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A Benachi

Publications and source records attributed to A Benachi.

At least 19 recordsLinked to original sources
PubMed2006

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.

INTRODUCTION: Myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) syndrome, a maternally inherited disorder that is among the most common mitochondrial DNA (mtDNA) diseases, is usually associated with the m.3242A>G mutation of the mitochondrial tRNA(leu) gene. Very few data are available with respect to prenatal diagnosis of this serious disease. The rate of mutant versus wild-type mtDNA (heteroplasmy) in fetal DNA is indeed considered to be a poor indicator of postnatal outcome. MATERIALS AND METHODS: Taking advantage of a novel semi-quantitative polymerase chain reaction test for m.3243A>G mutant load assessment, we carried out nine prenatal diagnoses in five unrelated women, using two different fetal tissues (chorionic villi v amniocytes) sampled at two or three different stages of pregnancy. RESULTS: Two of the five women, although not carrying m.3243A>G in blood or extra-blood tissues, were, however, considered at risk for transmission of the mutation, as they were closely related to MELAS-affected individuals. The absence of 3243A>G in the blood of first degree relatives was associated with no mutated mtDNA in the cardiovascular system (CVS) or amniocytes, and their three children are healthy, with a follow-up of 3 months-3 years. Among the six fetuses from the three carrier women, three were shown to be homoplasmic (0% mutant load), the remaining three being heteroplasmic, with a mutant load ranging from 23% to 63%. The fetal mutant load was fairly stable at two or three different stages of pregnancy in CVS and amniocytes. Although pregnancy was terminated in the case of the fetus with a 63% mutant load, all other children are healthy with a follow-up of 3 months-6 years. CONCLUSION: These data suggest that a prenatal diagnosis for MELAS syndrome might be helpful for at-risk families.

Acidosis, Lactic↗
PubMed2006

Prenatal prediction of survival in isolated left-sided diaphragmatic hernia.

OBJECTIVE: To investigate the potential value of antenatally determined intrathoracic herniation of the liver and the ratio of fetal lung area to head circumference (LHR) in the prediction of postnatal survival in isolated, left-sided congenital diaphragmatic hernia (CDH). METHODS: In this multicenter study, we searched the antenatal-CDH-Registry for fetuses with isolated left-sided CDH that were liveborn after 30 weeks of gestation and were followed up postnatally for at least 3 months after discharge from hospital. The patients were subdivided into those with and those without intrathoracic herniation of the liver and into subgroups according to the LHR that had been measured between 22 + 0 and 28 + 0 weeks of gestation. The rate of survival in each group and subgroup of patients was determined and compared. RESULTS: The registry search identified 184 patients that fulfilled the entry criteria. Logistic regression analysis demonstrated that significant predictors of survival were the presence or absence of intrathoracic herniation of the liver and the LHR. In 86 cases there was liver herniation (Group A) and in 98 the liver was confined to the abdomen (Group B). In Group A, the survival rate was 50.0% and was significantly associated with LHR; in Group B the survival rate was 76.5% and was unrelated to LHR. CONCLUSION: In isolated, left-sided CDH, the postnatal mortality rate is substantially higher if there is intrathoracic herniation of the liver. In fetuses with liver herniation, measurement of LHR at 22-28 weeks of gestation is useful in the prediction of subsequent survival.

Female↗
PubMed2006

Rendering in fetal cardiac scanning: the intracardiac septa and the coronal atrioventricular valve planes.

