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Alexandra Benachi

Publications and source records attributed to Alexandra Benachi.

At least 19 recordsLinked to original sources
PubMed2006

Quantitative analysis of fetal pulmonary vasculature by 3-dimensional power Doppler ultrasonography in isolated congenital diaphragmatic hernia.

OBJECTIVE: The purpose of this study was to evaluate the potential of 3-dimensional (3D) power Doppler imaging to predict neonatal outcome and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH). STUDY DESIGN: In this prospective observational study, 3D-power Doppler ultrasonography was performed in 21 cases with isolated CDH between 23 and 33 weeks of gestation and in 58 controls between 20 and 40 weeks. Using the same preestablished settings for all cases, power Doppler was applied to each lung, and fetal lung volumes (FLV) were estimated using the rotational technique. The 3D power Doppler histogram was used to determine the vascular indices, which were plotted against gestational age and compared with neonatal outcome, PAH, gestational age, and FLV. RESULTS: Fetal pulmonary vascular indices showed a constant distribution throughout gestation, being significantly lower in cases with CDH than in controls (P < .001). Among CDH cases, the vascular indices were significantly lower in fetuses who died (P < .05), and in fetuses with neonatal PAH (P < .05). The severity of neonatal PAH was also associated with a progressive reduction in prenatal vascular indices (P < .05). All vascular indices correlated with o/e-FLV, but not with gestational age. CONCLUSION: All vascular indices seem to be constant throughout gestation. In isolated CDH, perinatal outcome and postnatal PAH can be predicted using the vascular indices assessed by 3D power Doppler histogram.

Blood Vessels↗
PubMed2006

Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis.

OBJECTIVES: Cystic fibrosis (CF) is an autosomal recessive disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The purpose of this study was to develop a molecular method to characterise both paternal and maternal CFTR alleles in DNA from circulating fetal cells (CFCs) isolated by ISET (isolation by size of epithelial tumour/trophoblastic cells). METHODS: The molecular protocol was defined by developing the F508del mutation analysis and addressing it both to single trophoblastic cells, isolated by ISET and identified by short tandem repeats (STR) genotyping, and to pooled trophoblastic genomes, thus avoiding the risk of allele drop out (ADO). This protocol was validated in 100 leucocytes from F508del carriers and subsequently blindly applied to the blood (5 mL) of 12 pregnant women, at 11 to 13 weeks of gestation, whose offspring had a 1/4 risk of CF. Ten couples were carriers of F508del mutation, while two were carriers of unknown CFTR mutations. RESULTS: Results showed that one fetus was affected, seven were heterozygous carriers of a CFTR mutation, and four were healthy homozygotes. These findings were consistent with those obtained by chorionic villus sampling (CVS). CONCLUSION: Our data show that the ISET-CF approach affords reliable prenatal diagnosis (PND) of cystic fibrosis and is potentially applicable to pregnant women at risk of having an affected child, thus avoiding the risk of iatrogenic miscarriage.

Alleles↗
PubMed2006

Prenatally diagnosed sacrococcygeal teratoma: a prognostic classification.

PURPOSE: The objective of this study is to describe a prognostic classification for prenatally diagnosed sacrococcygeal teratoma (SCT). METHODS: Charts from 44 fetuses were reviewed. Three groups were defined as follows: group A--tumor diameter less than 10 cm, absent or mild vascularity and slow growth; group B--diameter 10 cm or greater, pronounced vascularity or high-output cardiac failure and fast growth; group C--diameter 10 cm or greater, predominantly cystic lesion with absent or mild vascularity and slow growth. RESULTS: Size at diagnosis, growth rate, and vascularity were higher in group B. Gestational age at delivery was lower in group B. Eleven of 21 died in the perinatal period in group B and none in groups A and C. In group C, drainage or shunting of the SCT has been performed in 6 of 10 cases. CONCLUSIONS: Group A is associated to good maternal and perinatal outcome, as well as group C, although shunting or drainage of the SCT could be necessary. Large fast-growing SCT with rich vascularity is associated with a higher perinatal mortality and morbidity than smaller lesions with mild vascularity.

Female↗
PubMed2006

Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis.

Congenital diaphragmatic hernia (CDH) is a frequently occurring, major congenital abnormality that has high mortality and significant morbidity in survivors. Currently, the pathogenesis of CDH is poorly understood. In this study, we have compared the anatomical characteristics of diaphragm defects in the well-described nitrofen model with the pathogenesis of CDH in vitamin A-deficient rats and wt1 null-mutant mice, representing teratogen-induced, dietary and genetic models of CDH, respectively. Our histological investigations, aided by three-dimensional reconstruction of the developing diaphragm, revealed a common pathogenic mechanism with regards to the location of the diaphragm defect in the foramen of Bochdalek (posterolateral diaphragm) and specific abnormalities within the primordial diaphragm. Furthermore, our analysis of postmortem specimens highlighted similarities in human cases of CDH and these animal models, supporting our hypothesis that CDH in humans arises from a defect in the primordial diaphragm. Immunohistochemical data were consistent with the defect in the primordial diaphragm being in the nonmuscular component. Importantly, these data show that very distinct models of CDH all share a common pathogenic mechanism and, together with supporting evidence from pathological specimens, highlight our proposed pathogenic model for CDH.

