%), pregnancy was continued to delivery of live babies that only survived a few minutes to 7 days. CONCLUSION: The ultrasound signs suggestive of trisomy 18 change according to the term of pregnancy. At the first trimester, most of the signs are nonspecific, such as cystic hydroma or lymphangiectasia, and do not suggest the need for a karyotype. At the end of the second trimester, an association of various signs that alone would not be highly suspect suggest the need for further exploration in search of other signs: early IUGR, associated or not with poly-hydramnios, limb abnormalities, cardiac defects, omphalocele, diaphragmatic hernia, meningomyelocele, enlarged cisterna magna, choroid plexus cysts, single umbilical artery, facial dysmorphism, facial cleft, hydronephrosis.

Abnormalities, Multiple↗

[Fetal arrhythmias: diagnosis, prognosis, treatment; apropos of 33 cases].

From October 1993 to February 1998, 33 cases of fetal cardiac arrhythmia were investigated by doppler-echocardiography at the Lille infantile and congenital cardiology department. Extrasystolic arrhythmias were the most frequently encountered disorder (25 fetuses, i.e., 76% of cases: 24 instances of extrasystolic auricular arrhythmia and one case of extrasystolic ventricular arrhythmia). They were invariably benign, and apart from one case only required standard monitoring. Tachycardia was observed in 15% of cases (three cases of supraventricular tachycardia [SVT] and two cases of auricular flutter [AF]). In no instance was a cardiopathic syndrome noted. A number of efficient treatments have been described, but the prognosis is often poor in the presence of hydrops fetalis. Direct fetal treatments (cordocentesis) are currently under evaluation, and at present can only be used as a last resort. In our series, one fetus died 15 minutes after transplacental Flecaine (flecainide) administration. Two of the three SVT and the two AF cases were successfully treated. Bradycardia, which was unassociated with extrasystolic arrhythmia, was found in 9% of cases. It is concluded that Flecaine is probably the treatment of choice for supraventricular and ventricular fetal tachycardia, as it has no teratogenic effect and crosses the placenta at a fetal concentration that is 80% of the maternal level. However, the administration of this drug is not without risk. It is known to possess certain negative side effects, and its pharmacological profile and maternal and fetal health risks have not yet been fully investigated. At present, no entirely safe and efficient treatment for fetal cardiac arrhythmia has been found.

Anti-Arrhythmia Agents↗

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↗

[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↗

[Diabetes before pregnancy, apropos of 143 cases].

OBJECTIVE: The authors want to appraise the management of diabetes prior to pregnancy in a local population treated in the Lille University Hospital. METHOD: This is a retrospective study of 143 pregnancies occurring in 111 patients with diabetes prior to pregnancy, between 1987 and 1997, in the Obstetrics Department at the Lille University Hospital. RESULTS: Only one-third of the patients benefited from preconception management; the stability of diabetes during the first trimester was satisfactory in 50% of the cases. The maternal complications are represented by preeclampsia (20%), metabolic complications specific to diabetes (hypoglycemia, ketoacidosis), the aggravation or the emergence of a retinopathy (10%) and polyhydramnios (19%). Concerning the termination of the pregnancies, of the 147 fetuses (four twin pregnancies), 140 newborns in good health, two neonatal deaths, three in-utero deaths and two therapeutic terminations of pregnancy were observed. The fetal malformation rate was 9.5% (14 cases/147). The cesarean section rate was 63%, whereas the fetal macrosomatia rate was 35%, with dystocia in 26% of the deliveries (outside of planned cesareans). Three shoulder dystocia were observed (two requiring the Jacquemier's maneuver and one with transitory plexus brachial palsy for a newborn weighing 5,650 g). CONCLUSION: The authors conclude that preconception management (one-third of the patients in this series) and management of during the first trimester of pregnancy (50% in this series) was insufficient. This fact is perhaps due to the confusion, for many practitioners, with gestational diabetes, which is a very mediatized affection, though much less severe for the fetus and mother.

Adolescent↗

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.

We describe two female fetuses conceived by a nonconsanguineous couple. The pregnancies were interrupted at 31 and 26 weeks of gestation, respectively, because of severe microcephaly. Postmortem X-ray and autopsy studies showed in both fetuses: 1) severe intrauterine growth retardation; 2) facial anomalies characterized by severe microcephaly, sloping forehead, low set and posteriorly angulated ears, prominent eyes, down-slanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; 3) severe brain hypoplasia that was more pronounced in the second fetus; 4) severe rib hypoplasia with posterior rib-gap defects and in case 2 hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); 5) contracture at large joints. No other visceral malformations were observed, and chromosomes were normal in patient 2 and parents. This phenotype has some similarities with different syndromic entities but an identical malformation syndrome seems not to have been described previously. Autosomal recessive inheritance is the most likely cause of this putative "new syndrome."

