H. Laurichesse-Delmas

Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry-based study.

To describe the true incidence, prenatal detection rate and fetal outcome of congenital diaphragmatic hernia (CDH) in a systematically registered population over an 18‐year period and to determine any change in trends over time.

Ultrasonographic signs of twin–twin transfusion syndrome in a monoamniotic twin pregnancy

one reported case in the first trimester demonstrated an increased NT of 5.8 mm8. The finding of congenital lung masses following identification of increased NT in the first trimester requires follow-up to monitor the development of both hydrops, which is the main prognostic factor, and malignancy. Superior mediastinal compression leading to increased NT may be the consequence of both CCAM and CLE.

Cerclage cervical en urgence au deuxième trimestre de la grossesse : expérience clermontoise

OBJECTIVES The objective of this study was to identify factors associated with favourable perinatal outcome after emergency cervical cerclage during mid-trimester of pregnancy. PATIENTS AND METHODS This is a retrospective study of all cases who underwent emergency cervical cerclage between 16 to 28 weeks of gestation (WG) over a period of 16 years in a University Hospital. RESULTS Among the 32 cases, the postnatal survival rate (day 28) was 80%. Delivery occurred at a mean gestational age of 33.1 WG [18-41.3 WG] and after 37 WG in 39% of cases. The perinatal outcome was improved by absence of bleeding (P=0.01), unripened cervix (P=0.02), cervical dilatation below 2 cm (P=0.002), no protruding membranes (P=0.02) and more advanced gestational age at the procedure (P=0.005). When no uterine contraction and no maternal blood inflammation were observed at admission, an expectancy of 48 hours before the procedure did not improve significantly perinatal outcome (gestational age at birth and survival rate [P=0.1 and P=0.3 respectively]). DISCUSSION AND CONCLUSION Perinatal outcome after emergency cerclage depends on cervical status and gestational age at procedure. It is not influenced by an expectancy of 48 hours before intervention for patients with no uterine contraction and no maternal blood inflammation at admission.

Prenatal diagnosis of lobar bronchial atresia

We report three cases of fetal lobar bronchial atresia referred to our Fetal Medicine Center during the mid‐trimester of pregnancy over the last 15 years. Lobar bronchial atresia can mimic a main stem bronchial atresia on mid‐trimester ultrasound examination as it induces extensive lobar enlargement, major mediastinal shift and eversion of the diaphragm. It was associated with severe pulmonary hypoplasia in all three cases, even though polyhydramnios and ascites were absent in two. Termination of pregnancy was performed at parental request after extensive counseling in each of the cases and necropsy confirmed one or two enlarged lung lobes leading to major compression of the remaining lobe(s) of the ipsilateral lung, the contralateral lung and the heart. No other anomalies were observed and the karyotype was normal in all cases. Copyright

Prenatal diagnosis of the VACTERL association using routine ultrasound examination.

BACKGROUND The prognosis and early neonatal management of the VACTERL association depend mainly on the severity of malformations ascertained prenatally. METHODS Here we reviewed the spectrum of clinical features observed in cases of VACTERL association ascertained prenatally through ultrasound examination but examined at birth and compared them with cases ascertained postnatally. RESULTS From 1995 to 2011, a total of 19 cases of VACTERL association were observed in our center; 10 were ascertained prenatally and confirmed after birth whereas 9 were ascertained only after birth. The types and frequencies of malformations observed prenatally were as follows: renal malformations (45%), tracheoesophageal fistula (44%), cardiac malformations (20%), vertebral (13%), and limb (11%) defects. Anal atresia was never detected using routine prenatal ultrasound examination. CONCLUSION Further studies of fetuses with the VACTERL association are necessary to better delineate the malformations spectrum observed prenatally to improve the early recognition of the VACTERL association.

Diagnostic anténatal des tumeurs cérébrales fœtales et diagnostics différentiels

Fetal brain tumors are rare and have different histologies. Although the definitive diagnosis relies on the histopathology of the tumor, it is useful to distinguish the tumors potentially curable from the tumors rapidly fatal after birth. Nevertheless, some intracranial masses are not tumors. We report four cases of intracerebral masses diagnosed prenatally corresponding to different histological lesions: teratoma, fetus-in-fetu, chraniopharyngioma, hemangioma. We discuss the elements of the differential diagnosis, which can be identified prenatally.

Recurrent congenital pulmonary lymphangiectasia

using real-time three-dimensional echocardiography and a novel ‘sweep volume’ acquisition technique. Ultrasound Obstet Gynecol 2005; 25: 435–443. 10. Goncalves LF, Espinoza J, Kusanovic JP, Lee W, Nien JK, Santolaya-Forgas J, Mari G, Treadwell MC, Romero R. Applications of 2-dimensional matrix array for 3and 4-dimensional examination of the fetus: a pictorial essay. J Ultrasound Med 2006; 25: 745–755.