OBJECTIVE: In this study we aimed to apply spatio-temporal image correlation (STIC) rendering to visualize the virtual planes of the interventricular and interatrial septa (IVS, IAS) as well as the atrioventricular (AV) annuli plane just distal to the semilunar valves (coronal atrioventricular (CAV) plane) in normal and pathological fetal hearts, to ascertain whether these planes add to fetal cardiac examination. METHODS: Unselected gravidae presenting for anatomy scan or patients referred for fetal echocardiography in the second and third trimesters of pregnancy with suspected or diagnosed cardiac malformation were scanned using the five planes technique with the STIC modality to obtain cardiac volume sets for each patient. Rendering capabilities were employed to obtain the 'virtual planes' to evaluate the IVS, IAS, AV annuli, and size and alignment of the great vessels. RESULTS: A total of 136 normal scans were performed to establish a learning curve for STIC acquisition and post-processing rendering and analysis. An additional 35 cases with cardiac anomalies were accrued. In 131/136 (96.3%) normal scans the IAS and IVS were visualized successfully, while in 127/136 (93.4%) normal fetuses the CAV plane was successfully visualized. In 13 anomalous cases the IVS plane improved ventricular septal defect (VSD) evaluation, and in four the IAS plane contributed to foramen ovale evaluation. The modality improved visualization of the septa and the assessment of the defects, as well as the foramen ovale flap and pattern of movement of the foramen ovale. In five cases the CAV plane improved evaluation of the alignment of the major vessels in relation to the AV annuli, and in three the evaluation of the semilunar valves, with or without malalignment of the great vessels. CONCLUSIONS: Rendering STIC technology allows the visualization of virtual planes (IAS, IVS, AV annuli-CAV plane), which can clarify our understanding of anatomical defects and may improve communication with the management team and family.

Adult↗
PubMed2006

Predicting pulmonary hypoplasia using the sonographic fetal lung volume to body weight ratio--how precise and accurate is it?

OBJECTIVES: To determine the precision and accuracy of ultrasound in estimating the fetal lung to body weight ratio (FLB ratio) using two-dimensional (2D) and three-dimensional (3D) ultrasound by comparison with postmortem measurements, and to evaluate its potential to diagnose pulmonary hypoplasia. METHODS: Lung volumes were estimated by 3D ultrasound (rotational technique) and fetal weights were measured by 2D ultrasound (Hadlock equation) in 35 fetuses immediately before termination of pregnancy at 15-38 weeks. Sonographic estimates of FLB ratio were compared with postmortem values. Based on the pathological definition of pulmonary hypoplasia, the accuracy of sonographic estimation of the FLB ratio was analyzed. RESULTS: The mean gestational age at termination of pregnancy was 26.7 (range, 15-38) weeks. The mean FLB ratios were 0.018 (SD, 0.006) on ultrasound and 0.019 (SD, 0.007) at autopsy (P = 0.730). Bias and precision of sonographic FLB ratio were - 0.001 and 0.003 (absolute limits, - 0.007 to + 0.006), respectively. Pulmonary hypoplasia was diagnosed in 12 (34.3%) cases at autopsy. The sonographic FLB ratio was significantly lower in fetuses with pulmonary hypoplasia at autopsy (median, 0.011; range, 0.004-0.014) than it was in those without pulmonary hypoplasia (median, 0.022; range, 0.013-0.045, P < 0.001). The sensitivity and specificity of the sonographic FLB ratio for diagnosing pulmonary hypoplasia were 91.7% (11/12) and 91.3% (21/23), respectively, the positive and negative predictive values were 84.6% (11/13) and 95.5% (21/22), and the accuracy was 91.4% (32/35). CONCLUSION: FLB ratio can be estimated precisely on ultrasound examination, albeit with wide limits of agreement. The sonographically estimated FLB ratio may be useful in the prediction and diagnosis of pulmonary hypoplasia.

Abnormalities, Multiple↗
PubMed2006

[Emergency thoraco amniotic shunting in cases with compressive pleural effusion with hydrops: A retrospective study of 60 cases].

OBJECTIVES: To study perinatal outcome following thoraco-amniotic shunting for fetal pleural effusions with hydrops. MATERIALS AND METHODS: Retrospective study (1984-2004) to evaluate a policy of emergency thracoamniotic shunting in hydropic fetuses with suspected chylothorax, on the basis of the rationale that mediastinal compression could lead to acute fetal distress. RESULTS: Shunting was performed immediately following diagnosis, and was successful in all 60 cases attempted. There were 7 pregnancy terminations, 10 in utero deaths, and 43 live births, of which 7 children died in the neonatal period and 36 survived (33 without sequels). Among the liveborn, 26 were delivered preterm (72%), of which 7 (19%) had preterm premature rupture of membranes and 4 (11%) had chorioamnionitis. Perinatal death (24/60, 40%) was related to underlying anomalies (7 cases), pulmonary hypoplasia (5 cases), chorioamnionitis (2 cases), or treatment failure for unknown reasons (10 cases). All 36 survivors had chylothorax, 33 of which were primary, and 3 were secondary to right congenital diaphragmatic hernia, pulmonary sequestration, or Noonan syndrome. CONCLUSION: Following shunting, pleural effusion with hydrops has survival rate >50%, but still have a high rate of morbidity and mortality.

