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Biomedical subjects

M V Senat

Publications and source records attributed to M V Senat.

At least 19 recordsLinked to original sources
PubMed2003

Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population.

OBJECTIVE: To analyze the indications and the results of invasive testing for fetal karyotyping for ultrasound abnormality in the third trimester of pregnancy, when first- and second-trimester screening tests were negative. METHODS: Retrospective study of 171 consecutive pregnancies that underwent invasive testing after 28 weeks of gestation in 2 institutions between January 1999 and December 2001. Forty-one patients did not have any form of screening for fetal aneuploidy beforehand. One hundred and thirty of them had a normal first-trimester scan and a low risk of fetal aneuploidy by nuchal translucency and/or maternal serum screening and were included in the statistical analysis. RESULTS: Mean maternal age, gestational age at diagnosis and at invasive testing were 30.5 years; 29.3 weeks and 32.5 weeks respectively. Amniocentesis and fetal blood sampling were performed in 97 and 33 cases respectively. The most frequent indications for invasive testing in the third trimester were major fetal malformations (51%) and intrauterine growth restriction (19%) detected on routine second- or third-trimester ultrasound examination. Ultrasound markers of aneuploidy and polyhydramnios accounted for 17 and 11% of the indications respectively. Fetal karyotype was normal in 121/130 cases. A gene mutation was found in one case. The karyotype was abnormal in nine cases, including seven cases of aneuploidy (one Turner syndrome, three trisomy 18, and three trisomy 21) and two cases of structural chromosomal abnormalities (46,XX, del 4 p16.1 and 46,XX, dup1). One hundred cases resulted in the delivery of a normal baby. Thirty cases led to termination of pregnancy or intrauterine death due to major fetal malformations (N = 25), abnormal karyotype in six of these, and severe IUGR (N = 5) with normal karyotype. Fetal US markers of aneuploidy and isolated polyhydramnios were associated with a favorable outcome in all cases.A significant increase in the risk of chromosomal anomaly was seen when two or more anomalies were found, rising from 2% with one anomaly to 21% when two or more anomalies were present. CONCLUSION: In low risk patients, fetal karyotyping in the third trimester may be justified when the diagnosis of fetal malformation is made in the third trimester of pregnancy. Two or more anomalies increase the risk of fetal aneuploidy even with a negative-screening test in the first and second trimester of pregnancy.

Abnormalities, Multiple↗
PubMed2003

Intra- and interoperator variability in fetal nasal bone assessment at 11-14 weeks of gestation.

OBJECTIVES: Examination of the fetal nasal bones by ultrasound between 11 and 14 weeks of gestation has been proposed as an additional tool in the detection of trisomy 21 in a high-risk population. However the variability in the identification of fetal nasal bones by ultrasound has not yet been investigated. The aim of this study was to assess the intraobserver and interobserver reproducibility of fetal nasal bone identification by ultrasound between 11 and 14 weeks of gestation. METHODS: A total of 1040 consecutive ultrasound examinations were performed at 11-14 weeks of gestation for nuchal translucency (NT) measurement and nasal bone identification by ultrasound. A total of 657 consecutive video-loops were assessed by three experienced operators. Each operator assigned cases to one of three categories, namely present, uncertain or absent nasal bones, and the results were compared between operators. To assess the intraoperator variability each operator reviewed 100 randomly selected videos out of the 657 loops and again used the same classification. Results were compared by pairwise unweighted and weighted Kappa index to evaluate the inter- and intraoperator variability. RESULTS: Among the 1040 fetuses, there were 51 (4.9%) with an NT measurement above the 95th centile. Nasal bones were identified by ultrasound in 948, not seen in eight and impossible to assess in 84 fetuses. Four fetuses had trisomy 21 including three with absent nasal bones and increased NT and one with present nasal bones and normal NT. The Kappa and weighted Kappa values for interoperator variability between the three operators were between 0.26 and 0.37 and 0.33 and 0.44, respectively. The Kappa and weighted Kappa values for intraoperator variability were between 0.35 and 0.48 and 0.43 and 0.55, respectively. CONCLUSION: The assessment of fetal nasal bones is only fairly reproducible. Although the performance of the test in fetuses at high risk for trisomy 21 has been reported to be good, its implementation as an additional screening technique in the general population must be accompanied by teaching and quality control programs.