Quel prélèvement choisir pour les grossesses gémellaires : choriocentèse ou amniocentèse ?

Resume Objectif Definir les modalites de realisation et les risques encourus en cas de geste invasif a visee diagnostique (amniocentese/choriocentese) dans un contexte de grossesse gemellaire. Materiel et methodes Une recherche bibliographique PubMed a ete realisee ainsi qu’une consultation de la base de donnees Cochrane et des recommandations de plusieurs societes savantes. Resultats Le risque de perte d’une grossesse gemellaire apres geste invasif apparait un peu plus eleve que celui observe sur singleton soit de l’ordre de 1,5-2% pour une amniocentese realisee apres 15 SA et de l’ordre de 2% pour une choriocentese realisee au premier trimestre (NP3). Le prelevement systematique des deux conceptus n’est pas toujours necessaire. Toutefois la demande du couple peut conduire a le realiser (avis d’expert). Les prelevements ovulaires sur grossesse gemellaire comportent plusieurs risques specifiques : prelevement redondant, permutation des echantillons et mauvaise identification du fœtus atteint en cas de discordance. Pour lutter contre ces risques, il est recommande que le prelevement soit assure par un operateur entraine, sous echoguidage permanent, apres un reperage topographique soigneux consigne dans un schema ou figurent les insertions placentaires et funiculaires (avis d’expert). Si un fœticide selectif est susceptible d’etre pratique, il est fortement recommande que le(s) prelevement(s) initial(aux) soi(en)t realise(s) par la meme equipe medicale (avis d’expert). Pour l’amniocentese, le choix d’inserer deux aiguilles ou une seule est laisse a l’operateur sauf pour les situations d’infection a risque de transmission maternofœtale ou deux ponctions distinctes doivent etre realisees (avis d’expert). Pour la choriocentese, il est imperatif d’avoir recours a un operateur entraine et de realiser le prelevement a proximite de chaque insertion funiculaire (avis d’expert). Conclusion La choriocentese peut etre realisee des le premier trimestre et permet ainsi d’acceder a un resultat et a un eventuel fœticide plus precocement que l’amniocentese. Les deux techniques necessitent une bonne maitrise des gestes invasifs fœtaux pour eviter les risques specifiques dans le contexte de gemellite.

The Changes in Angiogenic Gene Expression in Recurrent Multiple Chorioangiomas

Objectives: To assess the messenger ribonucleic acid expression in placental tissue of growth factors, cytokines, angiogenic and anti-angiogenic factors in one case of recurrent multiple chorioangiomas. Methods: Complementary deoxyribonucleic acid array analysis was performed on the affected placentae and on normal placentaes (controls) to compare messenger ribonucleic acid levels of 96 genes involved in angiogenesis. Results: Eleven genes presented more than two-fold alteration in expression levels: undetectable (angiopoietin 1, osteonectin, tyrosine kinase endothelial, neuropilin 1), decreased (transcription growth factor β receptor 3, tissue inhibitor of metalloproteinase type 2, EGF receptor, integrin-α V, tyrosine kinase vascular endothelial growth factor receptor 2), increased (angiopoietin 2, osteopontin). Conclusions: We illustrated the complexity of angiogenic disruption in recurrent multiple chorioangiomas leading to the difficulty to propose a single candidate gene to explain this pathology.

Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24‐year population‐based study

BACKGROUND Transposition of great arteries (TGA) defined as the combination of concordant atrioventricular and discordant ventriculo-arterial connections is one of the most common congenital heart defects. Prenatal diagnosis of TGA remains difficult. To determine the impact of antenatal diagnosis we evaluated the sensitivity of antenatal detection and the neonatal mortality of TGA considering two study periods and two major types of TGA. METHODS A cross-sectional study was performed. Data were collected from a French population-based birth defect registry. From 1988 to 2012, 94 fetuses with TGA were registered. The study period was subdivided into the 1988 to 1999 period and the 2000 to 2012 period. Two types of TGA were considered: isolated TGA (n = 66) and associated TGA (n = 28). A stratified analysis was performed considering the study periods and the types of TGA. RESULTS Considering the study periods, the sensitivity of prenatal detection of TGA increased significantly (9.8% vs. 51.5%, p = 0.0001). The same trend was found for associated TGA (4.8% vs. 33.3%, p = 0.002) and isolated TGA (21.1% vs. 100%, p < 0.001). A late diagnosis of TGA (7 days after birth) was observed in 13.2% of cases. Neonatal mortality decreased significantly over time for isolated TGA (25.0% vs. 0 p = 0.01). Prenatal diagnosis of both types of TGA did not improve survival. CONCLUSION We demonstrated that prenatal diagnosis and neonatal mortality of TGA varied greatly according to the malformation type and the study period. This could be explained by an improvement in terms of medical management.