Amniotic Fluid↗
PubMed2006

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

Zellweger syndrome (ZS), or cerebrohepatorenal syndrome, was the first described peroxisomal biogenesis disorder. It represents the most severe phenotype, and some of its multiple congenital anomalies can manifest prenatally. Fetal hypokinesia, renal hyperechogenicity, and cerebral ventricular enlargement are the most common reported fetal features. Single and/or late detectable manifestations account for most of the difficulties of prenatal diagnosis, as well as the limitations of ultrasonography itself. Prenatal diagnosis, however, can be achieved through (1) assays of concentrations of peroxisomal metabolites (very-long-chain fatty acids, bile acids, intermediates, plasmalogens), (2) activities of peroxisomal enzymes (dihydroacetone-phosphate acyltransferase), or (3) molecular screening techniques, if available. We report on the contribution of MR imaging to the diagnosis of ZS in 2 unrelated fetuses. MR imaging was performed in the third trimester because of cerebral ventricular enlargement diagnosed on routine sonography examinations. In both cases, MR imaging revealed ZS-characteristic abnormal cortical gyral patterns, impaired myelination, and cerebral periventricular pseudocysts. In addition, MR imaging revealed renal microcysts and hepatosplenomegaly in one case. The high level of resolution of MR imaging, which allows analysis of cerebral gyration and myelination, facilitates the prenatal diagnosis of complex polymalformative syndromes such as ZS.

Abortion, Eugenic↗
PubMed2005

Prenatal diagnosis of pulmonary sequestration using three-dimensional power Doppler ultrasound.

OBJECTIVE: To investigate the contribution of three-dimensional power Doppler ultrasound to the prenatal diagnosis of pulmonary sequestration. METHODS: Prenatal three-dimensional power Doppler ultrasound was used to screen for an abnormal pulmonary blood supply in eight fetuses with hyperechogenic lung lesions and to image the pulmonary blood supply in 50 normal controls. A comparison was made with postnatal findings. RESULTS: Postnatally the eight pulmonary lesions were found to be an isolated pulmonary sequestration (n = 3), a microcystic congenital adenomatoid malformation (n = 4), and a mixed (macrocystic and microcystic) congenital adenomatoid malformation (n = 1). Prenatal three-dimensional power Doppler ultrasound demonstrated an abnormal blood supply in all cases of pulmonary sequestration and in none of the other cases. Among the three cases that turned out to be pulmonary sequestrations, conventional two-dimensional ultrasound failed to identify the feeding vessel in one case and identified it at a later stage of gestation than did three-dimensional power Doppler in the other two. CONCLUSION: Prenatal three-dimensional power Doppler ultrasound may be useful in identifying the feeding vessel and thus establishing the diagnosis of pulmonary sequestration in the presence of a hyperechogenic pulmonary lesion, allowing its differentiation from congenital cystic adenomatoid malformation.

Adolescent↗
PubMed2005

Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy.

OBJECTIVE: The prognosis of fetal lower urinary tract obstruction (LUTO) depends upon renal function and also upon the underlying etiology. Precise identification of the latter remains a challenge antenatally. Our objective was to examine the underlying pathology in male fetuses with sonographic evidence of severe and isolated LUTO. METHODS: Detailed postmortem examination was carried out after termination of pregnancy in 24 male fetuses presenting before 25 weeks of gestation with ultrasound evidence of isolated severe LUTO. RESULTS: All fetuses had megacystis and hyperechogenic kidneys. There was anhydramnios/oligohydramnios and pelvicalyceal dilatation in 20 and 15 cases, respectively. Posterior urethral valves (PUV) were suspected antenatally in 20 cases and urethral atresia was not suspected antenatally. However, postmortem examination of the urethra demonstrated atresia in six cases, severe stenosis in eight cases, PUV in nine cases and an apparently normal urethra in one case. Renal dysplasia was found in all cases but one. Urethral atresia was the most common urethral anomaly at 12-17 weeks. Hydronephrosis was more frequent in cases with PUV (8/9) and urethral stenosis (6/8) than with urethral atresia (0/6). In LUTO presenting in the first and second trimester, hyperechogenic kidneys were predictive of renal dysplasia in 95% of cases. The association of a sagittal diameter of the bladder of at least 40 mm with hydronephrosis before 28 weeks was predictive of PUV with a positive (PPV) and negative (NPV) predictive value of 44.4% and 66.6%, respectively. Absence of hydronephrosis and a sagittal diameter of the bladder of less than 40 mm were predictive of urethral atresia or stenosis with a PPV and NPV of 100% and 47.6%, respectively. The absence of hydronephrosis was predictive of urethral atresia with a PPV and NPV of 66.6% and 100%, respectively. CONCLUSION: LUTO in a male fetus presenting with megacystis in the first or second trimester of pregnancy is as likely to reflect urethral atresia or stenosis as it is PUV. The size of the bladder and the presence of hydronephrosis should be considered in order to improve prenatal diagnosis and counseling.