Animals↗
PubMed2006

A nomogram of fetal lung volumes estimated by 3-dimensional ultrasonography using the rotational technique (virtual organ computer-aided analysis).

OBJECTIVE: The purpose of this study was to build a nomogram of normal fetal lung volumes throughout gestational age estimated by 3-dimensional ultrasonography using the rotational technique (Virtual Organ Computer-Aided Analysis [VOCAL]; GE Healthcare, Kretztechnik, Zipf, Austria). METHODS: Fetal lung volume was assessed in 146 healthy fetuses by 3-dimensional ultrasonography using the technique of rotation of the multiplanar imaging (VOCAL). Inclusion criteria were healthy women with singleton normal pregnancies, normal fetal morphologic ultrasonographic findings, reliable dating established by dates and by ultrasonographic measurement of the crown-lump length in the first trimester, and gestational age from 20 to 37 weeks. Exclusion criteria were discordance between clinical and ultrasonographic dating, patients lost to follow-up, and birth weight disorders. Each patient was scanned once during pregnancy. RESULTS: The right, left, and total mean pulmonary volumes ranged, respectively, from 5.37, 4.66, and 9.95 cm3 at 20 weeks to 46.06, 37.34, and 84.35 cm3 at 37 weeks. The logistic transformation analysis yielded the following formulas: right lung volume = exp(4.07/[1 + exp(21.90 - gestational age/5.44)]); left lung volume = exp(3.82/(1 + exp[22.03 - gestational age/5.17)]); and, total lung volume = exp(4.72/[1 + exp(20.30 - gestational age/6.05)]). CONCLUSIONS: A new nomogram of fetal lung (right, left, and total) volumes throughout gestational age using the rotational technique (VOCAL) is described, and reference values have been generated.

Diagnosis, Computer-Assisted↗
PubMed2005

Fetal RhD genotyping by maternal serum analysis: a two-year experience.

OBJECTIVE: The purpose of this study was to determine the accuracy of the none-invasive prenatal determination of polymerase chain reaction (PCR)-based fetal RhD genotyping. STUDY DESIGN: A prospective case series was undertaken on all RhD-negative pregnant women presenting for genetic counseling in our prenatal diagnosis center from January 2001 until December 2002. Results were compared with serologic RhD typing of the newborns. RESULTS: Among the 285 pregnant women who participated in the study, fetal RhD status could be determined for 283 patients. In 2 cases, the RhD-negative phenotype of the mother was not the result of a complete RHD gene deletion, and therefore, the status of the fetus could not be determined. Neither false-negative nor false-positive results were observed. CONCLUSION: The present report demonstrates that a reliable fetal RHD genotype determination can be achieved with 100% accuracy. It is therefore possible to consider that such an assay could be systematically proposed to all RhD-negative pregnant women in order to more effectively utilize RhD prophylaxis.

Blood Grouping and Crossmatching↗
PubMed2005

The impact of 3-dimensional ultrasonography on perinatal management of a large epignathus teratoma without ex utero intrapartum treatment.

We report a case of epignathus teratoma diagnosed at 22 weeks of gestation in which 3-dimensional ultrasound (3DUS) was useful to plan perinatal management. A significant enlargement of the tumor, associated with polyhydramnios and preterm labor, was observed at 35 weeks of gestation. After amniotic fluid evacuation, 3DUS was performed in the presence of pediatricians, obstetricians, and otolaryngologists. Three-dimensional ultrasound revealed that great part of the tumor was located outside the fetal mouth and anterior to fetal mandible, suggesting that the newborn could breathe spontaneously by nasal via. A cesarean section with longitudinal hysterotomy was performed at 36 weeks followed by an immediate extirpation of the tumor and the intubation of the newborn. The management of this rare case illustrates that the ex utero intrapartum treatment (EXIT) procedure is not always necessary in this situation. Besides, the actual prenatal goal consists on carefully selecting fetuses with epignathus teratoma that will need the EXIT procedure from those that will not. Three-dimensional ultrasound and magnetic resonance imaging in association with 2DUS can be helpful in this prenatal selection.

Adult↗
PubMed2004

Surfactant phospholipids and proteins are increased in fetal sheep with pulmonary hypertension secondary to fetal systemic arteriovenous fistula.

