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Background: Medical termination of pregnancy (MTP) is done because of medical conditions concerning the fetus - i.e. cardiac pathology, central nervous system malformation, genetic disorders. . .- or the mother, without any delay of restriction. In 2019, 6 848 MTP were performed in France. Prenatal diagnosis organization:MTP is part of a process initially of screening and then of prenatal diagnosis through an obstetric ultrasound. Amedical framework is necessary in order to respect all the different stages allowing a global approach for parents. Given its complexity and in order to avoid any drift, MTP is regulated by a legislative framework which has evolved over time. Deciding factors and prenatal diagnosis limits:MTP decision supposes a progressive way starting by the announcement of fetal malformation or severe maternal pathology. Intrinsic and extrinsic factors will have an impact on the patient's reflecting process and will raise many questions concerning prenatal diagnosis limits. Limits concern both the patient and the medical team. They can be due to ethical or eugenic considerations. Other factors such as the understanding of the language, the socioeducational level, the different socio-economic evolutions or even the religion will have a direct impact on the ability of the patient to decide in full awareness of the outcome of the pregnancy. Finally, another limitation relates to the sometimes fine line between voluntary termination and medical termination of pregnancy. Conclusions: MTP is a complex process which leads to wonder about life and death rights both by the request of the couple and by the acceptance of the multidisciplinary team. MTP is legally regulated in a non-exhaustive way, leaving room for the evolution of medicine, thus making it possible to adapt to each situation. MTP is and must remain a last resort for patient management. MTP must constantly be at the center of ethical debates with a continuous questioning to avoid falling in eugenic practices. Hence the importance to maintain a degree of liberty with a rigid framework. [ABSTRACT FROM AUTHOR]

La transposition des gros vaisseaux est une cardiopathie congénitale cyanogène qui se manifeste en période néonatale par une cyanose sans détresse respiratoire, réfractaire à l'administration de l'oxygène. Elle nécessite toujours une prise en charge urgente avec un transfert rapide vers un centre expert. Dans la majorité des cas, le diagnostic est fait en prénatal permettant l'organisation de la naissance dans un centre susceptible de pratiquer une atrioseptostomie de Rashkind à tout moment. La prise en charge médicale préopératoire repose sur l'administration des prostaglandines et la manœuvre de Rashkind pour optimiser le mélange entre les deux circulations parallèles et donc l'oxygénation tissulaire. Le switch artériel est l'opération de choix habituellement réalisée dans les premières deux semaines de vie. L'intervention rétablit l'anatomie en remettant les gros vaisseaux au-dessus de leurs ventricules appropriés. La mortalité postopératoire est essentiellement liée aux problèmes de réimplantation coronaire dans des distributions complexes notamment celles avec un trajet intramural. Globalement, les résultats postopératoires et le pronostic fonctionnel à long terme sont excellents. Un sujet de préoccupation est l'émergence des troubles du développement neuropsychologique dans certains domaines d'apprentissage chez les enfants et adolescents opérés d'une transposition. Les enfants concernés nécessitent une prise en charge pluridisciplinaire en fonction de leurs déficits. This article aims to update general practitioners and pediatricians on neonatal management of transposition of the great arteries. This cardiac defect always requires urgent postnatal management and transfer to a tertiary care center. In France, prenatal detection rates are high reaching 80–90% in some regions. Prenatal diagnosis allows for scheduling of delivery in a specialist center with the possibility to perform a Rashkind manoeuvre at any time. Medical preoperative management relies on prostagladin infusion and Raskind manoeuvre in order to obtain a sufficient mixing of the two parallel circulations. Ideally minimal efficient doses of prostaglandin should be administered to obtain ductal patency with little side effects. The arterial switch is the surgery of choice mostly performed in the first two weeks of life. This intervention restores physiological anatomic conditions in putting the great arteries at their respective place on the appropriate ventricle. During the procedure the coronary arteries are reimplanted in the neoartic root. Postoperative morbidity and mortality are mostly due to complications after reimplantation of complex coronary pattern, especially those with an intramural course. In general, the postoperative results after arterial switch and the long-term functional prognosis are excellent. A recent concern lies in the growing detection of learning difficulties and altered neuropsychological development in some operated children and adolescents. Children with specific needs should benefit from early pluridisciplinary support. [ABSTRACT FROM AUTHOR]

The living fetus has become object of study of medicine only recently, i.e., since the 1960s. The development of prenatal testing and diagnosis has allowed couples and pregnant women to be offered tests that are designed to identify serious in utero conditions, that is, conditions that are considered as incurable at the time of diagnosis. The scientific advances in prenatal diagnosis have also given rise to serious ethical reflections. Jonathan Glover makes a major contribution to this reflection by emphasising the importance of taking into account both the direct consequences and the 'side-effects' of a particular practice. This paper first discusses Glover's perspective on the development of prenatal diagnosis, which he developed over the course of several decades, and focuses then on our current context which is characterized by a so-called "non-invasive" prenatal testing and the development of genomics. Using Glover's approach, which pays particular attention to the effects of a decision, this paper identifies ethical issues that are particular to our time. The paper concludes that prenatal testing, despite being "non-invasive" from a biological point of view, still raises many ethical issues. [ABSTRACT FROM AUTHOR]