Down Syndrome↗
PubMed2003

The value of middle cerebral artery peak systolic velocity in the diagnosis of fetal anemia after intrauterine death of one monochorionic twin.

OBJECTIVE: The purpose of this study was to assess the value of the fetal middle cerebral artery peak systolic velocity in the prediction of anemia within 24 hours of the death of one monochorionic twin in twin-to-twin-transfusion syndrome and to establish the correlation between middle cerebral artery peak systolic velocity and hemoglobin concentration in fetuses who are at risk for acute anemia. STUDY DESIGN: Doppler examination of the middle cerebral artery peak systolic velocity was performed in 20 monochorionic survivors of pregnancies that were complicated by twin-to-twin-transfusion syndrome that occurred between 20 and 34 weeks of gestation. Doppler examination was performed before cordocentesis and after intrauterine transfusion when appropriate. Both hemoglobin concentration and middle cerebral artery peak systolic velocity were expressed in multiples of the median. Severe anemia was defined as hemoglobin concentration of <0.55 multiples of the median, and we used the cutoff point of 1.50 times the median values at any gestational age to calculate the sensitivity and specificity of middle cerebral artery peak systolic velocity in detecting moderate or severe anemia. RESULTS: Fetal anemia was confirmed in 10 of 20 fetuses. We performed seven intrauterine transfusions. The sensitivity and specificity of middle cerebral artery peak systolic velocity in the prediction of severe fetal anemia were of 90%, with a false-negative rate of 10%. The correlation between peak systolic velocity and hemoglobin concentration both before and after transfusion was evaluated by regression analysis and was strongly significant. CONCLUSION: In fetuses who are at risk of acute anemia, the measurement of middle cerebral artery peak systolic velocity was found to be a reliable noninvasive diagnostic tool and may be helpful in counseling and planning invasive assessment.

Acute Disease↗
PubMed2003

The use of lidocaine for fetocide in late termination of pregnancy.

OBJECTIVE: To assess the use of lidocaine (1%) to induce permanent fetal cardiac asystole for fetocide in late termination of pregnancy. DESIGN: Prospective observational study. SETTING: One tertiary referral fetal medicine unit in France. SAMPLE: Fifty patients undergoing termination of pregnancy between 20 and 36 weeks of gestation for severe abnormalities or severe maternal conditions. METHODS: Fetocide was performed by umbilical vein puncture under ultrasound guidance with injection of sufentanil (5 microg) followed by 7 to 30 mL of lidocaine (1%). MAIN OUTCOME MEASURES: Percentage of successful procedures to obtain permanent fetal cardiac asystole and maternal side effects. RESULTS: The procedure was successful in 92% of cases (46/50) with complete cessation of heart activity. The mean amount of lidocaine was 15.3 (6.5) mL. In three cases, fetocide was performed by cardiocentesis and in one case lidocaine was unsuccessful and fetocide was performed with KCl. There were no maternal side effects. CONCLUSIONS: Lidocaine is an effective drug to perform fetocide with doses below the toxic dose for the mother.

Abortifacient Agents, Steroidal↗
PubMed2002

Funipuncture for fetocide in late termination of pregnancy.

The most widely used method for fetocide in late termination of pregnancy for fetal abnormalities (TOPFA) consists of injecting of potassium chloride (KCl) into the fetal heart and is likely to be painful after 22 weeks of gestation. We studied ten consecutive women undergoing TOPFA between 22 and 38 weeks. This technique for fetocide consisted of a single umbilical vein puncture under ultrasound guidance with injections of sufentanil 5 microg followed by KCl 2 g. No electrocardiographic modifications could be observed and maternal plasma potassium levels did not show any significant variation throughout the procedure. Fetal umbilical phlebotomy for fetal analgesia followed by fetocide therefore appears to be a safe procedure for the mother and allows the fetus to die without pain when late termination of pregnancy (TOP) is indicated.

Abnormalities, Multiple↗
PubMed2002

Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype.

