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Prenatal diagnoses of cystic malformations of the posterior fossa mainly encompass arachnoid cysts, Blake's pouch cysts and Dandy-Walker syndrome. To date, vermian cysts have not been reported prenatally.To report a series of fetuses with a vermian cyst.This was a single-center retrospective study conducted from 2012 to 2021. We included all fetuses presenting with a vermian cyst and excluded all other types of posterior fossa cyst. The cyst was visible at prenatal ultrasound (US) and/or magnetic resonance imaging (MRI). Postnatal imaging and/or clinical outcome data were available.Sixteen fetuses fulfilled the inclusion criteria with a strong female predominance (n=13). US and MRI were performed at a mean gestational age of 29+5 and 33+1 weeks, respectively. In all patients, the cyst was in the vermian horizontal fissure. The mean longest dimension was about 10 mm. The vermis and other posterior fossa structures were otherwise normal. At postnatal imaging, 13 children underwent brain imaging including 11 MRIs with complete regression (n=9), stability (n=1) and increase in size (n=3) of the cyst. Psychomotor development was normal in 14 children. One child (with an inner ear malformation) showed a slight delay in walking and language acquisition. Slight walking ataxia was present in another child.We report 16 fetuses with posterior fossa cysts located within the vermis at the level of the horizontal fissure, diagnosed at US and/or MRI and carrying an overall excellent neurological prognosis.

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

Introduction: we aim to correlate pre-and postnatal data regarding the cleft type and surgical prognostic factors associated to orofacial clefts. Methods: retrospective study concerning all cases of orofacial cleft evaluated prenatally (US+/-MRI) between 2015 and 2020 with available postnatal outcome. We compared prenatal imaging (cleft type and surgical prognostic factors) with postnatal findings. Results: 48 fetuses were included. Median gestational age at first US/MRI examination: 29WG+2D and 31WG+6D respectively. The prenatal diagnosis was in accordance with postnatal findings with regard to the cleft type in 88% of the cases (n=42/48) for US and/or MRI, 84% (n=38/45) for US only and 90% (n=37/41) for MRI only. The nasal septum deviation and nostril collapse were underestimated by prenatal US in 48% (n=12/25) and 44% (n=11/25) of cases respectively (Cohen’s kappa of 0.22 and 0.32 respectively). Pre-and postnatal examinations were in accordance in 75% of cases (n=8) regarding evaluation of anteroposterior maxillary shift in case of unilateral alveolar cleft and in 90% and 80% of cases (n=10) regarding the degree of protrusion/deviation of the premaxillary protrusion in case of bilateral cleft respectively. Conclusion: Prenatal imaging can accurately assess the type of orofacial cleft and evaluate maxillary shift and deviation of the premaxilla. It underestimates the nose deformity.

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.

Renal oligohydramnios (ROH) is caused by bilateral congenital abnormalities, either of renal parenchymal or obstructive origin. ROH is a poor prognostic factor of neonatal survival; lung hypoplasia is reported to be the main cause of mortality. We aimed to describe the fetal morbidity and pre- and postnatal mortality in case of ROH due to renal congenital pathologies and to find predictive risk factors for morbidity and mortality.All data were collected in Trousseau Hospital in the obstetric, neonatology, and pediatric nephrology units, from 2008 to 2020.We included 66 fetuses with renal parenchymal pathologies posterior urethral valves (PUV) (N = 25), bilateral kidney agenesis (N = 10), hypodysplasia (N = 16), and polycystic kidney disease (N = 10) causing oligohydramnios identified on antenatal ultrasound. Total pre- and postnatal mortality was 76% (50/66). Mortality, excepting termination of pregnancy (TOP), was 65%. The presence of pneumomediastinum and pneumothorax was not different in survivors and non-survivors. Fetuses with kidneys having features of hypodysplasia on ultrasound at T2 and those with oligohydramnios before 32 weeks GA had a higher risk of death. There was a significant difference in plasma creatinine of the surviving patients compared to the deceased patients, from day 3 onwards (183 µmol/L [88; 255] vs. 295 µmol/L [247; 326]; p = 0.038).The main differences between survivors and non-survivors among patients with "renal oligohydramnios" were oligohydramnios detection before 32 weeks GA, dysplasia detection on the second trimester ultrasound, and increase of serum creatinine from day 3 onwards. A higher resolution version of the Graphical abstract is available as Supplementary information.