Résumé Objectif L’annonce d’un diagnostic de pathologie fœtale représente pour les couples une situation très difficile, voire traumatogène. La présente étude a porté sur le vécu après l’annonce du diagnostic prénatal d’une pathologie fœtale dans un échantillon français constitué par des femmes enceintes et leurs conjoints. Méthode L’étude a été réalisée auprès de 12 couples hétérosexuels ayant reçu l’annonce du diagnostic d’une pathologie chez le fœtus et qui ont poursuivi la grossesse après le diagnostic. Résultats Les femmes enceintes ont obtenu des scores d’anxiété et d’attachement prénatal au bébé plus élevés que les futurs pères. Pour les femmes enceintes, l’attachement adulte évitant était associé à la plupart des variables psychologiques évaluées. L’attachement adulte évitant a aussi été important pour l’ajustement psychologique des futurs pères mais seulement en ce qui concerne la qualité de la relation conjugale. La détresse psychologique et la qualité de vie étaient négativement associées pour les femmes enceintes et pour les futurs pères. Conclusion L’utilisation de stratégies adaptatives de régulation affective par chaque membre du couple est un facteur de protection important de l’ajustement individuel et conjugal pendant la période périnatale, surtout dans des situations spécifiques, tel le diagnostic d’une pathologie fœtale. Objectives Expectant parents go through a complex and multidimensional experience when the diagnosis of a fetal anomaly is disclosed. This experience incorporates a traumatogenic dimension, regardless of the degree of the illness. The present study aimed to explore the subjective experience of pregnant women and their partners after the disclosure of a fetal anomaly during pregnancy. Materials and methods Twelve heterosexual couples participated in this study. All couples received the diagnostic of a fetal anomaly during the third trimester of pregnancy and decided to continue pregnancy. Three to six weeks after the disclosure of the fetal anomaly pregnant women and expectant fathers completed a questionnaire booklet. Participants completed, among others, the French version of Experiences in Close Relationships (ECR – Brennan et al., 1998), Dyadic Adjustment Scale (DAS – Spanier, 1976), WHOQOL-BREF (WHO, 1991), Hospital Anxiety and Depression Scale (HADS – Zigmond and Snaith, 1983) and Maternal/Paternal Antenatal Attachment Scale (MAAS/PAAS – Condon, 1993). Results Pregnant women obtained significantly higher scores than expectant fathers in parental prenatal attachment and anxiety. For pregnant women, avoidant adult attachment was associated with most of the psychological variables. Avoidant adult attachment was also important for psychological adjustment of expectant fathers but only in what concerns marital quality. Psychological distress and quality of life were negatively associated in both pregnant women and expectant fathers. Conclusions The use of adaptive strategies for affective regulation by both members of the couple after the diagnosis of a fetal anomaly is an important protection factor of individual and marital adjustment. Hence, perinatal health research must consider not only the pregnant women but also the expectant father, mainly in such specific situations as the prenatal diagnosis of a fetal anomaly. The development of the present study will allow to better knowing protection and risk factors in what concerns psychological adjustment of expectant parents to the prenatal diagnosis of a fetal anomaly. [ABSTRACT FROM AUTHOR]

Résumé La thrombopénie fœtale et néonatale allo-immune (TFNAI) est considérée comme une maladie rare du fait de sa faible incidence (1/1000 à 1/2000 naissances). La complication majeure est l’hémorragie intracrânienne (HIC) et les séquelles neurologiques qui en découlent. Le développement des techniques sérologiques et l’avènement de la biologie moléculaire a révolutionné le diagnostic biologique. L’immunisation anti-HPA-1a représente la majorité des cas de TFNAI avec un taux de récurrence élevé des complications sévères hémorragiques. La prise en charge thérapeutique a évolué au cours des années passant d’un concept très invasif associant prélèvement de sang fœtal et transfusion plaquettaire in utero à un traitement anténatal non invasif par injection d’immunoglobulines intraveineuses (IgIV). Cet article a pour but de faire un point de la prise en charge actuelle au regard des évolutions depuis les 30 dernières années. Fetal and neonatal allo-immune thrombocytopenia (FNAIT) is considered as a rare disease due to the incidence (1/1000–1/2000 births). The major complication of severe thrombocytopenia is bleeding and particularly intra-cranial hemorrhage and neurologic sequelae following. Serology and molecular biology developments have reconfigured the platelet immunology diagnosis. Anti-HPA-1a allo-immunisation is responsible for more than 80% FNAIT cases with a high recurrence rate of severe bleeding complications. Therapeutic management has changed over the coming years from an invasive concept associating fetal blood sampling and in utero platelet transfusion to a non invasive treatment by intravenous immunoglobulins injection (IVIg). The purpose of this article is to provide an update on FNAIT management in the light of current developments over the past 30 years. [ABSTRACT FROM AUTHOR]

