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Biomedical subjects

F Rodesch

Publications and source records attributed to F Rodesch.

At least 19 recordsLinked to original sources

Prenatal diagnosis of congenital cytomegalovirus infection: prospective study of 237 pregnancies at risk.

OBJECTIVE: To develop recommendations for prenatal diagnosis of congenital cytomegalovirus (CMV) infection and evaluate possible prognostic markers. METHODS: We studied 237 pregnant women who had suspected or confirmed primary CMV infections by amniocenteses with or without funipuncture. Diagnosis of CMV was based on culture and polymerase chain reaction (PCR) done on amniotic fluid (AF) samples; fetal blood tests for CMV immunoglobulin M antibodies, PCR, and nonspecific biologic markers; and repeated ultrasound examinations. In cases of pregnancy termination, viral and pathologic examinations of fetuses were done. At birth, CMV infections were sought in newborns. Pediatric follow-up was scheduled for at least 2 years. RESULTS: Of 210 fetuses and newborns correctly evaluated, 55 had CMV infections. Ten of 38 fetuses infected before 20 weeks' pregnancy had severe congenital disease. The global sensitivity of prenatal diagnosis was 80%. Best sensitivity and 100% specificity were achieved by PCR done on AF sampled after 21 weeks' gestation, respecting a mean interval of 7 weeks between diagnosis of maternal infection and prenatal diagnosis. Fetal thrombocytopenia was associated with severe fetal disease. Ultrasound follow-up missed two fetuses who presented with neurologic impairment due to CMV after birth. CONCLUSION: A reliable prenatal diagnosis of congenital CMV infection based on PCR on amniocentesis samples can be made after 21 weeks' pregnancy, after a 7-week interval between diagnosis of maternal infection and antenatal procedure. Ultrasound and nonspecific biologic parameters are not sufficient to identify all fetuses at risk of severe sequelae.

Biomarkers↗

Adenoid cystic carcinoma of Bartholin's gland: what is the optimal approach?

AIMS AND METHODS: We report the case of a locally advanced adenoid cystic carcinoma of Bartholin's gland which required posterior pelvic exenteration, radical vulvectomy and ablation of the ischiorectal fossa in order to obtain tumour clearance with negative margins. Including this case, only three pelvectomies have been performed for this disease. This is the first reported case in which a controlateral unsuspected intravulvar metastasis was found on histology. RESULTS AND CONCLUSIONS: No consensus exists on the adequate surgical management of this particular disease. Nevertheless, a review of the literature and this reported case suggest that radical vulvectomy with negative margins should be preferred to wide local excision as the primary surgical procedure. It also suggests that inguinofemoral lymph-node dissection should only be performed when suspect lymph nodes are found at clinical examination.

Bartholin's Glands↗

Intracerebral transplantation of fetal ventral mesencephalon for patients with advanced Parkinson's disease. Methodology and 6-month to 1-year follow-up in 3 patients.

In order to launch a new transplantation program for Parkinson's disease (PD), we evaluated the safety and efficacy of fetal ventral mesencephalic grafts in 3 patients with advanced PD. Inclusion criteria and clinical evaluation followed strictly the Core Assessment Program for Intracerebral Transplantation. The transplantation procedure was based on the technique previously described by the groups in Lund (Sweden) and Créteil (France). The putamen contralateral to the site of predominant symptoms was unilaterally grafted in all patients. Magnetic resonance (MR)-based stereotactic guidance with multiplanar correlation was used to define 3 implantation trajectories in the precommissural, commissural, and postcommissural putamen. Fetal ventral mesencephalon was prepared from 6- to 8-week-old human embryos obtained from same-day abortions. Under general anesthesia, 8 deposits of 3 microliters of the fetal tissue were placed 1 mm apart along each implantation trajectory using a customized microsyringe and needle attached to the stereotactic frame. The patients recovered uneventfully from the neurosurgical procedure. Early postoperative MR clearly showed the implantation trajectories reaching the putamen in all patients. The follow-up period was of 12, 9 and 6 months, for each of the 3 patients, respectively. Clinical changes appeared between 3 and 6 months after transplantation and consisted of an increase in the 'on' periods and in quantitative bilateral improvement in the motor timed tests. There was an improvement of the Unified Parkinson's Disease Rating Scale score and an improvement of rigidity. Tremor was unchanged, and there was a slight and transient increase in dyskinesias. Neuropsychological follow-up revealed slight frontal alterations in 2 patients. Positron emission tomography demonstrated an increase of 18F-fluorodopa uptake in the grafted site. Adverse events include a reversible Cushing syndrome secondary to immunosuppression in 1 patient and a transient episode of confusion in another. The results of this study, designed as a prerequisite for a wider transplantation program, are in accordance with those previously reported by others and show that, using standardized neurosurgical techniques and methods of evaluation, transplantation is a reproducible and safe therapeutic approach which provides clinical benefits to patients with advanced PD.

