Apport du Doppler couleur et du Doppler pulsé dans les malformations pulmonaires du foetus

ROUEN-BU Médecine-Pharmacie (765402102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Dilatation ventriculaire foetale sévère isolée (suivi post-natal d'une série de 8 cas)

Une dilatation ventriculaire ou ventriculomégalie est un excès de liquide céphalo rachidien (LCR) dans les ventricules cérébraux. Il s'agit d'une des anomalies cérébrales foetales les plus fréquemment diagnostiquées par l'échographie. Dans la littérature, les dilatations ventriculaires modérées isolées (10 à 15 mm) sont de bon pronostic. En revanche, les dilatations sévères (> 15 mm) sont fréquemment associées à des aneuploïdies et des malformations cérébrales. Peu d'études relatent le devenir des dilatations sévères isolées. L'objectif de notre travail a consisté à rapporter le devenir de cas de dilatations ventriculaires isolées sévères isolées, documentées par une IRM cérébrale foetale. Pour cela, nous avons étudié rétrospectivement 8 cas de dilatations ventriculaires sévères isolées suivis au CHU de Rouen. Le diagnostic avait été porté lors des échographies du 2eme trimestre de grossesse pour 4 enfants, et lors des échographies du 3ème trimestre pour 4 autres enfants. Sept des 8 enfants ont bénéficié d'un IRM anténatale au 3ème trimestre de grossesse. Cette IRM confirmait la dilatation ainsi que la normalité du parenchyme cérébral et ne mettait pas en évidence d'étiologie à cette dilatation (absence d'obstruction ou d'atrophie parenchymateuse). Le développement neurologique est normal pour tous les enfants, 2 d'entre eux présentant des troubles mineurs de l'attention et du langage, résolutifs par une prise en charge adaptée. Ainsi, sous réserve d'un bilan étiologique complet comprenant une IRM prénatale d'excellente qualité au troisième trimestre permettant de préciser le caractère isolé de cette dilatation ventriculaire et surtout la normalité du parenchyme cérébral, les parents doivent être accompagnés et encouragés à poursuivre la grossesse. Notre étude présente des limites (faible cohorte et durée de suivi encore courte), cependant ces résultats sont optimistes et méritent d'être complétés par une étude prospective.ROUEN-BU Médecine-Pharmacie (765402102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

[Postnatal imaging of prenatally diagnosed malformation of the urinary tract]

International audienc

Severe apparently isolated fetal ventriculomegaly and neurodevelopmental outcome

International audienc

Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum

International audienc

Post hemorrhagic hydrocephalus and neurodevelopmental outcomes in a context of neonatal intraventricular hemorrhage: an institutional experience in 122 preterm children

Abstract Background Intraventricular hemorrhage (IVH) is a frequent complication in extreme and very preterm births. Despite a high risk of death and impaired neurodevelopment, the precise prognosis of infants with IVH remains unclear. The objective of this study was to evaluate the rate and predictive factors of evolution to post hemorrhagic hydrocephalus (PHH) requiring a shunt, in newborns with IVH and to report their neurodevelopmental outcomes at 2 years of age. Methods Among all preterm newborns admitted to the department of neonatalogy at Rouen University Hospital, France between January 2000 and December 2013, 122 had an IVH and were included in the study. Newborns with grade 1 IVH according to the Papile classification were excluded. Results At 2-year, 18% (n = 22) of our IVH cohort required permanent cerebro spinal fluid (CSF) derivation. High IVH grade, low gestational age at birth and increased head circumference were risk factors for PHH. The rate of death of IVH was 36.9% (n = 45). The rate of cerebral palsy was 55.9% (n = 43) in the 77 surviving patients (49.4%). Risk factors for impaired neurodevelopment were high grade IVH and increased head circumference. Conclusion High IVH grade was strongly correlated with death and neurodevelopmental outcome. The impact of an increased head circumference highlights the need for early management. CSF biomarkers and new medical treatments such as antenatal magnesium sulfate have emerged and could predict and improve the prognosis of these newborns with PHH

