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Resume La chirurgie fœtale des myelomeningoceles a ete introduite en France en 2014. Les developpements du diagnostic prenatal des anomalies de fermeture du tube neural ont accompagne les developpements du diagnostic prenatal. Cette chirurgie represente l’un des trois parcours de soins possibles pour les femmes enceintes confrontees a ce diagnostic prenatal. Les enjeux ethiques de cette chirurgie fœtale sont discutes et notamment l’information prenatale et l’autonomie de choix des patientes

The aim of this study was to report a large cohort of fetuses with mild forms of tubulinopathies and to define the prenatal ultrasound and magnetic resonance imaging (MRI) criteria that can facilitate prenatal diagnosis.This was a retrospective multicenter study, conducted from January 2007 to February 2022, of fetuses diagnosed with mild tubulinopathies (without lissencephaly or microlissencephaly). We collected the brain imaging and genetic data and defined major and minor criteria as findings observed in more than 70% and 50% of the patients, respectively.Our cohort included 34 fetuses. The mean gestational age at ultrasound screening and second line neurosonography was 24.2 and 28.3 weeks, respectively. Callosal anomalies (n=19, 56%) and abnormal ventricles (n=18, 53%) were the main reasons for referral. Major ultrasound criteria were midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation. Minor ultrasound criteria were distortion of the cavum septi pellucidi, abnormal corpus callosum, abnormal olfactory sulci, ventriculomegaly and basal ganglia anomalies. Major MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation (more commonly unilateral) and distortion, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation (mainly dysgyria). Minor MRI criteria were abnormal olfactory sulci, abnormal bulge of the pons and brainstem asymmetry. A mutation variant was found in TUBB3 (44.1%), TUBB (23.5%), TUBB2B (14.7%) or TUBA1A (17.7%). It was inherited from one parent in 18/34 patients. The pregnancy was terminated in 23/34 cases.Prenatal diagnosis of mild forms of tubulinopathies is possible but challenging. We have defined, on this large series, major and minor criteria that help identify this entity in utero. Most findings can be suggested on ultrasound. This evaluation is also crucial for better prenatal counselling. Once the prenatal diagnosis of mild tubulinopathy is raised, the family members should be referred for exomic sequencing and MRI. This article is protected by copyright. All rights reserved.

Objective To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury. Methods This was a single-center retrospective analysis of all cases of fetal cerebral anomalies suggestive of COL4A1 or COL4A2 gene mutation over the period 2009-2018. Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesions. These anomalies could be of different ages and associated with schizencephaly or porencephaly. Between fetuses with and those without a mutation, we compared gestational age at the time of diagnosis, parity and fetal gender. Results Among the 956 cases of cerebral anomaly diagnosed in our center during the 10-year study period, 18 fetuses were identified for inclusion. A pathogenic COL4A1 gene mutation was found in five of these cases, among which four were de-novo mutations. A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No COL4A1 or COL4A2 mutation was found in the remaining nine fetuses. The median (interquartile range) gestational age at diagnosis was significantly lower in cases with a mutation (24 (22-26) weeks) than in cases without a mutation (32 (29.5-34.5) weeks) (P = 0.03). Conclusions A phenotype suggestive of cerebral injury was found in 18 of the 956 (1.9%) cases in our population, in 28% of which there was an associated COL4A1 or COL4A2 mutation. COL4A1 and COL4A2 gene mutations should be sought systematically in cases of severe and/or multifocal hemorrhagic or ischemic-hemorrhagic cerebral lesions, with or without schizencephaly or porencephaly. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Introduction Multiple intestinal atresia (MIA) is a rare cause of neonatal intestinal obstruction. To provide an overview of the current prenatal, surgical, and nutritional management of MIA, we report our experience and a literature review of papers published after 1990. Methods All cases of isolated MIA (non-hereditary, not associated with apple-peel syndrome or gastroschisis) treated at our institution between 2005 and 2016 were reviewed and compared with cases found in the literature. Results Seven patients were prenatally suspected of having intestinal obstruction and were postnatally diagnosed with MIA, with a mean 1.7 (1–2) resections–anastomoses (RA) and 6 (1–10) strictureplasties performed, resulting in a mean resected bowel length of 15.1 cm (15–25 cm). Median time to full oral feed was 46 days (14–626 days). All patients were alive and none had orality disorder after a mean follow-up of 3.1 years (0.2–8.1 years). Three surgical strategies were found in the literature review: multiple RA (68%, 34/50) including Santulli's technique in four of 34 (12%) and anastomoses over a transanastomotic tube (32%, 16/50), with a 98% survival rate, and short-bowel syndrome for only two patients. Conclusion Bowel-sparing surgery and appropriate medical management are key to ensuring a favorable nutritional and gastrointestinal outcome and a good prognosis. Prenatal assessment and standardization of the surgical course of treatment remain challenging.