International audience; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC) and nonisolated AbnCC (niAbnCC).Methods: CMA and prenatal trio ES (pES) were done on 65 fetuses with iAbnCC and niAbnCC. Only pathogenic gene variants known to be associated with AbnCC and/or intellectual disability were considered.Results: pES results were available within a median of 21.5 days (9-53 days). A pathogenic single-nucleotide variant (SNV) was identified in 12 cases (18%) and a pathogenic CNV was identified in 3 cases (4.5%). Thus, the genetic etiology was determined in 23% of cases. In all diagnosed cases, the results provided sufficient information regarding the neurodevelopmental prognosis and helped the parents to make an informed decision regarding the outcome of the pregnancy.Conclusion: Our results show the significant diagnostic and prognostic contribution of CMA and pES in cases with prenatally diagnosed AbnCC. Further prospective cohort studies with long-term follow-up of the born children will be needed to provide accurate prenatal counseling after a negative pES result.

A wide range of genitourinary pathologies can be diagnosed in utero, from a simple vesicoureteral reflux to a more complex disorder of sexual differentiation. The prognosis and neonatal management of these conditions differ significantly. Evaluation of the fetal perineal anatomy is paramount to making the right diagnosis. The aim of this pictorial essay is to show sonographers how to acquire a perineal midsagittal view in a male fetus, and to demonstrate how this specific view allows assessment of the urethra and penis, to differentiate various genitourinary pathologies.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. This pathology has been increasingly diagnosed in utero and several sonographic patterns are well described in the literature. To present a series of fetuses with an unusual imaging pattern of ADPKD, mimicking autosomal recessive polycystic kidney disease (ARPKD). We retrospectively reviewed second-line ultrasound (US) scans performed for suspicion of fetal kidney pathology between 2006 and 2018. Inclusion criteria were (1) proven ADPKD on the basis of a known family history and/or of genetic testing and (2) US features suggestive of ARPKD. We recorded the clinical, imaging, genetic and pathological findings in cases with pregnancy termination. Three out of 12 patients with proven ADPKD diagnosed in utero presented with US features suggestive of ARPKD. Furthermore, an additional patient observed at another institution was added to the series. History of familial ADPKD was present in three cases. US showed enlarged kidneys with increased cortical echogenicity, decreased corticomedullary differentiation, multiple medullary cysts and decreased amniotic fluid in all four cases. Pregnancy was terminated in two cases (histology confirmed features in keeping with ADPKD), one premature neonate died (histology in progress) and one child is alive. Genetic testing showed a homozygous mutation of the PKD1 gene in two patients, a heterozygous mutation of the PKD1 gene in one patient and was not performed in the remaining patient. This series describes an unusual sonographic prenatal presentation of ADPKD, not yet well described in the radiologic literature, mimicking ARPKD.

International audience; OBJECTIVE: To evaluate the effects of ionizing radiation exposure during the first trimester of pregnancy in usual clinical situations.STUDY DESIGN: We conducted a prospective observational cohort study using data collected between 1987 and 2014. This database was authorized by the French "Commission Nationale de l'Informatique et des Libertés". The exposed group consisted of 319 pregnant women exposed to sub diaphragmatic ionizing radiations for diagnostic purposes, during the first trimester of pregnancy, and the control group consisted of 319 pregnant women without any exposure or exposed to non-teratogenic agents. Data on maternal history and radiations exposure were collected on first contact, and pregnancy outcomes were documented at follow-up. An univariate analysis was performed to compare both groups for the main outcomes.RESULTS: Exposure to sub diaphragmatic ionizing radiation for diagnosis purpose (median fetal dose of 3.1 mGy [0.2-130.0]) during the first trimester of pregnancy was not significantly associated with an increased risk of malformations (1.5% vs 1.8%, p = 1.00), miscarriage (7.8% vs 7.2%, p = 0.88), in utero fetal death (0.3% vs 0%, p = 1.00) or fetal growth restriction (5.4% vs 3.5%, p = 0.62).CONCLUSION: Pregnant women exposed to irradiant diagnostic procedures do not present a higher risk of malformations, miscarriage, in utero fetal death or fetal growth restriction and should be reassured, even if the examination focused on the pelvis.

