B. Maugey-Laulom

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).

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.

Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study

To determine whether a specific prenatal sonographic pattern can be identified for autosomal dominant polycystic kidney disease (ADPKD) and if so whether it would be helpful in orienting complementary analysis, properly counseling parents and adapting pregnancy management.

Meckel-Grüber syndrome: sonography and pathology.

To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel–Grüber syndrome (MGS).

Prenatal Diagnosis of Schizencephaly by Fetal Magnetic Resonance Imaging

Schizencephaly is a neuronal migration anomaly characterized by gray matter lined clefts extending from the ventricle to the cortical surface leading to specific lesions, well demonstrated by imaging. The lips of the clefts can be fused or separated. Prognosis is related to the extend of the involved cortex. Both genetic and acquired factors can be responsible for this pathology. Three cases of antenatal diagnosed open schizencephaly are reported. Two cases are unilateral and one is bilateral. A cerebral anomaly has been detected in all cases by routine ultrasonography (US) revealing a ventricular dilatation with cortical associated abnormalities. Prenatal magnetic resonance imaging (MRI) permitted the diagnosis in the 3 cases. All cases had led to abortion because of the importance of the cortical defect. The aim of this report is to point out the importance of fetal MRI in the diagnosis of migration disorder and to discuss the medical implications. Indeed, MRI is better suited than US for the prenatal diagnosis of schizencephaly, being able to detect normal and abnormal brain cellular migration, especially with fast imaging (HASTE sequences). With its multiplanar imaging capability, MRI demonstrates the cleft extending from the pial surface to the ventricular ependyma and thus provides characteristic diagnosis of this disorder. Moreover, ventricular dilatation, a frequent anomaly detected by US should be completed with MRI in order to research a neuronal migration disorder.

Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis

We report the first case of sporadic hypochondroplasia diagnosed in utero by computed tomography (CT) three-dimensional (3D) imaging and molecular analysis at 38 weeks’ gestation. Prenatal sonographic examinations performed at 32 and 35 weeks’ gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly. Based on these findings, a nonlethal form of skeletal dysplasia was suspected and a multislice CT imaging with 3D reconstruction was performed depicting skeletal abnormalities which suggested hypochondroplasia. The prenatal diagnosis was confirmed by DNA mutation analysis of the fibroblast growth receptor 3 gene.

Diagnostic anténatal d'un cas familial de syndrome cérébro costo mandibulaire

e syndrome cérébro-costo-mandibulaire (SCCM) est une affection congénitale rare (1) associant des anomalies des arcs costaux postérieurs, un syndrome de Pierre Robin et un retard mental qui reste inconstant. C’est une affection, le plus souvent grave, nécessitant une prise en charge néonatale en milieu spécialisé en raison du risque de détresse respiratoire par hypoplasie pulmonaire (2). Nous rapportons un cas familial diagnostiqué en anténatal par l’échographie et le scanner 3D fœtal chez une patiente de 25 ans, elle-même porteuse de ce syndrome.

Truncus arteriosus communis: report of three cases and review of literature

Background Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk. Objectives In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins. Methods We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH). Results Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal. Conclusion Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.

RP17 Diagnostics differentiels des reins hyperechogenes avec kystes chez le fœtus (uropathies exclues) : etude multicentrique

Objectifs Analyse d’une cohorte de fœtus porteurs de reins hyperechogenes kystiques et dont le diagnostic final de nephropathie est connu. Materiels et methodes Etude multicentrique concernant 93 fœtus avec reins hyperechogenes. Analyse retrospective des signes echographiques de 30 d’entre eux qui presentaient des kystes renaux : 3 cas de polykystose autosomique dominante (PKAD), 9 cas de polykystose autosomique recessive (PKAR), 3 cas de Bardet-Biedl (BB), 9 cas de Meckel-Gruber (MG), 3 cas d’Ivemark II, 1 cas de Jarcho-Levine, 1 cas de Beemer et 1 cas de syndrome MG-like. Resultats Un tiers des fœtus avait des kystes renaux (30/93). Les kystes etaient presents dans 11 % des PKAD (3/28), 29 % des PKAR (9/31), 27 % des BB (3/11), 100 % des 9 MG, 50 % des 6 cas d’Ivemark II et dans tous les 3 cas d’autres syndromes (Jarcho-Levine, Beemer et MG-like). Aucun des 5 cas de trisomie 13 n’avait des kystes. Aucune malformation n’etait associee dans les 12 cas de polykystoses. Dans tous les autres cas, il existait des malformations souvent evocatrices comme une polydactylie dans les syndromes de BB et de Beemer, un defect occipital +/-Dandy-Walker dans les MG, des anomalies thoraciques ou vertebrales dans le syndrome de Jarcho-Levine. Conclusion L’association reins hyperechogenes et kystes renaux n’est pas rare. La cle du diagnostic repose souvent sur les malformations associees. En l’absence de malformation, le diagnostic principal reste celui d’une polykystose recessive ou dominante.

Interet du scanner 3D-Fœtal dans le diagnostic antenatal des maladies osseuses constitutionnelles

Objectifs Evaluer l’interet diagnostique du scanner 3D-Fœtal en cas de suspicion de maladie osseuse constitutionnelle fœtale. Materiels et methodes Etude prospective portant sur 12 fœtus presentant une suspicion echographie de maladie osseuse constitutionnelle (os longs courts avec cassure de la courbe de croissance chez 7 fœtus, anomalies costales et mandibulaires chez un fœtus, anomalies vertebrales chez un fœtus, anomalies de segmentation d’un ou de plusieurs membres chez 2 fœtus, suspicion de syndrome de Vactrel chez un fœtus). Chaque patiente a beneficie d’un scanner 3D-Fœtal (Somaton 16, Siemens) avec reconstructions en mode Rendu volumique (logiciel 4D, InSpace). Les cliches radiographiques post-mortem ou post-nataux ont ete consideres comme gold standard. Resultats Le scanner 3D-Fœtal a permis de depister un cas d’hypochondroplasie, un cas de syndrome cerebro-costo-mandibulaire, un cas de kyste mesenterique avec hemivertebres et courbure cervicale anormale et un cas de puzzle vertebral dans le cadre d’un syndrome de Vactrel. Il existe une tres bonne correlation avec les radiographies post-natales. La dose d’irradiation fœtale (2 mSv) n’est pas superieure a l’irradiation au cours de la realisation d’un contenu uterin. Conclusion Le scanner 3D fœtal semble donc etre une technique interessante et peu irradiante en cas de suspicion echographique de maladie osseuse constitutionnelle, cet examen devant se substituer progressivement au contenu uterin.