Resume Objectifs Les calcifications intra-abdominales (iA) retrouvees lors d’une echographie obstetricale peuvent etre isolees ou associees a d’autres anomalies. Notre objectif etait d’etudier tous les cas de calcifications iA isolees echographiquement pris en charge dans notre centre, en decrivant leur localisation precise, leur bilan etiologique et l’issue neonatale associee. Methodes Nous avons realise une etude monocentrique retrospective descriptive sur les nouveau-nes ayant eu un diagnostic de calcification iA isolee en echographie de reference antenatale ainsi qu’un avis au centre pluridisciplinaire de diagnostic prenatal a l’hopital Trousseau et nes entre le 1er janvier 2008 et le 30 juin 2018. Les criteres d’exclusion etaient : les calcifications retro-peritoneales, les calcifications iA associees a des anomalies digestives ou autres malformations congenitales. Resultats Les 32 cas de calcifications iA isolees representaient 46 % de toutes les calcifications iA. Apres exclusion de 9 dossiers pour donnees neonatales manquantes, parmi les 23 cas de calcifications isolees, 15 concernaient des calcifications hepatiques, 5 des peri-hepatiques et 2 des peritoneales. Un fœtus etait porteur a la fois de calcifications intra- et peri-hepatiques. La majorite des calcifications sont restees stables tout au long de la grossesse. Aucun cas d’aneuploidie, de fœtopathie infectieuse, ni de mucoviscidose n’a ete retrouve. L’issue neonatale de tous ces enfants a ete favorable. Conclusions En cas de calcification iA paraissant isolee apres echographie de reference et stable sur plusieurs echographies, apres avoir elimine une fœtopathie infectieuse et recherche les mutations les plus frequentes de la mucoviscidose chez les parents, le pronostic est favorable.

Fetal myelomeningocele surgery was introduced in France in 2014. Developments in prenatal diagnosis of neural tube defects have accompanied the development of prenatal diagnosis. This fetal surgery represents one of the three possible care paths for pregnant women faced with this prenatal diagnosis. The ethical issues of this fetal surgery are discussed and in particular regarding prenatal counselling and patient autonomy of choice.

International audience; Objective: To investigate cerebral anomalies other than Chiari type 2 malformation in fetuses with myelomeningocele (MMC).Design: A retrospective cohort study in a single tertiary centre.Setting: A review of associated cerebral anomalies in cases with prenatal diagnosis of myelomeningocele.Population: Seventy cases of fetal myelomeningocele.Methods: Ultrasound and MRI images were blindly reviewed. Postnatal imaging and results of the postmortem results were also reviewed. The association between cerebral anomalies and the following ultrasound findings was measured: level of the defect, ventriculomegaly, microcephaly and fetal talipes.Main outcome measures: A microcephaly was observed in 32/70 cases (46%) and a ventriculomegaly was observed in 39/70 cases (56%). Other cerebral anomalies were diagnosed in 47/70 (67%).Results: Other cerebral anomalies were represented by 42/70 cases with abnormal CC (60%), 8/70 cases with perinodular heterotopia (PNH; 11%), 2/70 cases with abnormal gyration (3%). MRI performed only in fetal surgery cases confirmed the ulltrasound findings in all cases and provided additional findings in two cases (PNH). Risk ratios of fetal cerebral anomalies associated with MMC did not reach significance for microcephaly, ventriculomegaly, talipes or the level of the defect There was an overall good correlation between pre- and postnatal findings with a Kappa value of 0.79 [95% CI 0.57-1] and 82% agreement.Conclusion: Fetal brain anomalies other than Chiari type 2 malformation are frequently observed in fetuses with myelomeningocele, predominantly represented by CC anomalies. Whether these associated cerebral anomalies have an impact on selecting cases eligible for fetal surgery needs further evaluation.Tweetable abstract: Fetal cerebral anomalies other than Chiari type 2 malformation, microcephaly, and ventriculomegaly may be associated with MMC in up to 67% of the cases.

International audience; Myelomeningocele (MMC) is a spinal cord congenital defect that leads to paraplegia, bladder incontinence and bowel dysfunction. A randomized human trial demonstrated that in utero surgical repair of the MMC defect improves lower limb motor function. However, functional recovery remains incomplete. Stem cell therapy has recently generated great interest in the field of prenatal repair of MMC. In this systematic review we attempt to provide an overview of the current application of stem cells in different animal models of MMC. Publications were retrieved from PubMed and Cochrane Library databases. This process yielded twenty-two studies for inclusion in this review, experimenting five different types of stem cells: human embryonic stem cells, neural stem cells, induced pluripotent stem cells, human amniotic fluid stem cells, and mesenchymal stem cells (MSCs). Rodents and ovine were the two major species used for animal model studies. The source, the aims, and the main results were analyzed. Stem cell therapy appears to be a promising candidate for prenatal repair of MMC, especially MSCs. Further explorations in ovine and rodent models, reporting clinical and functional results, are necessary before an application in humans.