Objectives: The aim of the study was to report a subtype of dysraphism designated as myelic limited dorsal malformation (MyeLDM) and to describe its characteristics at prenatal ultrasound (US). Methods: It was a retrospective study from 2014 to 2020 based on second-line US evaluation of patients referred to our institution for myelomeningocele (MMC). Magnetic resonance imaging and acetylcholine esterase evaluation in the amniotic fluid were also offered. Major and minor criteria for open and closed dysraphism were defined and recorded for each patient. Patients were included as MyeLDM when both criteria of closed and open dysraphism were observed in the same fetus. Correlations were obtained with the postpartum data. Results: Twenty patients fulfilled the inclusion criteria, some of them being very close to MMC, others very close to limited dorsal myeloschisis (LDM), and others lying in between. There were 13 live-born neonates and 7 terminations of pregnancy. Correlations between prenatal and postpartum data were overall very good. Conclusion: Our series describe the ultrasonographic characteristics of an intermediate type of dysraphism and suggest that there is a continuum between MMC and LDM with numerous possibilities of hybrid forms (MyeLDM) sharing characteristics of both open and closed dysraphisms.

International audience; Introduction: - Open fetal myelomeningocele (MMC) surgery is currently the standard of care option for prenatal MMC repair. We described the population referred to our center and reviewed outcome after open fetal MMC repair.Material and methods: - All patients referred to our center for MMC were reviewed from July 2014 to June 2020. For all the patients who underwent fetal MMC repair, surgical details, maternal characteristics and data from the neonatal to the three-years-old evaluations were collected.Results: - Among the 126 patients referred to our center, 49.2% were eligible and 27.4% (n=17) of them underwent fetal MMC repair. Average gestational age at fetal surgery was 24+6 weeks. There was no case of fetal complication and the only maternal complication was one case of transfusion. We recorded 70% of premature rupture of membranes and 47% of premature labor. Average gestational age at delivery was 34+2 weeks and no patient delivered before 30 weeks. There was no case of uterine scar dehiscence or maternal complication during cesarean section. After birth, 59% of the children had a hindbrain herniation reversal. At 1-year-old, 42% were assigned a functional level of one or more better than expected according to the prenatal anatomic level and 25% required a ventriculoperitoneal shunt. At 3-year-old, all the children attended school and 75% were able to walk with orthotics or independently.Conclusion: - Open fetal surgery enables anatomical repair of the MMC lesion, a potential benefit on cerebral anomalies and motor function, with a low rate of perinatal and maternal complications.

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.

Background Intrahepatic cholestasis of pregnancy (ICP) is characterised by otherwise unexplained maternal pruritus, increased serum bile acid concentration over 10 μmol/L and spontaneous relief of symptoms and liver abnormalities after delivery. It occurs most frequently during the third trimester and is usually not induced by medication. Besides, azathioprine is recommended as first-line immunosuppressant in patients with steroid-dependent inflammatory bowel disease and is allowed during pregnancy, in order to stabilize maternal disease. Methods We reviewed all cases of ICP between 2010 and 2018 in two French perinatal centers. Results We encountered eight pregnancies complicated by atypical ICP among patients treated with azathioprine. ICP associated with azathioprine appears to be biologically more severe and to occur earlier than "standard" ICP. Furthermore, clinical and biochemical abnormalities related to ICP disappear when azathioprine is discontinued. Azathioprine safety should be reconsidered and practitioners advised to discuss discontinuing this drug as soon as ICP diagnosis is established.