Brain Tissue Transplantation↗

Monoamniotic twin cord entanglement. A case report with color flow Doppler Ultrasonography for antenatal diagnosis.

BACKGROUND: Monoamniotic twinning is a rare event with a high perinatal mortality rate from cord accidents. To date, only a few cases have been reported in which cord entanglement was diagnosed with Doppler ultrasonography. CASE: In a monoamniotic twin pregnancy, umbilical cord entanglement was diagnosed at 20 weeks' gestation by color flow Doppler ultrasonography. The entanglement was associated with growth discordance between the twins and subsequent death of the smaller fetus. CONCLUSION: The rarity of this condition hinders our understanding of the pathophysiology and development of management protocols.

Amnion↗

Selective feticide by embolization in twin-twin transfusion syndrome. A report of two cases.

BACKGROUND: The early development of complications in twin-twin transfusion syndrome is a poor prognostic sign. For this reason, new techniques for intrauterine therapy are being developed: invasive options, such as selective feticide of one of the twins, have been reported. CASES: Two cases of twin-twin transfusion syndrome in the late second trimester were treated by selective feticide using vascular embolization to the more severely damaged fetus. In one case the embolized fetus was a hydropic recipient with a normal cotwin; in the other, the donor fetus was affected by bilateral hydrocephalus. These fetuses underwent ultrasound-guided embolization using a bolus of histoacryl injected into the umbilical vein and fetal heart. Both patients went on to deliver healthy singletons in the third trimester. CONCLUSION: In twin-twin transfusion syndrome of early onset, embolization may help one of the twins survive. This technique is neither time-consuming nor expensive and does not require a general anesthetic.

Adult↗

Complete hydatidiform mole and coexisting normal fetuses. A report of two cases with contrasting outcomes.

BACKGROUND: Multiple pregnancies consisting of a complete hydatidiform mole and coexisting fetuses are relatively rare but may become more common due to the increasing use of ovulation-induction agents. CASES: We report on a twin and a triplet pregnancy, conceived using clomiphene citrate, with contrasting outcomes. The twin pregnancy resulted in a term delivery of a healthy singleton and the triplet pregnancy in a termination at 17 weeks followed by the development of choriocarcinoma. CONCLUSION: The few cases available suggest that a subgroup of complete moles follows a more benign course and can be managed conservatively, allowing the pregnancy to go to term with appropriate follow-up, whereas other cases follow a more aggressive course. Larger case series are needed to develop definitive protocols.

Adult↗

Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin.

Congenital bilateral perisylvian syndrome was diagnosed in a two-year- old boy with signs of pseudobulbar and diplegic cerebral palsy presenting on MRI a polymicrogyric appearance of the perisylvian regions. He was born from a monochorionic bi-amniotic twin pregnancy complicated by twin-twin transfusion syndrome and death of the co-twin between the 16th and 18th weeks of gestation. Ventricular enlargement and hepatic hyperechogenic lesions were seen during his sonographic intra-uterine follow-up. The authors suggest that ischaemic injury occurred in this patient as a consequence of acute haemodynamic changes induced by the death of his co-twin.

Cerebral Aqueduct↗

Twin-twin transfusion syndrome--possible roles for Doppler ultrasound and amniocentesis.