OBJECTIVE: This study was conducted to evaluate pregnancy outcome and mid- and long-term prognosis of cases with nuchal translucency > or =4 mm and normal karyotype. METHODS: Retrospective analysis of 160 cases who presented with a nuchal translucency > or =4 mm when the CRL was between 45 and 84 mm was undertaken. Cystic hygromas were excluded. When the karyotype was normal a detailed anomaly scan was performed at 20 to 24 weeks followed by serial ultrasound examination. Clinical examination of the neonates was performed by a paediatrician. Long-term follow-up was completed through a questionnaire filled in by parents, GPs and paediatricians. RESULTS: 160 fetuses had an NT > or =4 mm. 44.3% had an abnormal karyotype. Of the 55.7% with normal karyotypes, 74 % did not show any abnormalities on follow-up ultrasound scan. Mid- and long-term outcome was known in 91% of the cases. 6.4% had a malformation diagnosed only at birth. Among the normal neonates, 11.1% are considered to have a significant neurological handicap or orthopaedic problems at 12 to 72 months of age. CONCLUSION: In an unselected population, NT > or =4 mm is associated with a high incidence of chromosomal and non chromosomal abnormalities. Even when the fetal karyotype and serial ultrasound examinations are considered to be normal, the risk of fetal malformation and developmental delay should not be underestimated.

Adult↗
PubMed2002

Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21.

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males.

Adult↗
PubMed2002

[What's new in fetal medicine?].

One of the major progress in fetal medicine in recent years is the increased sensitivity of sonographic screening for foetal malformations, due to technical improvement but also to a better training of professionals. Screening for chromosomal abnormalities is no longer based on maternal age alone. Second trimester maternal serum screening (MSS) is increasingly used: thus in 1997, 376,798 MSS tests were performed in France, yielding to the prenatal diagnosis of 391 cases of Down's syndrome. First trimester sonographic nuchal translucency measurement (NTM) is an effective screening method when performed under stringent conditions. Quality control however, is more difficult to implement on a large scale for NTM than for MSS. Performing screening tests sequentially carries a danger of generating an unnecessarily high number of amniocentesis, which may be obviated by a rational calculation of an individual's risk to carry an aneuploid baby. First trimester MSS is expected to become standard practice in the next years, probably in combination with NTM. Cytogenetics underwent substantial innovations recently, due to the ever-increasing use of molecular cytogenetics. FISH techniques allow: 1) precise analysis of unexpected structural chromosomal abnormalities diagnosed by routine amniocentesis, 2) rapid screening of the most common aneuploidies by amniocentesis when a fetal structural anomaly is detected by 3rd trimester ultrasound, 3) diagnosis of micro-deletions suspected by fetal ultrasound or post-mortem. Prenatal diagnosis by maternal blood sampling and fetal cells or DNA analysis is now part of routine clinical practice in selected cases, such as fetal sexing in families affected by an X linked disease. Thus one can select those pregnancies eligible to invasive prenatal diagnosis. Pre implantation diagnosis, which has not been legal in France until 1999 is now increasingly used as an alternative to first trimester diagnosis. As for fetal therapy, a major recent breakthrough is the prenatal management of twin to twin transfusion syndrome by either amnioreduction or laser coagulation of inter-twin vascular shunts. In addition, new pathophysiologic concepts involving the renin angiotestin system could lead to further therapeutic innovations. A European randomised trial is now being completed to establish the respective indications of drainage and Laser. All this underscores that fetal medicine is no longer solely a succession of dramatic technical breakthroughs, but is entered an era of large-scale diffusion that requires evidence based evaluation.

Adult↗
PubMed2002

Sonographic diagnosis of spina bifida at 12 weeks: heading towards indirect signs.

Retrospective examination of ultrasound images obtained at 12 weeks of gestation in two fetuses with spina bifida demonstrated retraction of the frontal bones, resulting in an acorn-shaped head, the cerebral peduncles appearing parallel to each other. These craniocerebral signs may improve the accuracy of first-trimester diagnosis of spina bifida by sonography.

Female↗
PubMed2002

Subependymal pseudocysts in the fetal brain: prenatal diagnosis of two cases and review of the literature.

Subependymal pseudocysts are cerebral cysts found in 5% of all neonates. When they are isolated and typical, they result from persistence of the germinal matrix, have a good prognosis and regress spontaneously within a few months. However, associated anomalies are frequent and in such cases the prognosis is poor. They can be of infectious, vascular, metabolic or chromosomal origin. Subependymal pseudocysts have rarely been described in the antenatal period. We report the prenatal diagnosis of two cases of isolated pseudocysts at 32 and 23 weeks. Both ultrasonography and magnetic resonance imaging assisted in the diagnosis and there was normal postnatal outcome in both cases.