International audience; Folic acid supplementation is recommended for neural tube defect prevention during pregnancy. We conducted an observational, retrospective national registry study to determine the rate of dispensing of periconceptional folic acid after prescription in a sample of French women representative of the general population. Our study population (n = 186,061) was a representative sample of the French population, recorded in the Health Data System database on pharmacy dispensing of medication and mandatory reporting of pregnancy. Between 2006 and 2016, 14.3% of pregnant women had a prescription for folic acid supplementation during the month preceding conception and for the first 12 weeks of pregnancy. Of these prescriptions, 30.9% were issued before the start of pregnancy. This percentage was lower for first pregnancies. The rate of pharmacy dispensing during the preconception period increased progressively from 3.8% to 8.3% between 2006 and 2016. In France, the rate of pharmacy dispensing of periconceptional folic acid after medical prescription is very low and does not follow international recommendations. It seems essential to implement awareness-raising policies targeting the general population and physicians regarding effective periconceptional supplementation, particularly starting in the preconception period. Clarification of international recommendations and fortification of flour could improve the efficacy of folate supplementation at population level.

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.

Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples&mdash, 42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls, overall sensitivity was 88.1% (37/42, CI 75.00&ndash, 94.81) and specificity was 99.3% (145/146, CI 96.22&ndash, 99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies.

A wide range of craniofacial malformations can be diagnosed in utero using ultrasonography. However, even with highly experienced sonographers and diagnostic physicians and optimal conditions of examination, some anatomical structures cannot be properly analyzed by this technique. The aim of this pictorial essay is to show the additional value of fetal magnetic resonance imaging and computed tomography in this setting and to illustrate the role of these modalities in facial clefts; craniosynostosis; ear, eye and nose abnormalities; otomandibular dysplasias; and facial cephaloceles.

Summary Purpose of the study The purpose of our study was to investigate the effects of ovine umbilical cord-derived mesenchymal stromal cells (UC-MSCs) seeded in a fibrin patch as an adjuvant therapy for fetal myelomeningocele repair in the ovine model. Materials and methods MMC defects were surgically created at 75 days of gestation and repaired 15 days later with UC-MSCs patch or an acellular patch. At birth, motor function, tail movements, and voiding abilities were recorded. Histological and immunohistochemical analysis included study of MMC defect's healing, spinal cord, UC-MSCs survival, and screening for tumors. Results Six lambs were born alive in each group. There was no difference between the two groups on the median sheep locomotor rating score but all lambs in the control group had a score between lower than 3 compared to 50% in UC-MSCs group. There were more lambs with tail movements and voiding ability in UC-MSCs group (83% vs 0% and 50% vs 0%, respectively). gray matter area and large neurons density were higher in UC-MSCs group (2.5 vs 0.8 mm2 and 19.3 vs 1.6 neurons/mm2 of gray matter, respectively). Fibrosis thickness at the myelomeningocele scar level was reduced in UC-MSCs group (1269 µm vs 2624 µm). No tumors were observed. Conclusion Fetal repair of myelomeningocele using allogenic UC-MSCs patch provides a moderate improvement in neurological functions, gray matter and neuronal preservation and prevented from fibrosis development at the myelomeningocele scar level.

Resume Objectifs L’un des objectifs majeurs de l’utilisation systematique de l’echographie obstetricale pendant la grossesse est le depistage des malformations fœtales. Notre objectif etait d’analyser l’efficience medico-economique de ce depistage. Methodes Nous avons realise une revue de la litterature a partir de Medline via PubMed, entre 1985 et 2015, sur l’aspect medico-economique du depistage par echographie des malformations fœtales. Resultats La litterature etait tres pauvre sur le sujet et nous n’avons pu retenir et analyser que 12 articles presentant des donnees interessantes pour notre revue, dont huit veritables etudes medico-economiques. Nous avons identifie des arguments en faveur du caractere economiquement pertinent d’un programme de depistage des malformations, ceci etant en grande partie lie a la pratique des interruptions medicales de grossesse et aux couts des handicaps « evites », mais sans pouvoir conclure d’un point de vue medico-economique. Nous avons surtout pu mettre en evidence plusieurs elements compliquant l’application de ces analyses dans ce domaine : le choix du type d’etude, la forte incertitude sur deux parametres essentiels (l’efficacite de l’echographie et le cout des procedures), la difficulte a comparer ou generaliser les resultats. Nous avons aussi constate l’heterogeneite methodologique des etudes et l’absence d’etude francaise. Conclusion Les donnees existantes de la litterature sont actuellement insuffisantes pour evaluer l’efficience medico-economique du depistage des malformations par echographie.