To determine whether prenatal surfactant storage was altered in a model of systemic arteriovenous fistula (SAVF) with pulmonary hypertension, a fistula was created between the internal jugular vein and the carotid artery in 120-day fetal lambs, and surfactant material was explored at 134 days. Total phospholipids (TPL) and disaturated phosphatidylcholine (DSPC) were increased in whole lung tissue. Phospholipid analysis of isolated lamellar body fraction evidenced a specific increase of surfactant pool size: TPL and DSPC in this fraction were enhanced 1.9 and 2.9 times, respectively, when referred to DNA. Although the steady-state level of transcripts of surfactant protein (SP)-A and SP-B was not found to be changed at the time of death, semiquantitative Western blot analysis revealed elevated SP-A and SP-B protein contents three- and twofold, respectively. These findings indicate markedly enhanced accumulation of surfactant material in the presence of surgically induced prenatal pulmonary hypertension. Although total lung cell number was increased by 26%, SP-B immunolabeling indicated that increased surfactant amount did not result from an increased alveolar type II cell proportion, but rather from an increased rate of storage. Whether similar changes in surfactant are encountered in human neonates with persistent pulmonary hypertension is worthy of investigation.

Animals↗
PubMed2004

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.

Smith-Lemli-Opitz (SLO) syndrome or RSH syndrome is an autosomal recessive multiple malformation, and mental retardation syndrome ascribed to 7-dehydrocholesterol reductase deficiency, and usually diagnosed in the early postnatal period. Reviewing a series of 30 cases of SLO, we have investigated the variable antenatal expression of the disorder. Intrauterine growth retardation (IUGR) was the most frequent detectable trait (20/30). IUGR was either isolated (9/20) or associated with at least one other anomaly (11/20), including nuchal edema, renal, cardiac, cerebral malformations, genital anomalies, or polydactyly. In this last group, 3/11 presented with multiple malformations (> or =3 anomalies). In 5/30 cases, isolated nuchal edema (3/30), and isolated cardiac (1/30) or renal malformations (1/30) were the only detectable anomalies. Ultrasound findings were considered normal in 5/30 cases and were abnormal in 25/30 cases (83%), but early detection of multiple malformations was rare (3/30, 10%). We suggest giving consideration to a more systematic sterol analysis when dealing with IUGR, especially when associated anomalies are detected.

Female↗
PubMed2004

Prenatal sonographic diagnosis of congenital hiatal hernia.

OBJECTIVES: To report a rare case of congenital hiatal hernia illustrating the importance of its prenatal diagnosis as well as to discuss the prenatal sonographic criteria. CASE REPORT: A case of congenital hiatal hernia was diagnosed by ultrasound at 33 weeks of gestation. After a normal second-trimester morphologic ultrasound examination, a hypoechogenic mass was detected in the posterior mediastinum juxtaposed to the vertebral body and seemed to be in continuity with the intra-abdominal stomach bubble. Congenital hiatal hernia was suspected mainly because of the dynamic position of the stomach during the examination, without mediastinal shift, and normal appearance of the diaphragm on parasagittal sections of the thorax. Postnatal management was planned with no urgency and surgery was successfully performed, confirming the diagnosis. CONCLUSION: This rare case illustrates the importance of prenatal diagnosis of congenital hiatal hernia for prenatal counseling and postnatal management. The ultrasound criterion for prenatal diagnosis is the presence of a herniated stomach in the posterior mediastinum, sometimes having a dynamic position during examination, with no mediastinal shift associated with normal diaphragm appearance on parasagittal sections of the thorax.

Adult↗
PubMed2004

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.

OBJECTIVES: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large-scale deletion encompassing exons 4 to 10 of the NEMO gene. The aim of this work was to facilitate prenatal diagnosis of IP by devising a novel test for detection of the prevalent NEMO deletion. METHODS: We devised a sensitive and reproducible multiplex PCR test enabling simultaneous amplification of the deleted and wild-type NEMO genes in IP female individuals. RESULTS: Combination of this DNA test, with Xq28 linkage analysis and X-inactivation pattern study enabled us to offer an IP prenatal diagnosis in 15 of the 16 couples at a 50% risk to have an affected offspring. CONCLUSION: A current approach to IP prenatal diagnosis is proposed on the basis of the previously mentioned molecular tools.

DNA Mutational Analysis↗
PubMed2004

Sonography in prenatal diagnosis of congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21-hydroxylase deficiency. In its classical form, CAH is severe and consists of the virilizing (increase of androgens) and salt-wasting (lack of aldosterone) phenotype. When a proband exists, early prenatal diagnosis for CAH can be performed by direct molecular analysis in the first trimester. We describe herein two cases suggesting that the prenatal diagnosis of CAH can be initiated by the sonographic appearance of the adrenal gland at the second-trimester scan in the absence of a family history.

Adrenal Glands↗
PubMed2004

Thoracoamniotic shunting for fetal pleural effusions with hydrops.