Performing a feticide as part of termination of late pregnancy is recommended in many countries. Feticide avoids a live birth of a severely affected premature newborn and prevents fetal pain. There are limited data on feticide procedures since only a few countries in the world authorize late termination of pregnancy. The objective of this review was to assess the most appropriate feticide procedure based on published data during the last thirty years. Administration of an initial fetal analgesia followed by a lethal lidocaine injection through the umbilical cord, under ultrasound guidance, appears to be the most effective, safe and ethical way to perform feticide. According to the current knowledge regarding the risk of fetal pain and survival of extremely preterm infants, a feticide should be discussed as early as 20-22 weeks of gestation.

OBJECTIVE The long-term morbidity associated with isolated left-sided congenital diaphragmatic hernia (CDH) has been described previously. However, antenatal criteria impacting gastrointestinal morbidity (GIM) are not yet defined. The objective of this study was to evaluate the effect of fetal stomach position on the risk of GIM at 2 years of age in children with left-sided CDH. METHODS This was a retrospective, observational multicenter cohort study of data obtained from January 2010 to January 2014, that included patients whose fetus had isolated left-sided CDH, with or without fetal endoscopic tracheal occlusion (FETO). Prenatal maternal, fetal and pediatric data were collected. Fetal stomach position was evaluated a posteriori by two observers, using ultrasound images at the level of the four-chamber view of the heart that had been obtained to calculate the observed-to-expected lung-area-to-head-circumference ratio (O/E-LHR). Fetal stomach position was graded as follows: Grade 1, stomach not visualized; Grade 2, stomach visualized anteriorly, next to the apex of the heart, with no structure in between the stomach and the sternum; Grade 3, stomach visualized alongside the left ventricle of the heart, and abdominal structures anteriorly; or Grade 4, as Grade 3 but with stomach posterior to the level of the atrioventricular heart valves. The primary outcome was GIM at 2 years of age, assessed in a composite manner, including the occurrence of gastroesophageal reflux disease, need for gastrostomy, duration of parenteral and enteral nutrition and persistence of oral aversion. Regression analysis was performed in order to investigate the effect of O/E-LHR, stomach position and FETO on various GIM outcome variables. RESULTS Forty-seven patients with fetal left-sided CDH were included in the analysis. Thirteen (27.7%) infants did not meet the criterion of exclusive oral feeding at 2 years of age. Fetal stomach position grade was associated significantly and independently with the duration of parenteral nutrition (odds ratio (OR), 19.86; P = 0.031) and persistence of oral aversion at 2 years (OR, 3.40; P = 0.006). On multivariate analysis, O/E-LHR was predictive of the need for prosthetic patch repair, but not for GIM. FETO did not seem to affect the risk of GIM at 2 years. CONCLUSION In isolated left-sided CDH, fetal stomach position is the only factor that is predictive of GIM at 2 years of age. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Confrontes au diagnostic d'une maladie grave et incurable chez leur enfant a naitre, un certain nombre de couples choisissent de poursuivre la grossesse avec le souhait de rencontrer l'enfant a la naissance. Cette demarche necessite un accompagnement specifique de la part des equipes perinatales. Cet accompagnement merite d'etre soigneusement prepare et anticipe. Les entretiens successifs ou simultanes avec l'obstetricien, la sage-femme et le pediatre sont rapportes dans un document evolutif souvent nomme « projet de naissance en soins palliatifs » qui a pour but de mettre en parallele les attentes des parents et les possibilites des equipes. C'est un document evolutif, car les attentes des parents peuvent changer avec l'evolution psychologique de la femme enceinte au fil de la grossesse, ainsi qu'a tout changement de la situation maternelle ou fœtale. Les apports des professionnels sont complementaires pour tenter d'anticiper les problematiques obstetricales et les problematiques pediatriques ainsi que leur retentissement reciproque. Ce document se veut garant de la coherence des differentes equipes intervenant successivement dans les periodes antenatale, pernatale et postnatale, ainsi que de la coherence entre equipe referente et equipe de garde. Il est contenant pour les parents et pour les equipes de maternite et de neonatalogie. Enfin, il n'est pas opposable, en ce sens que les actions conduites pendant et apres l'accouchement dependront de la situation reelle de la mere et de l'enfant a ce moment. Dans ces conditions, il s'agit d'un veritable apport a la conceptualisation de la naissance en soins palliatifs, tant pour les futurs parents que pour les equipes.

Infection during pregnancy is common and the developing fetal brain is vulnerable to vertical transmission due to immaturity of the fetal immune system. Infection is a major cause of multiple organ abnormalities, including the neuraxis, due to the neurotropism of the infectious agents. This review sets out to give an overview of fetal infection, review the general principles of the nature and timing of the infectious insult with respect to outcomes, review the neuroimaging of infection by ultrasound and magnetic resonance imaging (MRI), and review the various pathogens involved, including the two most common, cytomegalovirus (CMV) and Toxoplasma, and also other common viral and nonviral infections.

