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Alexandra Benachi

Publications and source records attributed to Alexandra Benachi.

30 records · Page 2Linked to original sources
PubMed2004

Fetal lung volume estimated by 3-dimensional ultrasonography and magnetic resonance imaging in cases with isolated congenital diaphragmatic hernia.

OBJECTIVE: To assess the agreement of 3-dimensional ultrasonography and magnetic resonance imaging in estimating fetal lung volume in cases with isolated congenital diaphragmatic hernia. METHODS: Fetal lung volume was measured in 11 cases of congenital diaphragmatic hernia (10 left and 1 right) by 3-dimensional ultrasonography and magnetic resonance imaging. These examinations were performed during the same week. The operators were blinded to each other's results. Intraclass correlation was used to evaluate the agreement between 3-dimensional ultrasonography and magnetic resonance imaging estimations of the ipsilateral, contralateral, and total fetal lung volume. A Bland-Altman graph was plotted to detect possible discordant observations. RESULTS: The global intraclass correlation coefficient between magnetic resonance imaging and 3-dimensional ultrasonographic measurement of fetal lung volume was 0.94 (95% confidence interval, 0.78-0.98) with no outliers observed on the Bland-Altman plot. CONCLUSIONS: There is a good agreement between 3-dimensional ultrasonography and magnetic resonance imaging for fetal lung volume estimation in cases with congenital diaphragmatic hernia.

Adult↗
PubMed2004

Volume contrast imaging: A new approach to identify fetal thoracic structures.

OBJECTIVE: To assess the potential of volume contrast imaging for evaluation of fetal intrathoracic structures. METHODS: Volume contrast imaging is a new ultrasonographic method that increases the contrast between tissues. It consists of a 5- to 10-mm-thick slice-shaped volume image projected on a 2-dimensional screen. The rendering process applied on the slice smoothens the speckle pattern of the image by filling up the gaps with tissue information from the adjacent layers. To evaluate the potential of volume contrast imaging for enhancing the contrast between fetal lungs and surrounding tissues, we compared the ability of volume contrast imaging and conventional ultrasonography to image the fetal thymus in 50 controls. We also applied volume contrast imaging to prenatal imaging of 6 thoracic abnormalities (2 left congenital diaphragmatic hernias, 1 right diaphragmatic hernia, 2 congenital adenomatoid lung malformations, and 1 lung sequestration). RESULTS: In controls, the thymus was identified in all cases by volume contrast imaging and in 42 cases (84%) by conventional 2-dimensional ultrasonography. Clear images of macrocystic and microcystic congenital adenomatoid malformations were obtained by volume contrast imaging, which provided precise contouring of the lesions. In cases with congenital diaphragmatic hernias, volume contrast imaging provided clear images of the limits of the lungs ipsilateral to the hernia. CONCLUSIONS: Volume contrast imaging may enhance the contrast between fetal lungs and surrounding organs and can be applied to prenatal imaging of intrathoracic structures in cases with thoracic fetal abnormalities.

Bronchopulmonary Sequestration↗
PubMed2003

Fetal DNA in maternal serum: does it persist after pregnancy?

Fetal DNA and cells present in maternal blood have previously been used for non-invasive prenatal diagnosis. However, some fetal cells can persist in maternal blood after a previous pregnancy. Fetal rhesus status and sex determination have been performed by using amplification by real-time polymerase chain reaction (PCR) of fetal DNA sequences present in maternal circulation; no false-positive results related to persistent fetal DNA from a previous pregnancy have been reported. This idea has recently been challenged. An SRY real-time PCR assay was performed on the serum of 67 pregnant women carrying a female fetus but having previously given birth to at least one boy and on the serum of 30 healthy non-pregnant women with a past male pregnancy. In all cases, serum was negative for the SRY gene. These data suggest that fetal DNA from a previous pregnancy cannot be detected in maternal serum, even by using a highly sensitive technique. Therefore, non-invasive prenatal diagnosis by fetal sex determination for women at risk of producing children with X-linked disorders, and fetal RHD genotyping is reliable and secure as previously demonstrated.