Screening for small for gestational age infants in early vs late third-trimester ultrasonography: a randomized trial

International audienceBACKGROUND: Recent studies have demonstrated that a routine third-trimester ultrasound scan may improve the detection of small for gestational age infants when compared with clinically indicated ultrasound scans but with no reported reduction in severe perinatal morbidity. Establishing the optimal gestational age for the third-trimester examination necessitates evaluation of the ability to detect small for gestational age infants and to predict maternal and perinatal outcomes. Intrauterine growth restriction most often corresponds with small for gestational age infants associated with pathologic growth patterns. OBJECTIVE: This study aimed to assess the performance of routine early ultrasound scans vs late ultrasound scans during the third trimester of pregnancy to identify small for gestational age infants and fetuses with intrauterine growth restriction. STUDY DESIGN: This was an open-label, randomized, parallel trial conducted in Upper Normandy, France, from 2012 to 2015. The study eligibility criteria were heathy, nulliparous women older than 18 years with gestational age determined using the crown-rump length at the first trimester routine scan and with no fetal malformation or suspected small for gestational age fetus at the routine second trimester scan. Pregnant women were randomly assigned to a third-trimester scan group at 31 weeks gestational age ±6 days (early ultrasound scan) or at 35 weeks gestational age ±6 days (late ultrasound scan). The primary outcome of this trial was the ability of a third trimester scan to predict small for gestational age infants (customized birth weight <10th percentile) and intrauterine growth restriction (customized birth weight <third percentile) using birth weight as the gold standard. The purpose of these adjustments was to optimize the detection of fetal weight associated with pathologic growth patterns. It was calculated that a sample size of 3720 women would be required to obtain 80% power at a 2-sided level of 0.05 with a 15% difference in sensitivity between the 2 intervention group to detect small for gestational age fetuses in favor of the late ultrasound scan group and considering that small for gestational age infants would represent 10% of all live births. Secondary outcomes were maternal and perinatal morbidities with interventions reported. The analysis was based on the intention-to-treat principle. RESULTS: Results from 1853 women assigned to the early ultrasound scan group and 1848 women assigned to the late ultrasound scan group were analyzed. The sensitivity was found to be higher in the late ultrasound scan group than in the early ultrasound scan group, both for identifying small for gestational age infants (27%; 22%–32% vs 17%; 13%–22%; P=.004) and intrauterine growth restriction (44%; 35%–54% vs 18%; 11%–27%; P<.001). There was little difference in the specificity between the late ultrasound scan and early ultrasound scan groups in identifying cases of small for gestational age (97%; 96%–98% and 98%; 97%–99%, respectively; P=.04) and intrauterine growth restriction (96%; 95%–97% and 97%; 96%;–97%, respectively; P=.24). Overall, the maternal and neonatal outcomes were comparable between the early ultrasound scan and late ultrasound scan groups with the exception of additional (at least 1) ultrasound scans performed (25% in the early ultrasound scan group vs 19% in the late ultrasound scan group; P<.001). Rates of perinatal death (0.4% vs 0.8%; P=.12) and adverse perinatal outcomes (1.8% vs 2.7%; P=.08) were comparable between the early ultrasound scan and late ultrasound scan assigned groups, and the overall sensitivity to detect small for gestational age infants and intrauterine growth restriction, including in the last ultrasound scan performed before delivery, were also similar (30%; 25%–36% vs 26%; 21%–31%; P=.23; and 50%; 40%–60% vs 38%; 28%–48%; P=.07). CONCLUSION: A late ultrasound scan performed in the third trimester increases the probability of detecting small for gestational age infants and intrauterine growth restriction with fewer additional scans reported than for the early ultrasound scan group. The overall perinatal outcome risk was comparable between the 2 groups. However, the overall sensitivity for detecting small for gestational age fetuses and intrauterine growth restriction, including in the last ultrasound scan performed before delivery, remains comparable between the late ultrasound scan and early ultrasound scan groups

Pyridoxine-dependent epilepsy: report on three families with neuropathology

International audienc

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

International audienceSMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report