Performing a feticide as part of termination of late pregnancy is recommended in many countries. Feticide avoids a live birth of a severely affected premature newborn and prevents fetal pain. There are limited data on feticide procedures since only a few countries in the world authorize late termination of pregnancy. The objective of this review was to assess the most appropriate feticide procedure based on published data during the last thirty years. Administration of an initial fetal analgesia followed by a lethal lidocaine injection through the umbilical cord, under ultrasound guidance, appears to be the most effective, safe and ethical way to perform feticide. According to the current knowledge regarding the risk of fetal pain and survival of extremely preterm infants, a feticide should be discussed as early as 20-22 weeks of gestation.

OBJECTIVE To measure prospectively apparent diffusion coefficient (ADC) values between 28 and 32 weeks of gestation in different cerebral territories of fetuses with estimated fetal weight (EFW) ≤ 5th centile, and analyze their association with adverse perinatal outcome. METHODS This was a prospective study involving six tertiary-level perinatal centers. In the period 22 November 2016 to 11 September 2017, we included singleton, small-for-gestational-age (SGA) fetuses with EFW ≤ 5th percentile, between 28 and 32 weeks of gestation, regardless of the umbilical artery Doppler and maternal uterine artery Doppler findings. A fetal magnetic resonance imaging (MRI) examination with diffusion-weighted sequences (DWI) was performed within 14 days following inclusion and before 32 weeks. ADC values were calculated in the frontal and occipital white matter, basal ganglia and cerebellar hemispheres. An ultrasound examination was performed within 1 week prior to the MRI examination. The primary outcome was a composite measure of adverse perinatal outcome, defined as any of the following: perinatal death; admission to neonatal intensive care unit with mechanical ventilation > 48 h; necrotizing enterocolitis; Grade III-IV intraventricular hemorrhage; periventricular leukomalacia. A univariate comparison of median ADC values in all cerebral territories between fetuses with and those without adverse perinatal outcome was performed. The association between ADC values and adverse perinatal outcome was then analyzed using multilevel logistic regression models to adjust for other common prognostic factors for growth-restricted fetuses. RESULTS MRI was performed in 64 patients, of whom five were excluded owing to fetal movement artifacts on DWI and two were excluded for termination of pregnancy with no link to fetal growth restriction (FGR). One intrauterine death occurred secondary to severe FGR. Among the 56 liveborn neonates, delivered at a mean ± SD gestational age of 33.6 ± 3.0 weeks, with a mean birth weight of 1441 ± 566 g, four neonatal deaths occurred. In addition, two neonates required prolonged mechanical ventilation, one of whom also developed necrotizing enterocolitis. Overall, therefore, seven out of 57 (12.3%) cases had an adverse perinatal outcome (95% CI, 3.8-20.8%). The ADC values in the frontal region were significantly lower in the group with adverse perinatal outcome vs those in the group with favorable outcome (mean values of both hemispheres, 1.68 vs 1.78 × 10-3 mm2 /s; P = 0.04). No significant difference in ADC values was observed between the two groups in any other cerebral territory. A cut-off value of 1.70 × 10-3 mm2 /s was associated with a sensitivity of 57% (95% CI, 18-90%), a specificity of 78% (95% CI, 63-88%), a positive predictive value of 27% (95% CI, 8-55%) and a negative predictive value of 93% (95% CI, 80-98%) for the prediction of adverse perinatal outcome. A mean frontal ADC value

International audience; Objective Morbidity in fetuses affected by gastroschisis is mainly the result of bowel ischaemic and inflammatory processes. Experimental studies on animal models show that clearing amniotic fluid from the digestive secretions by amnioexchange procedures reduces the inflammatory process. We evaluated the benefit of the amnioexchange procedure for fetal gastroschisis in humans. Design Prospective, interventional, randomised study. Setting Eight referral centres for fetal medicine. Population Pregnant women carrying a fetus with gastroschisis. Methods We compared, in utero, amnioexchange with a sham procedure. The protocol included, in both arms, steroid injections at 30 weeks of gestation and the use of postnatal minimal enteral feeding. Main outcome measures The primary outcome was a composite variable based on the duration of ventilation and parenteral nutrition. Secondary outcomes were the effectiveness and safety of the amnioexchange procedure, including the rate of perinatal death, time to full enteral feeding, primary closure, and late feeding disorders. Results Sixty‐four patients were randomised. There was no difference in the composite criteria between the amnioexchange and control groups. Based on an intention‐to‐treat analysis, there were no significant between‐group differences in pregnancy outcome or complications. When studying the relationship between digestive compounds and amniotic fluid inflammatory markers, a clear correlation was found between bile acid and both ferritin and interleukin 1β (IL1β). Conclusions In humans, amnioexchange, as described in our protocol, is not an option for fetal care; however, we provide supplementary proof of the involvement of inflammation in the pathogenicity of gastroschisis and suggest that future research should aim at reducing inflammation. ClinicalTrials.gov: NCT00127946. Tweetable abstract A prospective, interventional, randomised study shows no benefit of amnioexchange for fetal gastroschisis in humans.