Adult↗
PubMed2003

First-trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three-dimensional ultrasound.

To illustrate the three-dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three-dimensional ultrasound. Because the parents were first-degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two-dimensional ultrasound performed by physicians aware of the history; the quality of three-dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three-dimensional surface-rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three-dimensional ultrasound confirmed the conventional two-dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis.

Abnormalities, Multiple↗
PubMed2003

Management of asymptomatic neonatal cystic adenomatoid malformations.

BACKGROUND/PURPOSE: Although much is known about the prenatal course of cystic adenomatoid malformations (CCAM), the postnatal course of asymptomatic lesion is less well documented. The authors studied the pre- and postnatal course and treatment of asymptomatic CCAM. METHODS: The authors reviewed the files of all patients referred to Necker-Enfants Malades hospital with an antenatal diagnosis of CCAM and asymptomatic at birth. RESULTS: Files of 29 patients were studied. The first x-ray film was considered normal in 12 cases (41.3%). Computed tomography was normal in 4 cases and showed cystic lung malformations in the other patients. Postnatally, clinical manifestations occurred in 3 patients (10.3%). CCAM vanished in 6 cases. Surgical resection of CCAM was performed in 17 cases (58.6%). All the patients currently are asymptomatic. CONCLUSIONS: CCAM can shrink or vanish during pregnancy and antenatal ultrasound findings are not predictive of the postnatal course. Thus, all infants with prenatal diagnosis of CCAM require postnatal evaluation. Normal radiographic findings at birth do not rule out CCAM persistence on CT. The treatment of asymptomatic CCAM is controversial. Surgery may be advocated because of the low morbidity and the prevention of late complications, above all, cancer. The surgical indications of small (<3 cm) and asymptomatic lesions should be discussed on a case-by-case basis with the parents.

Comorbidity↗
PubMed2003

Perinatal three-dimensional color power Doppler ultrasonography of vein of Galen aneurysms.

OBJECTIVE: To present the prenatal and postnatal three-dimensional color power Doppler ultrasonographic features in cases of vein of Galen aneurysmal malformation. METHODS: Prenatal three-dimensional color power Doppler ultrasonography was used to image the neurovascular malformations in 3 fetuses with vein of Galen aneurysms and in unaffected control fetuses at the same gestational age. Postnatal transfontanel three-dimensional power Doppler ultrasonography was also performed in the third affected case and in an unaffected control neonate. The feeding and drainage vessels were analyzed in the three-dimensional rendering mode. RESULTS: The first case was complicated by porencephaly and fetal heart failure, and the pregnancy was terminated. The other 2 cases were uncomplicated prenatally, but 1 of the infants died after aneurysmal embolization due to acute cerebral ischemia. The angioarchitecture of the arteriovenous fistula was characterized in greater detail by three-dimensional color power Doppler ultrasonography than by two-dimensional ultrasonography, especially regarding the anatomic features of the feeding and drainage vessels and their connections with the dilated vein of Galen. CONCLUSIONS: Three-dimensional color power Doppler ultrasonography provided detailed images of the aneurysmal malformation and its vascular connections. Further studies are needed to correlate three-dimensional vascular imaging patterns with outcome.

Female↗
PubMed2002

Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood.