Adult↗
PubMed2002

[Contribution of Doppler exploration of ductus venosus flow].

Among the different means currently available to assess fetal hypoxia and determine the optimal time for fetal extraction in case of intra-uterine growth retardation (IUGR), Doppler measurement of blood flow in the ductus venosus (DV) is one of the most promising. The DV is one of the three fetal circulation shunts observed in utero. Approximately 55% of the oxygenated blood flowing from the umbilical vein to the foramen ovale and the left cavities short circuits the hepatic circulation via the DV. This oxygenated blood is preferentially directed to the myocardium and the brain. Measurement errors (suprahepatic veins, umbilical veins) can lead to erroneous diagnosis of defective DV. Inversely, there is a normal physiological reverse flow in the suprahepatic veins and the inferior vena cava not present in the DV. In case of fetal hypoxia, the proportion of oxygenated blood increases due to increased flow from the umbilical vein into the DV, increasing the proportion of oxygenated blood delivered to the heart and brain instead of the liver. This corresponds to fetal adaptation to hypoxia and the spectrum of the DV thus normally includes a positive wave. When the fetus is unable to adapt to hypoxia, there is an alteration of the right heart function observable in the DV spectrum with diminished diastolic flow or even zero or reverse flow. Anomalous CV flow is a sign of major deterioration of the fetal status before development of severe anomalies. For many, the short-term variability implies immediate extraction of the fetus. Certain well trained teams combine DV flow with other information such as the biophysical examination of the fetus, the quality of the amniotic fluid, visual and automated growth retardation measurements, and other Doppler measurements for decision making. Doppler measurements of the DV, disclosing IUGR or made during surveillance of IUGR, are theoretically made only if other Doppler findings such as arterial redistribution are abnormal. Doppler assessment of DV flow is not a first intention procedure and only concerns a small high-risk fetal population. Experience and good knowledge of fetal anatomy and the Doppler technique are required (it is easy to confuse the physiological spectrum of the suprahepatic veins with a negative wave corresponding to pathological DV flow).

Animals↗
PubMed2002

[Corticosteroid for fetal lung maturation: indication and treatment protocols].

Fifteen randomized studies in Crowley's analysis compared a group of patients receiving, a single course of steroids versus placebo between 24 and 34 weeks of gestation. It clearly demonstrated the benefit of a single course of steroids in the prevention of the prematurity-related complications with a decrease in neonatal mortality, a decrease in the incidence of respiratory distress syndrome, a reduction in the incidence of intraventricular haemorrhage and a reduction in necrotizing enterocolitis (NP 1). Because only bethamethasone has proved its efficiency in the reduction of neonatal mortality (NP 2) and antenatal exposition to betamethasone is associated with a decrease in the risk of periventricular leukomalacia in children born prematurely (NP 3) it seems preferable to use betamethasone rather than dexamethasone. Antenatal administration of repeated courses compared with single course of steroids improves fetal lung function with a decrease of RDS notably if the children is born before 28 weeks of gestation (NP 2) but numerous animal studies reported adverse effects of repeated courses. Several studies in women having received of repeated courses steroids report a decrease in birth weight and head circumference at birth but with a 3 years follow up similar to that of children exposed to a single course (NP 3). In conclusion the benefit of a single course of steroids is indisputable for the prevention of the prematurity-related complications but there is today a strong concern about the benefit/risk ratio in relation to the prescription of repeated courses of steroids.

Betamethasone↗
PubMed2002

[Update on prenatal diagnosis of osteogenesis imperfecta type II : an index case report diagnosed by ultrasonography in the first trimester].

INTRODUCTION: A case of osteogenesis imperfecta type II diagnosed in the first trimester of pregnancy. DISCUSSION: Lethal osteogenesis imperfecta is a disorder characterized by collagen abnormalities resulting in dwarfism, bone fragility and deformity leading to death in utero or in the perinatal period. Molecular and biochemical studies demonstrate that OI type II results from mutations in either COL1 A1 or COL1 A2 which encode for the chains of type I procollagen. Early diagnosis by US examination in first trimester relies on shortening and bowing of long bones, multiple fractures and hypoechogenicity of the skeleton. When ultrasound examination suspects OI type II, the diagnosis can be accomplished in the first trimester by biochemical analysis if the collagen defect is characterized. CONCLUSION: OI type II results mainly from private mutations and parental mosaicism is an important cause of recurrence making genetic counselling difficult.