Intra-abdominal calcifications (iAC) detected during fetal ultrasound examinations are characterized by their isolated or associated nature, as well as their location. Our objective was to describe all cases of isolated iAC along with their etiological investigations and neonatal outcome, during a 10-year practice in a referral center.We conducted a retrospective descriptive monocentric study on neonates diagnosed with isolated iAC after antenatal expert ultrasound scan and referred to the Multidisciplinary Center for Prenatal Diagnosis at Trousseau Hospital and born between January 1st, 2008 and June 30th, 2018. The exclusion criteria were: retroperitoneal calcifications, iAC associated with other digestive abnormalities or with congenital malformations.The 32 isolated iAC cases accounted for 46% of all iAC. Nine cases were excluded for missing neonatal data. Among the 23 remaining isolated iAC cases, we observed 15 intra-hepatic calcifications, 5 peri-hepatic and two peritoneal calcifications. One fetus had both intra- and peri-hepatic calcifications. The majority of iAC remained stable throughout pregnancy. No cases of aneuploidy, fetal infection, or cystic fibrosis were detected. The neonatal outcome was favorable in all cases.In case of isolated and stable iAC after expert ultrasound scan, after having ruled out infectious diseases of the fetus and looked for the most frequent mutations of cystic fibrosis in the parents, the prognosis is favorable. Fetal karyotyping is recommended when additional structural anomalies are present.

Purpose The purpose of this study was to compare non-invasive high-spatial-resolution postmortem cardiac magnetic resonance imaging (MRI) and autopsy findings for evaluating the septal insertion of atrioventricular valves in fetuses. Materials and methods Five fetal heart specimens including two normal hearts, one heart with complete atrioventricular septal defect (AVSD) and two hearts with linear insertion of atrioventricular valves (LIAVV; gestational age 17 to 34 weeks) were studied with cardiac MRI using a 4.7 T MRI scanner without sample preparation. Three (3D) and two-dimensional (2D) turbo-RARE (rapid imaging with refocused echoes) sequences in four-chamber and left-ventricular long-axis planes were obtained with a minimal isotropic/in-plane resolution of 156 μm. Nonparametric tests were performed to compare the distance between insertions of medial leaflets of the atrioventricular valves and the inlet/outlet distance ratio between MRI and autopsy findings in normal, complete AVSD and with linear insertion of atrioventricular valves (LIAVV) fetal hearts. Results Despite apparent differences between LIAVV/normal hearts, no significant differences were found between differential insertion of medial leaflets and inlet/outlet distance ratios with both techniques. Very good to excellent reliability between both techniques was found for differential insertion (ICC: 87.2%; 95% CI: −21.7%, 99.1%) (P = 0.963) and inlet/outlet distance ratio (ICC 98.3%; 95%CI: 85.2%, 99.8%) (P = 0.537) measurements. Conclusion Postmortem cardiac MRI could replace autopsy for assessing normal or abnormal septal insertion of atrioventricular valves in fetuses without requiring specific preparation of the heart.

The systematic use of ultrasound during pregnancy aims at birth defect detection. Our objective was to assess the economic efficiency of prenatal ultrasound screening for fetal malformations.We carried out a literature review on Medline via PubMed between 1985 and 2015, from the economic perspective of the prenatal ultrasound screening for fetal malformations.The literature on this subject was sparse and we selected only twelve articles presenting relevant economic data, of which only eight were proper medico-economic studies. We found arguments for the economic effectiveness of ultrasound screening for fetal malformation detection, which is largely linked to the terminations of pregnancies and to the cost of the handicaps "avoided". However, none of the reviewed articles could reach medico-economic conclusions. Additionally, we highlighted various elements making economic analyses more complex in this field: the choice of the method, the uncertainty around two essential parameters (the efficiency of ultrasound and the costs of procedures) and the difficulties to compare or to generalize results. We also noticed important methodological heterogeneity among the studies and the absence of French study.Previously published data are insufficient to assess the economic efficiency of prenatal ultrasound screening for fetal malformations.