Abortion, Therapeutic↗
PubMed2005

Accuracy of fetal lung volume assessed by three-dimensional sonography.

OBJECTIVE: To determine the accuracy and precision of prenatal three-dimensional (3D) ultrasound in estimating fetal lung volume using the rotational multiplanar technique (VOCAL) by comparing it to postmortem volume measurements. METHODS: Fetal lung volume was measured during 3D ultrasound examination using a rotational multiplanar technique in eight cases of congenital diaphragmatic hernia (CDH) (six left and two right-sided) and in 25 controls without pulmonary malformation, immediately before termination. Prenatal 3D sonographic estimates of fetal lung volume were compared with postmortem measurement of fetal lung volume achieved by water displacement. RESULTS: The intraclass correlation coefficient of fetal lung volume estimated by 3D ultrasound and measured at postmortem examination was 0.95 in CDH cases and 0.99 in controls. Based on Bland-Altman analysis, the bias, precision and limits of agreement were, respectively, 0.35 cm(3), 1.46 cm(3) and between -2.51 and + 3.21 cm(3) in cases with CDH and 0.08 cm(3), 2.80 cm(3) and between -5.41 and + 5.57 cm(3) in controls. The mean relative error of 3D ultrasound fetal lung volume measurement was -7.19% (from -42.70% to + 18.11%) in CDH cases and -0.72% (from -30.25% to + 19.22%) in controls, while the mean absolute error of 3D ultrasound fetal lung volume measurement was 1.40 (range, 0.71-2.52) cm(3) and 2.12 (range, 0.05-4.98) cm(3), respectively. Accuracy of 3D ultrasound for measuring fetal lung volumes was 84.86 (range, 57.30-99.48)% in cases with CDH and 91.38 (range, 69.75-99.45)% in controls. The mean intraobserver variability for lung volume estimated by 3D ultrasound was 0.28 cm(3) in controls and 0.17 cm(3) in CDH cases. CONCLUSION: Prenatal 3D ultrasound can estimate accurately fetal lung volume using the rotational multiplanar technique for volume measurements (VOCAL), even in fetuses with very small lungs, such as cases with isolated CDH.

Abortion, Legal↗
PubMed2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Spinal muscular atrophy (SMA) has a prevalence of one in 6000 births and a one in 40 heterozygote frequency. We aimed to develop a routine test for non-invasive prenatal diagnosis. We tested blood with ISET (isolation by size of epithelial tumour or trophoblastic cells) in 12 pregnant women whose babies were at risk of SMA. Using genetic analysis of fetal cells, we identified SMA in all nine isolated from the three mothers carrying an affected child. There was no mutation in any of the 26 fetal cells isolated from the nine women with an unaffected child. Our results show that non-invasive detection of genetic diseases by the analysis of maternal blood is feasible.

Female↗
PubMed2003

Pericardial teratoma complicated by hydrops: successful fetal therapy by thoracoamniotic shunting.

