Marie Cassart

Prenatal prognosis of congenital diaphragmatic hernia using magnetic resonance imaging measurement of fetal lung volume

To investigate the correlation between fetal lung volume (FLV), measured with magnetic resonance imaging (MRI), and postnatal mortality in newborns with prenatally diagnosed isolated congenital diaphragmatic hernia (CDH).

Contribution of three-dimensional computed tomography in the assessment of fetal skeletal dysplasia

To compare the diagnostic accuracy of two‐dimensional (2D) ultrasound and three‐dimensional (3D) computed tomography (CT) for the diagnosis of fetal skeletal anomalies.

Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study

To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys.

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

Primary microcephaly is a disorder of brain development characterized by a congenitally small but normally formed brain, and non‐progressive mild‐to‐moderate mental retardation. Most cases are inherited in an autosomal recessive pattern, with genetic heterogeneity, the ASPM locus being most common. Postnatal imaging data are scarce and prenatal imaging unreported. Microcephaly with simplified gyral pattern shares features with primary microcephaly, but it is not clear whether these disorders are part of a phenotypic continuum. We examined a consanguineous family with a daughter affected with primary microcephaly and an ongoing pregnancy. We performed prenatal and postnatal brain magnetic resonance imaging and genetic analyses in the course of genetic evaluation. The affected daughter and the fetus were homozygous for polymorphic markers linked to the ASPM locus, and we identified a novel, truncating ASPM mutation by direct sequencing of the gene. Imaging at 30 and 35 gestational weeks showed microcephaly with simplified gyration, more severe anteriorly. The antero‐posterior gradient of gyration persisted 1 week after birth. Brain imaging in the affected sister also showed some degree of a predominantly anterior simplification of gyration. Our data suggest that one form of autosomal recessive microcephaly is allelic to at least a subset of microcephaly with simplified gyral pattern, and that the neuronal depletion associated with the ASPM defect predominantly affects the anterior cortex.

Tumours of the fetal body: a review

Tumours of the fetal body are rare, but lesions have been reported in all spaces, especially in the mediastinum, the pericardial space, the adrenals, the kidney, and the liver. Lymphangioma and teratoma are the commonest histological types encountered, followed by cardiac rhabdomyoma. Adrenal neuroblastoma is the commonest malignant tumour. Imaging plays an essential role in the detection and work-up of these tumours. In addition to assisting clinicians it also helps in counselling parents. Most tumours are detected by antenatal US, but fetal MRI is increasingly used as it brings significant additional information in terms of tumour extent, composition and complications.

Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet–Biedl syndrome

To describe an antenatal sonographic renal pattern encountered in Bardet–Biedl syndrome, a rare autosomal recessive disorder whose definitive diagnosis is often delayed, and to describe the evolution of the sonographic appearance of the kidneys after birth.

Preferential reduction of quadriceps over respiratory muscle strength and bulk after lung transplantation for cystic fibrosis

Background: In the absence of complications, recipients of lung transplants for cystic fibrosis have normal pulmonary function but the impact of the procedure on the strength and bulk of respiratory and limb muscles has not been studied. Methods: Twelve stable patients who had undergone lung transplantation for cystic fibrosis 48 months earlier (range 8–95) and 12 normal subjects matched for age, height, and sex were studied. The following parameters were measured: standard lung function, peak oxygen uptake by cycle ergometry, diaphragm surface area by computed tomographic (CT) scanning, diaphragm and abdominal muscle thickness by ultrasonography, twitch transdiaphragmatic and gastric pressures, quadriceps isokinetic strength, and quadriceps cross section by CT scanning, and lean body mass. Diaphragm mass was computed from diaphragm surface area and thickness. Results: Twitch transdiaphragmatic and gastric pressures, diaphragm mass, and abdominal muscle thickness were similar in the two groups but quadriceps strength and cross section were decreased by nearly 30% in the patients. Patients had preserved quadriceps strength per unit cross section but reduced quadriceps cross section per unit lean body mass. The cumulative dose of corticosteroids was an independent predictor of quadriceps atrophy. Peak oxygen uptake showed positive correlations with quadriceps strength and cross section in the two groups, but peak oxygen uptake per unit quadriceps strength or cross section was reduced in the patient group. Conclusions: The diaphragm and abdominal muscles have preserved strength and bulk in patients transplanted for cystic fibrosis but the quadriceps is weak due to muscle atrophy. This atrophy is caused in part by corticosteroid therapy and correlates with the reduction in exercise capacity.

Effect of systemic inflammation on inspiratory and limb muscle strength and bulk in cystic fibrosis

RATIONALE Diaphragm thickness is increased in cystic fibrosis (CF), but it shows a marked variability between patients. The variable response of the diaphragm to loading may reflect the combined and opposite effects of training by the respiratory disease and systemic inflammation. OBJECTIVES To assess the impact of systemic inflammation on diaphragm and limb muscle strength and bulk in adult patients with CF. METHODS In 38 stable patients with CF and 20 matched control subjects, we measured fat-free mass (FFM), inspiratory muscle strength, diaphragm thickness, quadriceps and biceps strength and cross-sectional area, and circulating levels of leukocytes, C-reactive protein, IL-6, IL-8, IL-17, tumor necrosis factor-alpha, tumor necrosis factor-alpha soluble receptors, and immunoglobulin G. MEASUREMENTS AND MAIN RESULTS Patients had increases in several inflammatory markers that correlated with the severity of lung disease and nutritional depletion. Compared with control subjects, patients with CF had increased diaphragm thickness and inspiratory muscle strength and showed a trend toward a reduction in limb muscle strength and bulk. Multiple regression analyses identified FFM and airway resistance as independent predictors of diaphragm thickness, but systemic inflammation had no (or only a minor) predictive effect on FFM, inspiratory muscle strength, diaphragm thickness, and limb muscle strength and bulk. CONCLUSIONS In patients with CF, the intensity of systemic inflammation does not account significantly for the variance of FFM and diaphragm or limb muscle strength and bulk. Training of the diaphragm in CF occurs despite the presence of systemic inflammation.

Evolution of fetal ultrasonography.

The authors wish to highlight the evolution that has occurred in fetal ultrasound in recent years. A first significant evolution lies in the increasing contribution of first trimester ultrasound for the detection of fetal anomalies. Malformations of several organs and systems have been diagnosed during the first trimester. Furthermore the systematic measurement of the fetal neck translucency has led to increasing rate of detection of aneuploidies and heart malformations. For several years now, three-dimensional (3D) and 4D ultrasound (US) have been used as a complementary tool to 2D US for the evaluation of fetal morphology. This brings an improved morphologic assessment of the fetus. Applications of the techniques are increasing, especially for the fetal face, heart and extremities. The third field where fetal US is continuously providing important information is the knowledge of the natural history of diseases. This has brought significant improvement in the postnatal management of several diseases, especially urinary tract dilatation and broncho-pulmonary malformation.

Imaging and classification of congenital cystic renal diseases

OBJECTIVE The purpose of this clinical perspective is to describe a decision-tree approach to the finding of hyperechoic kidneys as signs of congenital renal cystic disease in fetuses and children. This approach takes into account the latest classification of inherited renal cystic diseases. The basis of the approach is a detailed sonographic analysis in addition to assessment of clinical data and the familial history. CONCLUSION With the decision-tree approach, typical sonographic patterns can be described and used for accurate diagnosis of isolated renal cystic diseases and polymalformative syndromes. In some cases, however, the diagnosis is not achieved, and complementary examinations are needed.