Abortion, Induced↗

Relationships between severe neonatal thrombocytopenia and maternal characteristics in pregnancies associated with autoimmune thrombocytopenia.

In pregnant women with antecedents of autoimmune thrombocytopenia (AITP), no predictive factor for severe fetal thrombocytopenia has been identified. We evaluated the relationships between the course of the maternal disease before and during pregnancy and the risk of severe fetal thrombocytopenia, in 64 pregnant women with known chronic AITP antecedents, over a 12-year period. 28 pregnant women had undergone splenectomy before pregnancy and 17 experienced severe thrombocytopenia (< 50 x 10(9)/l) during pregnancy (monthly determination). Eight infants presented with severe thrombocytopenia at birth (12.5%), and four in the following days (6.25%). No severe haemorrhage was observed. Severe thrombocytopenia at birth was present in 57% (CI 95% 18-90%) of the infants born to mothers with severe pregnancy-associated thrombocytopenia and splenectomy antecedents, and in 0% (CI 95% 0-15%) of the infants born to mothers who presented none of these antecedents (P=0.001). In thrombocytopenic mothers the infant platelet counts at birth were positively correlated to the nadir maternal platelet count during the index pregnancy (r=0.42, P=0.0075). These results suggest that severe autoimmune disease is a risk factor for severe fetal thrombocytopenia, and that pregnant women with no antecedent of splenectomy nor severe thrombocytopenia during pregnancy have a very low risk of severe fetal thrombocytopenia.

Chronic Disease↗

[Fetal cerebral ventriculomegaly. Etiology and outcome, report of 141 cases].

OBJECTIVE: To present the different etiologies of fetal cerebral ventriculomegaly (VA) and try to evaluate prognosis. MATERIALS AND METHODS: A retrospective analysis was made in 141 cases of fetal cerebral ventriculomegaly diagnosed in our obstetrics department between January 1988 and December 1996. RESULTS: Mean gestational age at diagnosis was 24.8 weeks. Myelomeningoceles were the most frequent etiology (50 cases, 36%), usually diagnosed late in pregnancy (25 weeks gestation). Termination of pregnancy was the most frequent outcome. Agenesis of the corpus callosum (ACC) was observed in 16 cases (11%), 8 of them being diagnosed before birth. This etiology has been an important diagnostic problem until recent years. The advent of improved imaging techniques has facilitated diagnostic procedures. Thus in 1996, the 4 ACC were all diagnosed by prenatal ultrasound. The 8 live infants presented developmental retardation. Termination of pregnancy has been performed more and more frequently in accordance with parent wishes. In 6 cases (4%), the etiology was congenital infection. When a chromosome anomaly was found (7%), ventriculomegaly was always associated with other ultrasonographic anomalies. Ventriculomegaly was associated with other malformations in 23% of the cases but only 17% were discovered prenatally; all the live infants but one had severe neurological impairment. Ventriculomegaly was considered to be the unique anomaly in 37% of the prenatal cases and was truly unique in 24%, an etiology being found in 6%. No explanation was found in 18%. The outcome of live infants is known in 139 cases (2 children lost to follow-up) after a 6 month to 6 year follow-up. Overall prognosis was severe as among the 42 infants (30%), 14 (10%) are well including 12 who had ventriculomegaly alone. CONCLUSION: Prenatal diagnosis of ventriculomegaly implies a severe prognosis. Only children presenting limited ventriculomegaly alone have normal neurological development. In case of ventriculomegaly, clinicians must search carefully for other anomalies, always associated with poor prognosis.

Agenesis of Corpus Callosum↗

[Triploidies].

Triploidies are pregnancies that show a 69 chromosome karyotype. This chromosomal abnormality gives rise to early abortion in most cases. Triploid pregnancies, after the first three months, become molar pregnancies (molar changes inside the placenta with identifiable embryonic structures and a preeclampsia) or non molar pregnancies (isolated intauterin growth retardation). Several possibilities concerning the origin of the additional set of chromosomes exist: dispermy (the most common), diandry and digyny. The maternal and fetal clinical manifestations of this chromosomal abnormality are very diverse, which explains the difficulty of finding and recognizing this pathology. Mac Fadden's classification does not explain all the phenotypic triploid physiopathology. Formal diagnosis of triploidy depends on the fetal karyotype. The better the maternal prognosis is, the worst the fetal prognosis is. Postnatal life expectancy is not more than a few weeks. In most cases, maternal associated complications disappear with the molar evacuation. The risk of post molar tumor is discussed. However, good management of triploidy is based on an early diagnosis, before birth if that is possible.

Abortion, Spontaneous↗

[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↗