A 29-year-old woman was referred for suspicion of twin-twin transfusion syndrome (TTTS). Several ultrasonographic and neonatal criteria of TTTS were encountered in this twin pregnancy. The peculiar observations in this case were, firstly, the demonstration of superficial anastomosis by Doppler ultrasound and, secondly, that one single therapeutic amniocentesis could have been sufficient to partially correct the progression of the syndrome, as after amniocentesis it was no longer possible to demonstrate the vascular communication. This observation suggests that superficial anastomoses could also have a role in the genesis of TTTS. Their effect could be monitored by Doppler ultrasound and could be more easily corrected by therapeutic amniocentesis.

Adult↗

Experience with 1251 transcervical chorionic villus samplings performed in the first trimester by a single team of operators.

OBJECTIVE: We report our experience with 1251 chorionic villus samplings (CVS) performed by a single team of operators. STUDY DESIGN: From April 1984 through August 1993, 1251 CVS were performed in 1236 pregnancies. The transcervical route was used in the vast majority and the sampling was performed during the 9th through 13th weeks of gestation in 1193 cases (96%). Follow-up was ensured to tabulate the pregnancy-related complications and fetal loss rate until 28 weeks' gestation. Pregnancy outcome was documented for all but 36 women (3%). RESULTS: Most of the tests (72%-891/1236 pregnancies) were performed for advanced maternal age (> or = 35 years). The percentage of each indication remained relatively stable, around 90% for chromosomal indications and between 8 and 11% for DNA studies. Samples adequate for diagnosis were obtained in one or two sessions in 1179 pregnancies (95%). The rate of spontaneous abortion possibly related to CVS was 2.5% (28/1092). Mosaicism confined to the placenta was found in 23 cases (1.8%). The pregnancy outcome was known in 1098 pregnancies. There were 10 perinatal losses (0.9%) and nine congenital malformations (0.8%). No transverse limb defects were observed. The rate of premature deliveries (4.6%) and of small for gestational age were comparable to the general uninstrumented population. CONCLUSION: CVS is a safe and effective mode of antenatal diagnosis when performed by a single team of experienced operators.

Adult↗

Management of the growth-restricted fetus: the role of noninvasive tests and fetal blood sampling.

OBJECTIVE: To assess the accuracy of two noninvasive tests, the nonstress test (NST) and Doppler velocimetry of the umbilical artery, in predicting fetal acidemia or hypoxia demonstrated by funipuncture, and to determine any association between acidemia or hypoxia and perinatal outcome. METHODS: The study included 112 consecutive growth-restricted fetuses diagnosed by ultrasonography between 26-39 weeks' gestation. For Doppler sonograms, the absence of end-diastolic flow was considered pathologic. Acidemia and hypoxia were defined as a pH and an oxygen pressure (PO2) below the fifth percentile at the given gestational age. The fetuses were classified according to the results obtained by the different tests (Doppler velocimetry, NST, cord blood gases). RESULTS: Fetuses with one or both noninvasive tests abnormal (group A, N = 32) had a significantly lower mean gestational age at sampling than those fetuses with both noninvasive tests normal (group B, N = 80). Mean pH and PO2 values for groups A and B were significantly different. Obstetric and perinatal data were collected, and a statistically significant difference was demonstrated between those with a pH and/or PO2 below the fifth percentile and those with a pH and PO2 above the fifth percentile for all indices except birth weight below the tenth percentile. CONCLUSION: Fetal growth restriction is a benign condition in physically normal fetuses if both noninvasive tests and pH and PO2 measured by funipuncture are normal in the absence of maternal pathology. One single fetal blood analysis for pH and PO2 helped separate groups having different obstetric and neonatal outcomes.

Female↗

Accuracy of amniotic fluid testing before 21 weeks' gestation in prenatal diagnosis of congenital cytomegalovirus infection.

Cytomegalovirus (CMV) is the most common cause of intrauterine infection. Recent publications show amniocentesis to have an 81-100 per cent sensitivity in antenatal diagnosis after 21 weeks' gestation. Testing before 21 weeks' gestation is less well documented. We performed 36 amniocenteses between 14 and 20 weeks' gestation. The sensitivity was 45 per cent and the specificity 100 per cent. Implications and possible causes of this low sensitivity are discussed.

Amniocentesis↗

Hepatic cysts and hyperechogenicities: perinatal assessment and unifying theory on their origin.