OBJECTIVE: The purpose of this study was to evaluate perinatal outcome after thoracoamniotic shunting for fetal pleural effusions with hydrops. STUDY DESIGN: This was a retrospective study. RESULTS: Shunting was performed immediately after diagnosis and was successful in all 54 of the cases that were attempted. There were 7 pregnancy terminations, 9 in utero deaths, and 38 live births, of which 7 children died in the neonatal period and 31 children survived. Among the liveborn infants, 27 infants were delivered preterm (71%), of whom 7 infants (15%) had preterm premature rupture of membranes and 4 infants (8.5%) had chorioamnionitis. Perinatal death (23/54 infants; 43%) was related to underlying anomalies (7 cases), pulmonary hypoplasia (5 cases), chorioamnionitis (2 cases), or treatment failure for unknown reasons (9 cases). All 31 survivors had chylothorax; for 28 of the survivors, the chylothorax was primary, and for 3 survivors, the chylothorax was the result of right congenital diaphragmatic hernia, pulmonary sequestration, or Noonan syndrome. CONCLUSION: After the shunting, pleural effusion with hydrops has a 57% survival rate; premature delivery is the leading source of morbidity.

Amniotic Fluid↗
PubMed2004

Fetal home monitoring for the prenatal management of gastroschisis.

BACKGROUND: Fetal distress is a frequent complication of gastroschisis, and could be screened for by home monitoring, as many pregnant women expecting an affected child live far away from a specialized perinatal center. This study was undertaken to audit a policy of fetal home monitoring (FHM) to achieve early detection of fetal heart rate (FHR) abnormalities in gastroschisis. METHODS: Daily FHM was started at a median age of 30 weeks in 31 pregnant women referred following prenatal diagnosis of isolated gastroschisis. Monitoring was considered abnormal in cases with decelerations, tachycardia, bradycardia, decreased baseline variability or absence of accelerations. When an ominous FHR was detected and confirmed by in-hospital monitoring, an emergency cesarean section (C-section) was indicated. Otherwise, an elective C-section was planned. RESULTS: In 20 cases FHM remained normal. There were 16 elective C-sections, two emergency C-sections for FHR abnormalities detected by in-hospital monitoring, and two spontaneous premature vaginal deliveries. In 11 cases, an abnormal FHM was detected. There was one intrauterine death with acute ischemic necrosis of the large bowel. The other abnormalities consisted of decreased baseline variability with tachycardia (n = 7) or without tachycardia (n = 3) and were confirmed by in-hospital follow-up in nine cases, leading to emergency C-section. CONCLUSION: The high rate of abnormal FHR patterns picked up by FHM in gastroschisis led to a rate of emergency C-sections of 9/31. However, this strategy failed to prevent one intrauterine death due to acute bowel necrosis.

Adolescent↗
PubMed2004

Three-dimensional ultrasonographic assessment of fetal lung volume as prognostic factor in isolated congenital diaphragmatic hernia.

OBJECTIVE: To evaluate the potential of three-dimensional ultrasound to predict outcome in congenital diaphragmatic hernia. DESIGN: Prospective observational study. SETTING: Tertiary care centre. POPULATION: Twelve cases of isolated congenital diaphragmatic hernia (11 left-sided, 1 right-sided) and 109 controls. METHODS: Fetal lung volume was assessed by three-dimensional ultrasound using the technique of rotation of the multiplanar imaging. In the control fetuses, a logistic transformation was performed to correlate fetal lung volume with gestational age, and the confidence interval was obtained with a bootstrap resampling. A mathematical equation was then obtained allowing calculation of the expected fetal lung volume as a function of gestational age. In fetuses with congenital diaphragmatic hernia, the observed/expected lung volume ratio was compared with postnatal outcome. MAIN OUTCOME MEASURES: Neonatal mortality and pulmonary hypoplasia, which was defined as lung/body weight ratios less than 0.012. RESULTS: The expected fetal lung volume was derived from the mathematical equation: Fetal lung volume (mL) = exp (4.72/(1 + exp ((20.32 - gestational age in weeks)/6.05))). The observed/expected fetal lung volume ratio was significantly lower in the congenital diaphragmatic hernia group (median: 0.34, range: 0.16-0.66), than in the control group (median: 1.02, range: 0.62-1.97, P < 0.0001). The distribution of this ratio was significantly downshifted in the infants with congenital diaphragmatic hernia who died (median: 0.19, range: 0.18-0.66) compared with survivors (median: 0.44, range: 0.36-0.66, P= 0.04). The observed/expected fetal lung volume ratio was also correlated with the postmortem lung/body weight ratio. CONCLUSION: In isolated congenital diaphragmatic hernia, fetal lung volume measurement by three-dimensional ultrasound is a potential predictor for pulmonary hypoplasia and postnatal outcome.

Female↗