Objective To define imaging patterns of unilateral cerebellar hypoplasia (UCH), discuss possible pathophysiological mechanisms and underline the etiology and prognosis associated with these lesions. Methods In this retrospective study we reviewed the charts of 26 fetuses diagnosed between 2003 and 2011 with UCH, defined by asymmetrical cerebellar hemispheres with or without decreased transverse cerebellar diameter. The review included analysis of the anatomy of the cerebellar hemispheres, including foliation, borders and parenchymal echogenicity, and of the severity of the hypoplasia. Data from clinical and biological work-up and follow-up were obtained. Results Our series could be divided into two groups according to whether imaging features changed progressively or remained constant during follow-up. In Group 1 (n = 8), the progression of imaging features, echogenic cerebellar changes and/or hyposignal in T2*-weighted MR images were highly suggestive of ischemic/hemorrhagic insult. In Group 2 (n = 18), imaging features remained constant during follow-up; UCH was associated with abnormal foliation in three proven cases of clastic lesions, a cystic lesion was noted in three cases of PHACE (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac abnormalities/aortic coarctation, eye abnormalities) syndrome and, in the remaining cases, UCH remained unchanged, with no imaging pattern typical of hemorrhage. In 24 cases the infant was liveborn and follow-up was continued in 23, for a mean period of 3 years. Among these, neurological complications were identified in seven (in one of seven (at a mean of 46 months) in Group 1 and in six of 16 (at a mean of 35 months) in Group 2). The surface loss of cerebellar hemisphere was > 50% in 19/24 fetuses and the vermis was clearly normal in appearance in 19/24. Predisposing factors for fetal vascular insult were identified in eight cases: these included maternal alcohol addiction, diabetes mellitus, congenital cytomegalovirus infection and pathological placenta with thrombotic vasculopathy and infarctions. Conclusion UCH is defined as a focal lesion of the cerebellum that may be secondary to hemorrhage and/or ischemic insult, suggesting a clastic origin, particularly when imaging follow-up reveals changes over time. UCH may also be a clue for the prenatal diagnosis of PHACE syndrome. The amount of surface loss of cerebellar hemisphere does not correlate with poor prognosis. UCH with normal vermis is often associated with normal outcome. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

The risk of difficult upper airway access is increased during pregnancy, especially in labor. Changes in upper airway calibre have been poorly studied during pregnancy. The acoustic reflection method is a non-invasive technique that allows a longitudinal assessment of the cross-sectional area of the upper airway from the mouth to carina. We used this technique to evaluate upper airway calibre during normal pregnancy.We conducted a prospective, single centre, observational study with a clinical and upper airway acoustic reflection method evaluation of healthy women during the first, second and third trimesters of pregnancy, and up to two days and one month after delivery.Fifty women participated to the study. The mean pharyngeal cross-sectional area decreased between the first and third trimesters (P0.001) with no significant change of the minimal and mean tracheal cross-sectional areas. The Mallampati score increased during pregnancy between the first and third trimesters (P0.001).Using measurements with the acoustic reflection method, normal pregnancy is associated with a significant reduction in the cross-sectional area of the pharynx and a concomitant increase in the Mallampati score. No change was observed in the minimal and mean tracheal cross-sectional areas.

The aim of our study was to evaluate in utero blood transfusion's (IUT) performed in France, among the French prenatal diagnosis centers in order to study the etiology of severe anemia requiring IUT.We conducted a national retrospective descriptive study between 2011 and 2014. The data were collected using a survey sent by email to all French prenatal diagnosis centers.Among the 49 centers, 18 (38 %) had performed at least one IUT during the study period. The geographical repartition of these centers was appropriate for the "Aquitaine Pyrénées" region. Five centers performed 68 % of the national activity and one center performed 40 % the national activity. Each year, a mean of 204 IUTs were performed in 113 pregnancies. The principal etiology of severe fetal anemia requiring IUT was hemolytic disease of the fetus (69 % of the etiologies) with anti-RhD being the most prevalent antibody. The second etiology was represented by parvovirus B19 infection (17 % of IUTs).The French IUT activity was stable in numbers and indications during the study period. A national register could be set up in order to better evaluate prospectively the number of pregnancies concerned by IUT and to study the prevalence of hemolytic disease of the fetus due to anti-RhD antibodies.

The purpose of this study was to investigate the changes between 2000 and 2006 in pregnancy outcome when a diagnosis of either isolated or associated fetal corpus callosum agenesis (CCA) was made, given that beginning in 2003, the information provided to couples facing this problem related a good prognosis in nearly 80 % of cases of isolated CCA and a poor prognosis in 20 % of cases. We retrospectively analyzed all pregnancies with a fetal diagnosis of CCA between 2000 and 2006 (n=155) and compared two periods: the first group from 2000 to June 2003, the second from July 2003 to 2006. For each group, we analyzed the type of CCA during pregnancy - either isolated or associated - and the outcome of pregnancy. We compared the rate of pregnancy termination before and after 2003 and analyzed the accuracy of the prenatal CCA diagnosis. Of the 155 patients studied, 62 terminated the pregnancy. The overall rate of termination decreased from 31/70 to 31/85. When CCA was said to be isolated prenatally, the rate of pregnancy termination fell from 13/35 to 9/44 (-17 %) (p