Abortion, Therapeutic↗
PubMed2001

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.

Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation. X-linked hydrocephalus is known to be due to mutations in the gene coding for the neural cell adhesion molecule L1 (L1-CAM) and diagnosis is made by identification of a mutation in the L1-CAM gene. Prenatal diagnosis of HSAS is usually suggested on ultrasound examination showing hydrocephalus in a male fetus associated with bilateral adducted thumbs. Mutation screening of the L1-CAM gene is indicated when neuropathological examination shows hypoplasia of the corticospinal tract associated with aqueductal stenosis. We report here two cases of HSAS diagnosed within the same family by ultrasound examination in the first trimester of pregnancy when bilateral adducted thumbs were the only early ultrasound marker.

Adult↗
PubMed2001

Balloon replacement of fetal membranes to facilitate emergency cervical cerclage.

BACKGROUND: Emergency cerclage can be used in cases of cervical incompetence, even when fetal membranes bulge through the dilated cervix. To facilitate the procedure we used a balloon device to replace the fetal membranes. TECHNIQUE: With the patient in a steep Trendelenburg position, after epidural anesthesia, the fetal membranes were replaced into the uterine cavity with an inflated balloon of the type used for endoscopic preperitoneal dissection. Cervical cerclage was done by the McDonald technique. EXPERIENCE: We have done 25 emergency cerclages with this technique. The following maternal and perinatal outcomes were assessed retrospectively: age, medical history, gestational age at inclusion and delivery, cervical dilatation at admission, preterm rupture of membranes, clinical or histologic chorioamnionitis, birth weight, admission to the neonatal intensive care unit, neonatal death, and postnatal course. CONCLUSION: Replacing prolapsed fetal membranes with an inflated balloon is a convenient technique that allows gestation to be prolonged for an average of 31 days. Cerclage was feasible when the cervix was widely dilated (more than 4 cm); it was associated with prolongation of gestation by a median of 9 days.

Emergencies↗
PubMed2001

Monitoring of fetuses with intrauterine growth restriction: a longitudinal study.

OBJECTIVE: To describe the time sequence of changes in fetal monitoring variables in intrauterine growth restriction and to correlate these findings with fetal outcome at delivery. METHODS: This was a prospective longitudinal observational multicenter study on 110 singleton pregnancies with growth-restricted fetuses after 24 weeks of gestation. Short-term variation of fetal heart rate, pulsatility indices of fetal arterial and venous Doppler waveforms and amniotic fluid index were assessed at each monitoring session. The study population was divided into two groups: Group 1 comprised pregnancies with severely premature fetuses, which were delivered < or =32 weeks and Group 2 included pregnancies delivered after 32 completed weeks. Logistic regression was used for modeling the probability for abnormality of a variable in relation to the time interval before delivery. Trends over time were analyzed for all variables by multilevel analysis. RESULTS: Ninety-three (60 in Group 1 and 33 in Group 2) fetuses had at least three data sets (median, 4; range, 3-27) and had the last measurements taken within 24 h of delivery or intrauterine death. The percentage of abnormal test results and the degree of abnormality were higher in Group 1 compared to Group 2. Amniotic fluid index and umbilical artery pulsatility index were the first variables to become abnormal, followed by the middle cerebral artery, aorta, short-term variation, ductus venosus and inferior vena cava. In Group 1, short-term variation and ductus venosus pulsatility index showed mirror images of each other in their trend over time. Perinatal mortality was significantly higher if both variables were abnormal compared to only one or neither being abnormal (13/33 (39%) vs. 4/60 (7%); P = 0.0002; Fisher's exact test). CONCLUSION: Ductus venosus pulsatility index and short-term variation of fetal heart rate are important indicators for the optimal timing of delivery before 32 weeks of gestation. Delivery should be considered if one of these parameters becomes persistently abnormal.

Case-Control Studies↗