This study aims to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) coverage using a sealed inert patch through a two-port access, in the sheep model. Forty-four fetuses underwent surgical creation of a MMC defect at day 75 and were divided into four groups according to the MMC repair technique, performed at day 90. Group 1 remained untreated. Group 2 had an open surgery using suture of the defect. Groups 3 and 4 underwent defect coverage using a Gore®-polytetrafluoroethylene patch secured with surgical adhesive (Bioglue®), with an open approach (group 3) and a fetoscopic one (group 4). Lambs were killed at term, and histological examinations were performed. Fetoscopic patch coverage was achieved in all the lambs of group 4. All the fetuses of group 2 had a complete closure of the defect whereas only 38% in group 3 and 14% in group 4. Fetal loss rate seems to be lower in group 4 than in groups 2 and 3. Fetoscopic coverage of MMC defect can be performed using a sealed patch through a two-port access, but the patch and glue correction may not be the ideal technique to repair fetal MMC.

Resume Objectifs L’objet de ce travail etait de realiser un etat des lieux des transfusions in utero (TIU) en France au sein des centres pluridisciplinaires de diagnostic prenatal (CPDPN) afin de mieux connaitre les pratiques francaises et d’etudier les indications transfusionnelles. Methodes Il s’agissait d’une etude descriptive nationale francaise portant sur la periode 2011–2014. Les donnees etaient obtenues grâce a un questionnaire rempli via courriel par l’ensemble des coordonnateurs des CPDPN francais. Resultats Parmi les 49 CPDPN, 18 centres (38 %) avaient effectue au moins une TIU avec un maillage correct du territoire metropolitain, a l’exception de la region aquitaine Pyrenees. Une moyenne de 204 TIU etaient realisees par an concernant 113 grossesses. Cinq centres representaient 68 % de l’activite nationale de TIU et un centre effectuait 40 % de l’activite francaise. La premiere cause d’anemie fœtale severe motivant une TIU etait l’incompatibilite fœto-maternelle erythrocytaire secondaire a une allo-immunisation maternelle (69 % des causes de TIU) principalement par allo-immunisation anti-RH1. La deuxieme cause correspondait aux infections materno-fœtales a parvovirus B19 (17 % des TIU). Conclusion L’activite nationale de TIU en France etait stable en nombre et repartition territoriale sur la periode d’etude. La mise en place d’un registre national pour cette activite semble necessaire pour permettre un suivi prospectif du nombre de grossesses concernees notamment pour suivre la prevalence des cas d’allo-immunisation RH1.

BACKGROUND Early pregnancy ultrasound scans are usually performed by nonexpert examiners in obstetrics/gynecology (OB/GYN) emergency departments. Establishing the precise diagnosis of pregnancy location is key for appropriate management of early pregnancies, and experts are usually able to locate a pregnancy in the first scan. A decision-support system based on a semantic, expert-validated knowledge base may improve the diagnostic performance of nonexpert examiners for early pregnancy transvaginal ultrasound. OBJECTIVE This study aims to evaluate a novel Intelligent Scan Assistant System for early pregnancy ultrasound to diagnose the pregnancy location and determine the image quality. METHODS Two trainees performed virtual transvaginal ultrasound examinations of early pregnancy cases with and without the system. The ultrasound images and reports were blindly reviewed by two experts using scoring methods. A diagnosis of pregnancy location and ultrasound image quality were compared between scans performed with and without the system. RESULTS Each trainee performed a virtual vaginal examination for all 32 cases with and without use of the system. The analysis of the 128 resulting scans showed higher quality of the images (quality score: +23%; P CONCLUSIONS The Intelligent Scan Assistant System is based on an expert-validated knowledge base and demonstrates significant improvement in early pregnancy scanning, both in diagnostic performance (pregnancy location and precise diagnosis) and scan quality (selection of images, confidence, and image quality).

Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 45 - N° 7 - p. 738-744

To compare in utero exchange transfusions (IUET) and in utero simple transfusions (IUST) for the treatment of fetal anemia resulting from red blood cell fetomaternal incompatibility.Retrospective comparative study from January 2006 through December 2011. The two techniques were compared for effectiveness, complications, and neonatal outcomes.36 patients had 87 IUETs and 85 patients 241 IUSTs. Gestational age at the first transfusion was similar in both groups (IUET: 27±3.8 weeks; IUST: 27±4.7 weeks; NS) as was the initial fetal hemoglobin level (IUET: 6.4±2.8g/dL; IUST: 6.0±2.5g/dL; NS). No significant differences were noted for postprocedure complications or efficacy. The daily drop in hemoglobin level was similar in both groups (IUET: 0.41±0.23g/dL/day; IUST: 0.44±0.17g/dL/day; NS) as were the time intervals between two procedures. Gestational age at birth was earlier in the IUET group (34.4±1.3 weeks vs 35.5±1.8 weeks; p0.001), but the postnatal transfusions or exchange transfusions rates and the duration of intensive phototherapy did not differ. No significant differences were noted for the overall survival rates (IUET: 100%; IUST: 96.4%; p0.99).IUET does not appear to provide any benefits compared with IUST, neither to be associated with a higher complication rate. The choice of the technique depends on availability of packed blood cells with high hematocrit (70-80%).

Background Our purpose was to describe and compare the cranial and extracranial abnormalities of Pfeiffer syndrome on prenatal imaging with postnatal or postmortem findings, which may help in prenatal diagnosis of Pfeiffer syndrome (PS). Methods Cases of fetuses with a confirmed diagnosis of PS over a 4-year period (2012-2016) were retrospectively reviewed. Prenatal imaging findings, postnatal, or postmortem investigations and genetic test results were analyzed. Results Four fetuses were ascertained, 3 with prenatal sonographic findings compatible with PS and one only diagnosed at postmortem. Cases were referred between 22 and 24 weeks' gestation. Three of the 4 cases were terminated, and details of postmortem/postnatal examination were available in all. There was variable presentation of features. Craniosynostosis was present in 3 cases, but only detected prenatally in 2. Extracranial signs included abnormalities of thumbs and/or big toes, detected prenatally in 3 of the 4 cases. A sacral appendage and vertebral or coronal clefts were present at postmortem in 3 cases but only detected prenatally in one. A cartilaginous tracheal sleeve was detected at postmortem in all 3 cases but not detected by prenatal ultrasound. Other findings included ventriculomegaly, posterior fossa, and facial anomalies. Molecular testing revealed mutations of the fibroblast growth factor receptor 2 (FGFR2) gene in all cases. Conclusion Pfeiffer syndrome has a highly variable phenotype, and the absence of craniosynostosis on prenatal US does not exclude the diagnosis. Presence of abnormal thumbs and big toes, a sacral appendage, vertebral fusions, and coronal clefts should lead to prenatal molecular testing for PS.