La incidencia de cardiopatias congenitas es de aproximadamente el 1% de los recien nacidos vivos; las formas graves suponen el 30-40% de los casos. Son responsables por si solas del 50% de la mortalidad infantil debida a malformaciones. Las cardiopatias congenitas pueden diagnosticarse antes del nacimiento gracias a la ecografia. El diagnostico prenatal de las cardiopatias congenitas permite descartar otras malformaciones, considerar una verificacion del cariotipo fetal y, tras una exploracion de la anatomia cardiaca, estimar el pronostico y las posibilidades de tratamiento posnatal. Cerca del 80% de las cardiopatias congenitas se detecta en periodo prenatal en el grupo de bajo riesgo durante las exploraciones para deteccion de malformaciones, a las 22 o a las 32 semanas de amenorrea (SA). La practica sistematica de los tres cortes de referencia (cuatro cavidades, corte ventriculo izquierdo-aorta, corte ventriculo derecho-arteria pulmonar) hace posible el diagnostico de la mayoria de las cardiopatias congenitas. Para el grupo con mayor riesgo de malformaciones cardiacas (antecedente familiar de cardiopatia congenita, exposicion a toxicos embrionarios, enfermedad materna, translucencia nucal de mas de 3,5 mm en el 1.er trimestre) es posible efectuar la primera verificacion de la anatomia del corazon fetal a las 13-14 SA. En el caso de las cardiopatias aisladas, el diagnostico prenatal permite programar el nacimiento en un centro asistencial especializado y, segun el tipo de cardiopatia, el tratamiento optimo del nino despues del nacimiento.

El crecimiento intrauterino (CIU) es un reflejo fiel del estado de salud fetal. Depende de factores geneticos, del estado nutricional materno, de los factores circulatorios que condicionan el crecimiento y la funcion de la placenta, asi como de factores fetales, sobre todo hormonales (principalmente la insulina y el factor de crecimiento 1 de tipo insulina (IGF-1). La insuficiencia del CIU se clasifica de forma variable: retardo de crecimiento intrauterino (RCIU), que se suele definir como un peso al nacer inferior al percentil 10 de las curvas de referencia para la edad gestacional, hipotrofia fetal, restriccion del crecimiento fetal. Las causas de esta insuficiencia son extrinsecas, sobre todo vasculares, propias del feto o indeterminadas. Ademas de su etiologia, el RCIU plantea un problema obstetrico principal: determinar a partir de que momento el nacimiento del nino constituye la mejor opcion para el en terminos de evolucion perinatal y posterior. En esta dificil situacion, en ausencia de un consenso establecido, el contexto de la gestacion, el grado de desarrollo fetal y la estimacion del peso fetal, la exploracion Doppler, el analisis del ritmo cardiaco fetal (RCF) y el sentido comun son los elementos principales a la hora de tomar la decision. En el periodo neonatal, el recien nacido con RCIU esta expuesto a numerosas complicaciones: respiratorias, nutricionales y digestivas, metabolicas (sobre todo hipoglucemia), hematologicas y neurologicas. A continuacion, debe someterse a una vigilancia atenta de su crecimiento somatico y de su desarrollo neuropsicologico. A largo plazo, esta expuesto a sufrir un sindrome metabolico.

We report a rare case of polymicrogyria diagnosed at 27 weeks' gestation on ultrasound examination and associated with cytomegalovirus (CMV) infection. The ultrasound finding suggesting this diagnosis was the direct visibility of the overfolded cortical ribbon. The cerebral surface was clearly visible because of a markedly enlarged pericerebral space associated with micrencephaly secondary to CMV infection. Bilateral opercular dysplasia was also present. Very few sonographic markers of infectious fetopathy were observed other than periventricular cysts located behind both ventricular horns. Magnetic resonance imaging (MRI) of the fetal brain confirmed the ultrasound findings and also showed the presence of marked micrencephaly, whereas cephalic measurements acquired on ultrasound examination (biparietal diameter and head circumference) were within the normal range. This case emphasizes the complementary roles of sonography and MRI in the prenatal diagnosis of cerebral abnormalities. Moreover, it illustrates the fact that polymicrogyria is easier to diagnose on ultrasound examination during the second trimester, before the development of secondary sulci.

The objective of this study was to establish a simple and reproducible method for the assessment of the fetal head position when measuring crown-rump length (CRL) at the nuchal translucency scan.Two observers conducted a retrospective analysis of a consecutive series of 570 images of CRL collected by the French College of Fetal Echography (CFEF) national practice assessment program for the first-trimester scan. The images were deemed hyper-flexed if no fluid was visible between the chin and the chest of the fetus. The images were deemed hyper-extended if the angle between the palate and the CRL line was 90° or more. The images were deemed neutral if no hyper-extension nor hyper-flexion was observed.The proportion of agreement for a non-neutral position of the fetal head was 91.3% (kappa=0.80, 95% CI [0.75 to 0.86]). Images with a non-neutral position corresponded to poor CRL quality images according to the CFEF score (relative risk=4.2, 95% CI [2.9 to 6.1] for one observer and 4.9, 95% CI [3.3 to 7.2] for the other observer). Proportions of agreement for the hyper-flexion and for the hyper-extension were 94.6% (kappa=0.80, 95% CI [0.72 to 0.87]) and 96.8% (kappa=0.81, 95% CI [0.72 to 0.90]), respectively. No additional lines were drawn on the ultrasound images during the evaluation process.The proposed method for evaluating the extent to which the fetal head has a non-neutral position at measurement of the CRL appears both simple and reproducible.