Fetal cells circulating in the peripheral blood of pregnant women are a potential target for noninvasive genetic analyses. They include epithelial (trophoblastic) cells, which are larger than peripheral blood leukocytes. We enriched circulating trophoblastic cells using the isolation by size of epithelial tumor cells (ISET) method. Peripheral blood was obtained at 11 to 12 weeks of pregnancy. Cells isolated by ISET were stained by hematoxylin and eosin or by immunohistochemistry. Large epithelial cells were microdissected and fetal cell identification was obtained by polymerase chain reaction with short tandem repeats and/or Y-specific primers. By analyzing only 2 ml of blood, we found a variable number (n = 1 to 7) of Y-positive cells (overall 15 of 23) in all of the six mothers carrying a male fetus. In contrast, none of the 26 cells isolated from seven mothers carrying a female fetus scored positive. Eleven cells were analyzed by using short tandem repeat-specific markers: six of them showed a fetal profile and five showed a maternal profile consistently with Y-specific results. Only one-fifth of the single cell DNA was used for fetal cell assessment, leaving enough material for further genetic tests. We also show that the ISET approach allows the performance of fluorescence in situ hybridization analyses and the detection of DNA point mutations in single microdissected cells. We conclude that this is a powerful approach to enrich circulating fetal cells and prove their fetal origin, and that it may have implications for noninvasive prenatal diagnosis of genetic disorders.

Cell Separation↗
PubMed2002

Expression of surfactant proteins and thyroid transcription factor 1 in an ovine model of congenital diaphragmatic hernia.

BACKGROUND/PURPOSE: The question of delayed lung maturation in congenital diaphragmatic hernia (CDH) is pending. Data about surfactant proteins (SPs) are sparse in human fetuses and discrepant in the ovine CDH model. The purpose of this study was to investigate, in the ovine surgically created CDH model, the expression of SPs and of thyroid transcription factor 1 (TTF-1), a key regulator of lung development that also controls the expression of surfactant proteins. METHODS: Diaphragmatic hernia (DH) was created surgically in lamb fetuses on day 85 of gestation. On day 139, 5 DH and 6 control fetuses were retrieved by cesarean section. The mRNA levels for SPs and TTF-1 were determined by Northern blot analysis; SP-A and SP-B protein levels were assessed by Western blot analysis. RESULTS: In DH lungs, SP-A, SP-B, and SP-C messenger RNAs were diminished by 82%, 67%, and 32%, respectively, compared with control level. SP-A and SP-B protein amounts were decreased consistently. TTF-1 expression was not altered in the surgical model. CONCLUSIONS: SP's deficiency appears to be a common feature of the various CDH models. By contrast with the nitrofen model, TTF-1 expression was not altered in the surgical model indicating different underlying molecular mechanisms in both models.

Animals↗
PubMed2002

Omphalocele: beyond the size issue.

A small omphalocele was diagnosed and followed up prenatally. Ultrasonography examinations and clinical examination at birth were all consistent with an isolated, small omphalocele. Immediate surgical exploration at birth found an associated type I intestinal atresia. This rare association and the need for immediate postnatal management of omphalocele are discussed, and the literature is reviewed.

Adult↗
PubMedDate not supplied

Can three-dimensional ultrasound be used for the assessment of the fetal lung volume in cases of congenital diaphragmatic hernia?

We report on 2 fetuses with congenital diaphragmatic hernia (CDH) in whom the fetal lung volumes were estimated by three-dimensional ultrasound and the results compared with the postmortem lung volume measurements. Both examiners (sonographer and pathologist) were blinded to each other's results. The 1st case was a right CDH diagnosed at 20 weeks of gestation. The 2nd case was a left CDH diagnosed at 22 weeks of gestation. Both pregnancies were terminated upon request of the parents. Three-dimensional ultrasound estimation of the fetal lung volume was performed 1 day before termination of pregnancy using the technique of rotation of the three perpendicular planes. The left and right lung volumes estimated by three-dimensional ultrasound were 3.88 and 1.87 cm(3), respectively, in the 1st case and 0 and 5.52 cm(3), respectively, in the 2nd case. On postmortem examination, the left and right lung volumes were 3.0 and 2.2 cm(3), respectively, in case 1 and 1.1 and 5.6 cm(3), respectively, in case 2. This suggests that a three-dimensional estimation of pulmonary volumes may be correlated with postmortem findings in cases with CDH.

Abortion, Induced↗