Objective: The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) repair with a running single suture using a 2-port access in the sheep model. Methods: Eighteen fetuses underwent surgical creation of a MMC defect at day 75. Fetuses were then randomized into 3 groups. Four fetuses remained untreated (control group). In the other 14 fetuses, a prenatal repair was performed at day 90: 7 fetuses had an open repair (oMMC), and 7 fetuses had a fetoscopic repair (fMMC) using a single-layer running suture through a 2-port access. Lambs were sacrificed at term, and histological examinations were performed. Results: Hindbrain herniation was observed in all live lambs in the control group. A complete closure of the defect was achieved in all the lambs of the fMMC group. A complete healing of the defect and no hindbrain herniation were observed in all live lambs of the oMMC and fMMC groups. The durations of surgeries were not statistically different between the oMMC and the fMMC groups (60 vs. 53 min, p = 0.40), as was the risk of fetal loss (fMMC: 1/7, oMMC: 3/7, p = 0.56). Discussion: Fetoscopic repair of MMC can be performed using a single-layer running suture through a 2-port access and may be promising to reduce the risk of premature rupture of membranes.

Introduction We have developed a new knowledge base intelligent system for obstetrics and gynecology ultrasound imaging, based on an ontology and a reference image collection. This study evaluates the new system to support accurate annotations of ultrasound images. We have used the early ultrasound diagnosis of ectopic pregnancies as a model clinical issue. Material and methods The ectopic pregnancy ontology was derived from medical texts (4260 ultrasound reports of ectopic pregnancy from a specialist center in the UK and 2795 Pubmed abstracts indexed with the MeSH term “Pregnancy, Ectopic”) and the reference image collection was built on a selection from 106 publications. We conducted a retrospective analysis of the signs in 35 scans of ectopic pregnancy by six observers using the new system. Results The resulting ectopic pregnancy ontology consisted of 1395 terms, and 80 images were collected for the reference collection. The observers used the knowledge base intelligent system to provide a total of 1486 sign annotations. The precision, recall and F-measure for the annotations were 0.83, 0.62 and 0.71, respectively. The global proportion of agreement was 40.35% 95% CI [38.64–42.05]. Discussion The ontology-based intelligent system provides accurate annotations of ultrasound images and suggests that it may benefit non-expert operators. The precision rate is appropriate for accurate input of a computer-based clinical decision support and could be used to support medical imaging diagnosis of complex conditions in obstetrics and gynecology.

Les allo-immunisations erythrocytaires restent la premiere cause d’anemie fœtale, pathologie rare, mais dont les consequences peuvent etre particulierement graves, a type d’anasarque fœtale, de lesions neurologiques fœtales hypoxiques et, au pire, de mort fœtale ou neonatale. Les incompatibilites RhD sont toujours les plus frequentes, suivies des incompatibilites Kell et petit c. La decouverte d’une anemie fœtale severe peut conduire a la realisation d’une transfusion fœtale intravasculaire en cas de terme precoce et/ou d’anasarque, a une extraction fœtale lorsque l’âge gestationnel est avance, compatible avec une prematurite moderee, et a une eventuelle transfusion fœtale intraperitoneale a des âges gestationnels tres precoces. Les transfusions fœtales intravasculaires ont transforme le pronostic de l’anemie fœtale et sont considerees aujourd’hui comme un geste relativement sur. Le risque de complication letale liee au geste est estime a pres de 3 %, ce qui reste important dans les cas d’anemie fœtale de survenue tres precoce, necessitant de repeter le geste transfusionnel jusqu’a cinq ou six fois au cours d’une meme grossesse. Le pronostic depend egalement en grande partie de la precocite du diagnostic d’anemie et de son traitement. Le risque de deces et de complications neurologiques fœtales est plus eleve lorsque le diagnostic est fait au stade d’anasarque qu’en cas d’anemie isolee.

To investigate and compare the views and experience of undergraduate medical students concerning two methods used in the teaching of pelvic and breast examinations: a video clip and a training model.Following the teaching sessions, the students (n=79; female 67%; median age 20; students' grade level: 2nd study year (87%) and 3rd study year (13%)) completed a satisfaction questionnaire, which included items related to the pedagogical value of these two different types of tool.Most of the students ranked their own satisfaction in each teaching session as either very satisfied or satisfied: the median rating was 3 or 4 for each item. For their satisfaction with the pedagogical tools, in terms of the degree to which they contributed toward practical knowledge of the examination procedures, the students rated the video clip with a higher degree of satisfaction than the training model, for both breast (very satisfied 73% vs. 40%, satisfied 27% vs. 43%, unsatisfied 0% vs. 7% (P0.001)) and pelvic examinations (very satisfied 57% vs. 33%, satisfied 39% vs. 66%, unsatisfied 4% vs. 1% (P0.004), respectively.Teaching sessions for pelvic and breast examination, which make combined use of videos and training models, are associated with a high degree of satisfaction from students in their 2nd or 3rd student's year.