The authors report their experience with the perinatal diagnosis of six cases of hepatic cyst and six of liver hyperchogenicities. The in utero diagnosis of hepatic cysts was difficult when the cysts were large or subhepatic. A precise diagnosis was sometimes achieved only after surgery. Small intraparenchymal cysts tended to regress spontaneously. Liver hyperechogenicities were diffuse or localized. They were unrelated to liver infection, tumors, meconium peritonitis or biliary tract anomaly. Both entities could be related to vascular disruption phenomenon (VDP) in which structural anomalies result from damage to normal development of embryonic or fetal vessels with anomalies of perfusion to the developing organs. The consequences of VDP to the liver are variable depending on the time and duration of the phenomenon. Localized infarct or ischemia can fibrose or calcify leading to segmental hyperechogenicities. Necrosis with tissue reabsorption can be the origin of some (sub)hepatic cysts. When such anomalies are detected there should be a careful study of the placentation, and a search for potential associated anomalies should be undertaken.

Cysts↗

[Monitoring and treatment of fetal maternal allo-immunization. Role of cordocentesis].

OBJECTIVE: Diagnosis and treatment of haemolytic disease of the fetus has considerably progressed since the introduction of Liley's diagram. Amniocentesis and cordocentesis have changed diagnostic and therapeutic options. Recently, some authors pleaded for restraint in diagnostic cordocentesis. In this context of relative controversy, we wanted to compare our results with those of the literature. SUBJECTS AND METHODS: Thirty-nine pregnancies complicated by antigen incompatibilities were referred to our unit. The haemolytic disease was evaluated by the measurement of antibody titers, by spectrophotometry in the amniotic fluid, by measurement of fetal haematocrit in cord blood samples and by ultrasound examination. Sixty-four amniocenteses, 85 cordocenteses and 25 in utero transfusions were performed. RESULTS: Alloimmunization anti-D represented 67% of the cases in our series of 39 pregnancies. Fifteen percent of the fetuses were antigen negative. One neonatal death after chorioamnionitis was observed after cordocentesis, the fetal loss rate related to the procedure was 1.2%, Six fetuses had a haematocrit below 30% at the first sampling; 9 other fetuses developed an anaemia later in pregnancy. Six fetuses underwent in utero transfusion. One of these fetuses had hydrops at the ultrasound before the procedure. Twenty-five in utero transfusions were uncomplicated in spite of the observation of one post-transfusional haematoma of the umbilical cord. The delta OD450 measurement did not predict the severity of fetal anaemia in all cases. CONCLUSION: In our experience, the fetal haematocrit measurement remains the most reliable method to evaluate the severity of the haemolytic disease.

Amniocentesis↗

Experience of a single team of operators in 891 diagnostic funipunctures.

OBJECTIVE: To assess the efficacy and safety of diagnostic funipuncture. METHODS: Between October 1985 and November 1993, fetal circulation was accessed 891 times in 828 pregnancies. The technique was similar to that described in earlier studies. We did not make more than two attempts at the procedure in any session. Each procedure was recorded prospectively in a computerized data base. Data included information about indications, laboratory indices, gestational age, number of successful and failed punctures, duration of fetal bradycardia, duration of bleeding, ultrasonographic findings, follow-up of pregnancies, and perinatal outcome. RESULTS: The most frequent indication was rapid karyotyping (48.9%), followed by risk of congenital infection (38.6%). The success rate of the method was high (98.6%). Most samples (97%) were pure fetal blood, undiluted by amniotic fluid. Transient bleeding was observed from the cord puncture site in 9.8% of the procedures. Sixty-three percent of prolonged bradycardia occurred in growth-retarded or congenitally malformed fetuses. Seven fetal and neonatal deaths (five pregnancies) occurred within 1 week after the funipuncture; the funipuncture indication was rapid karyotyping in four of these cases. CONCLUSION: Funipuncture performed by operators trained in ultrasonic needle guidance is a safe and reliable procedure.

Blood Specimen Collection↗

Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis.

The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated brady-cardia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Günther's disease are extremely rare and such an observation, according to our knowledge, is probably one of the first described.

Aminolevulinic Acid↗