The objective of this study was to establish a minimum subset of simple criteria for the self-assessment of the quality of first-trimester ultrasound images of nuchal translucency (NT) and crown-rump length (CRL).We designed 162 simplified image-scoring methods (ISM) based on 1, 2, 3 or 4 binary criteria derived from the 8 criteria of the original image scoring method of the French College of Fetal Ultrasound (CFEF). These ISM were assessed on 68,250 consecutive scans of the French national audit conducted by the CFEF on NT and CRL images. The ISM associated with the best precision to identify excellent/reasonable quality scans were selected.Simplified ISM based on 1, 2, 3 and 4 criteria showed maximum positive predictive values of 95.3% (95.11-95.50) 98.0% (97.87-98.14), 99.3% (99.17-99.35) and 99.7% (99.68-99.79), respectively, to identify excellent/reasonable quality scans. The proportion of excellent/reasonable scans was 2.8 to 16.7% when three criteria among the 8 were insufficient, and 0.17 to 3.95% when four criteria were insufficient.The best performing ISM was based on the following four quality criteria: (i) sagittal plane of the NT, (ii) calipers placement for measuring the NT, (iii) image magnification of NT images and (iv) CRL measurement. This score might be the most relevant in clinical practice in the first-trimester screening.

To present the preliminary results of the PRIUM study, a French pilot study of prenatal repair for myelomeningoceles (MMC).The fetal surgery for MMC is offered in cases of patients that did not opt for termination of pregnancy.Thirty-six patients were referred in an 18-month period. Eight patients were not eligible for prenatal repair. Another type of dysraphism was made in 6 cases (one spina-lipoma, 5 cases of limited dorsal myeloschisis). Twenty-two patients were eligible to fetal surgery. A prenatal repair was performed in three cases (14%). Four patients opted for a conventional postnatal treatment. Fifteen patients opted for termination of the pregnancy.The establishment of a prenatal repair of MMC protocol in France was justified. The experience of the first 18months of this study however suggests that only a limited number of couples will choose this procedure after specialized counseling in a reference center.

Objective To compare the probability of prenatal diagnosis (PND) and termination of pregnancy for fetal anomaly (TOPFA) between fetuses conceived by assisted reproductive techniques (ART) and spontaneously-conceived fetuses with congenital heart defects (CHD). Design Population-based observational study. Setting Paris and surrounding suburbs. Population Fetuses with CHD in the Paris registry of congenital malformations and cohort of children with CHD (Epicard). Methods Comparison of ART-conceived and spontaneously conceived fetuses taking into account potential confounders (maternal characteristics, multiplicity and year of birth or TOPFA). Main outcome measures Probability and gestational age at PND and TOPFA for ART-conceived versus spontaneously conceived fetuses. Results The probability of PND (28.1% versus 34.6%, P = 0.077) and TOPFA (36.2% versus 39.2%, P = 0.677) were not statistically different between ART-conceived (n = 171) and spontaneously conceived (n = 4620) fetuses. Estimates were similar after adjustment for potential confounders. Gestational age at PND tended to be earlier for ART fetuses (23.1 versus 24.8 weeks, P = 0.05) but no statistical difference was found after adjustment for confounders. Gestational age at TOPFA was comparable between ART-conceived and spontaneously conceived fetuses. Conclusions In our population, ART conception was not significantly associated with the probability of PND or TOPFA for CHD. One implication of our results is that live births may be adequate for assessing the overall risk of CHD related to ART. However, total prevalence, in particular of severe CHD, would not be adequately assessed if TOPFA are not included.

Objective To investigate the contribution of volume contrast imaging (VCI) in assessing the fetal uterus in normally developed female fetuses. Methods The pelvis of 38 normal female fetuses was examined at 20–22 and 32–34 weeks' gestation using both conventional two-dimensional (2D) ultrasound and VCI on the same transverse or oblique longitudinal view of the fetal pelvis. Two experienced sonographers evaluated the ability of both techniques to image the fetal uterus. Results were compared by kappa index to evaluate the interobserver variability. Results A clear picture of the fetal uterus was obtained in 50% and 82–87% of the cases at 20–22 weeks' gestation and in 80–85% and 95–100% of the cases at 32–34 weeks' gestation using conventional 2D ultrasound and VCI, respectively. There was moderate to good agreement of uterus visualization between the two observers, with kappa values ranging from 0.43 to 0.65. The lower level of agreement was obtained for conventional 2D ultrasound during the second trimester. Conclusions Our results suggest that VCI may be successfully applied to prenatal ultrasonography of the fetal pelvis anatomy. By enhancing the contrast between the intrapelvic organs, VCI provides a clearer picture of the fetal uterus. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.