Objective To compare perinatal outcomes of twin pregnancies after oocyte donation (OD), in vitro fertilization (IVF) with autologous oocyte (AO), and non-IVF conception. Design Five-year retrospective cohort study. Setting Tertiary university medical center. Patient(s) All patients with twin pregnancies who gave birth after 24 weeks of gestation. The outcomes of 102 OD twin pregnancies were compared with those of 201 AO and 369 non-IVF twin pregnancies. Intervention(s) None. Main Outcome Measure(s) Obstetrical complications (pregnancy-induced hypertensive disorders, gestational diabetes, cholestasis, preterm rupture of membranes, mode of delivery, and postpartum hemorrhage) and neonatal outcome (preterm birth, low birth weight, neonatal hospitalization, and perinatal mortality). Result(s) There was an increased incidence of preeclampsia (OD 26.5%, AO 7.0%, non-IVF 8.7%) and postpartum hemorrhage (OD 23.5%, AO 12.4%, non-IVF 7.6%) in the OD group compared with the AO and non-IVF groups. After adjustment for confounding factors, including maternal age and chorionicity, the risk of preeclampsia remained higher in the OD group, as did the risk of postpartum hemorrhage. The OD group was not at higher risk than the AO and non-IVF groups for other complications, particularly for preterm birth or low birth weight. Conclusion(s) OD twin pregnancies are associated with a higher risk of preeclampsia and postpartum hemorrhage than AO and non-IVF twin pregnancies.

OBJECTIVE: To describe a new grading method for stomach position (SP) in fetuses with left-sided congenital diaphragmatic hernia (L-CDH) using ultrasound and to correlate SP to liver position and to liver-to-thoracic cavity volume ratio (LiTR) using magnetic resonance imaging. METHODS: SP were graded at the level of the 4-chamber view as following: grade 1-to-4 for stomach not visualised, visualised anteriorly at the apex of the heart, stomach showing abdominal structures anteriorly and stomach with its larger part posterior to the level of the atrial-ventricular heart valves, respectively. The LiTR was calculated and correlated to SP using the Mann-Whitney U test. RESULTS: Seventy-four fetuses were included. Median LiTR for grade 1 SP was 0% and was not different from median LiTR for grade 2 SP (0%, p=NS). Median LiTR for grade 3 SP was 14.9% and was significantly higher than for grade 2 SP (p

The prevention of Chiari type II malformation (CM) is commonly used as a primary outcome for the evaluation of techniques of fetal myelomeningocele (MMC) surgery in the fetal lamb. The aim of our study was to investigate the frequency of the associated CM in the MMC fetal sheep model and to investigate the contribution of prenatal ultrasound evaluation of CM at the time of prenatal repair. A MMC-like lesion was surgically created at 75 days of gestation in 21 fetuses performing a L1–L5 laminectomy followed by an excision of the exposed dura and a midline myelotomy. At a 90-day gestation, among the 19 alived fetuses, a conventional repair of the MMC-like lesion was performed in seven, four of whom underwent cerebral ultrasound (US) examination before the repair. Twelve fetuses remained untreated (control group). All fetuses underwent post-mortem examination (PM) at 138 days. At a 90-day gestation, CM was demonstrated by US examination in all four evaluated fetuses. At birth, CM was found in 3/6 control whether CM was absent in all alived fetuses in the prenatal repair group (n = 4). Creation of a MMC-like lesion with an additional myelotomy does not always lead to hindbrain herniation. Our study suggests that CM should be assessed by ultrasound examination at the time of the prenatal repair to demonstrate the effectiveness of new techniques for the prenatal repair of MMC.