Pericardial teratoma is a potentially curable lesion that may become life threatening when it induces mediastinal compression and fetal hydrops. So far, cases with fetal hydrops have been managed by elective delivery or pericardial needle decompression. We report a case in which pericardial teratoma resulted in fetal hydrops. Following transpleural needling of the fetal pericardium at 29 weeks and 6 days, pericardial effusion decreased but hydrops persisted, while major unilateral pleural effusion appeared. A thoracoamniotic shunt was placed at 30 weeks and 5 days. Hydrops resolved, although incompletely. The baby was delivered at 32 weeks and was operated upon on day 3. This observation suggests that fetal hydrops associated with pericardial teratoma may improve following thoracoamniotic shunting. Fetal therapy may limit the risks of respiratory distress arising from the combined effect of airways compression and lung immaturity.

Adult↗
PubMed2003

[CMV infection: when should medical termination of pregnancy be discussed?].

OBJECTIVES: To determine in which circumstances termination of pregnancy (TOP) could be proposed in case of CMV infection. PATIENTS AND METHODS: An inquiry was conducted concerning the practice of doctors working in French foetal medicine units in case of CMV infection. The question asked was: "What is your attitude if confronted to a CMV seroconversion at 23 weeks of amenorrhoea with positive PCR at 28 WA, and normal MRI and ultrasound scan at third trimester?" RESULTS: Thirty-five obstetricians answered. Forty-nine percent do not perform foetal blood sampling (FBS). Among them 1/17 would accept TOP. Fifty-one percent do perform FBS. In this group, 33% would accept TOP in case of negative FBS and 83% if FBS shows foetal infection. DISCUSSION AND CONCLUSION: Techniques available for diagnosis and prognosis of foetal infections are based on PCR on amniotic fluid, ultrasound, MRI and FBS. To date correlation of those tests with foetal outcome has not been fully validated. TOP could therefore be an option in 2 circumstances: when signs of certain severe foetal disease with positive PCR and ultrasound abnormalities; on statistical arguments: if positive PCR, and normal ultrasound, the risk of handicap is approximately 10%, the severity of the handicap being impossible to predict. In this last hypothesis, it is tempting to use additional arguments such as FBS even if the interpretation of the results of this test has not been scientifically validated. Such cases with positive PCR and normal ultrasound in which inconsistent decisions are made are likely to be more frequent because of routine serologic screening policy.

Abortion, Induced↗
PubMed2003

Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique.

BACKGROUND: Fetal DNA circulating in maternal serum offers a possibility for non-invasive prenatal diagnosis but its kinetics during very early pregnancy is still unclear. In order to clarify this point, the studies on the kinetics of fetal DNA appearance in maternal serum were conducted on patients undergoing assisted reproduction. METHODS: Using a quantitative real time PCR assay, the presence of SRY gene sequences was evaluated in the serum of patients at the onset of pregnancy. RESULTS: Twenty-seven patients were originally studied but first trimester abortion occurred in five cases. Among the 22 ongoing pregnancies, ten were found to bear at least one male fetus and all sera from these women gave positive results for SRY gene detection. The SRY gene was found to be detectable as soon as day 18 after embryo transfer in one case and it had been found in the other nine patients by day 37. CONCLUSIONS: Fetal DNA is found in maternal serum even before the fetal circulation is established, which is highly suggestive that it is released, at least in part, from the trophoblast. Detection of fetal DNA in maternal serum very early in pregnancy may have clinical implications such as with the management of pregnant women carrying a fetus at risk for congenital adrenal hyperplasia.

DNA↗
PubMed2003

[CT pelvimetry: a new approach using multi detector CT and volume rendering].

The authors describe a new technique of CT pelvimetry, using multi detector CT. This protocol is able to provide an anatomic view of the bony pelvis as well as classical measurements for pelvimetry. The acquisition is made using low technical parameters allowing the radiation dose to remain similar to that of conventional CT. Helical acquisition with thin slices and interleaved reconstruction provides adequate material for Volume Rendering reconstruction. Presets of the software may give readily available images within seconds, saving time for the radiologist. Although this technique might be performed using single slice helical CT, multi detector CT makes it faster and more accurate as the acquisition time is shorter. Final images are more easily understood by obstetricians and midwives, leading to a better understanding of dystocias. This anatomical information is obviously superior to that of conventional CT. Because it is simple to perform, has no medical time cost for the radiologist if a Volume Rendering software is available, and does not require additional radiation, we believe that this technique should replace conventional CT or conventional pelvimetry.

Female↗