Since its discovery, in the late 1990s, free fetal circulating DNA in maternal plasma has enabled the development of noninvasive prenatal tests. Among tests used in current practice, fetal sex determination and RHD genotyping are diagnostic tests based on the detection of sequences usually absent in maternal genome. Noninvasive detection of trisomy 21 is a high-performance screening test based on chromosome counting by next-generation sequencing. These tests contribute to improve the quality of care by reducing the number of invasive fetal sampling and iatrogenic miscarriages, and allowing better targeting of therapeutic treatment. However, their limits should be taken into account, namely the proportion of fetal circulating DNA in plasma (fetal fraction), the trophoblastic origin of fetal DNA, and the possible interference of maternal genome. [ABSTRACT FROM AUTHOR]

Résumé Objectif Les anomalies du développement maxillofacial concernent 1 pour 700 naissances. Environ 30 % des diagnostics anténatals (fentes du palais primaire isolée associée ou non à une atteinte du palais secondaire) sont corrigés en postnatal. Cette étude observationnelle rétrospective a pour but d’analyser la corrélation entre le dépistage échographique et l’aspect postnatal dans le cadre des fentes toutes confondues, en comparant les données anté- et postnatales. Méthodes Tous les enfants nés entre le 1er décembre 2009 et le 31 janvier 2014 dans un centre de référence de diagnostic anténatal et présentant une fente du palais primaire et/ou secondaire ont été inclus. Les malformations associées à une fente ont été exclus. Une comparaison a été réalisée entre les données anténatales selon les comptes rendus d’échographie et celles postnatales décrites par le chirurgien maxillofacial lors de la chirurgie. Résultats Quarante-quatre enfants ont été inclus et 3 exclus en raison d’une anomalie associée. Parmi ces 41 enfants, 27 enfants ont bénéficié d’un dépistage. Le diagnostic échographique et clinique était identique pour 23 cas (85,2 %) et inexact pour 4 patientes (14,8 %). En cas d’atteinte du palais primaire un diagnostic anténatal a été réalisé pour 19 cas sur 21 (90,5 %), mais seulement 8 sur 20 si l’atteinte concernait uniquement le palais secondaire (42,1 %) dont 7 avec une séquence de Pierre-Robin. Discussion La sensibilité du dépistage anténatal des fentes du palais primaire et secondaire augmente ces dernières années avec un taux de 85,2 % dans notre série. Par contre, pour les fentes du palais secondaire seules, la caractérisation semble être plus difficile et l’échographie 3D n’améliore pas toujours la performance du dépistage. Conclusion L’échographie 2D semblerait suffisante pour le dépistage de la fente du palais primaire et secondaire. L’échographie 3D pourrait être utile pour une meilleure représentation de la fente pour les futurs parents. Un même langage concernant la classification des fentes, faciliteraient l’harmonisation des comptes rendus et une meilleure compréhension entre les professionnels. La présence du chirurgien maxillofacial en salle d’échographie, permettrait à l’échographiste d’orienter son échographie de façon précise, voire d’améliorer sa courbe d’apprentissage. Objectives Anomalies of the maxillofacial development concern 1 for 700 births. About 30 % of prenatal diagnoses of isolated primary cleft palate or associated with a cleft of secondary palate will be corrected in postnatal. This retrospective observational study was designed to compare the antenatal data and postnatal diagnosis regarding a series of clefts. Materials and methods All children born between 1 December 2009 and 31 January 2014 in a prenatal diagnostic reference center and having a cleft palate were included. Newborns with an abnormality associated with the cleft were excluded. A comparison was made between the data in the antenatal ultrasound reports and postnatal those described by the surgeon during surgery. Results Forty-four children were included and three infants were excluded due to associated anomalies. Of those 41 children, 27 children have been screened. Ultrasound and clinical diagnosis was the same for 23 cases (85.2 %) and inaccurate for 4 patients (14.8 %). In case of primary cleft palate prenatal diagnosis was performed to 19 cases of 21 (90.5 %), but only 8 of 20 if only secondary cleft palate (42.1 %) including 7 with a Pierre-Robin sequence. Discussion Antenatal screening sensitivity of primary and secondary cleft palate increase in recent years with a rate of 85.2 % in our series. By contrast, diagnosis of isolated secondary cleft palate seems to be more difficult and 3D ultrasound does not always improve screening performance. Conclusion Ultrasound 2D seem sufficient for screening of primary and secondary cleft palate. The 3D ultrasound may be useful for a better representation of the cleft for future parents. The same language concerning the classification of the clefts facilitates harmonization of reporting and understanding between professionals. The presence of the maxillofacial surgeon ultrasound room would allow the sonographer to direct its ultrasound accurately or improve its learning curve. [ABSTRACT FROM AUTHOR]

Résumé Objectif Le syndrome de Beckwith-Wiedemann (SBW) est le syndrome d’excès de croissance congénitale le plus fréquent avec une incidence de 1/13 700 naissances. Son diagnostic est le plus souvent réalisé après la naissance. Il prédispose à un risque élevé d’hypoglycémie en postnatal immédiat et de tumeurs embryonnaires. Le but de ce travail est d’identifier les signes d’appel échographique en anténatal devant alerter tout échographiste afin de permettre une meilleure prise en charge périnatale. Méthodes Il s’agit d’une étude rétrospective concernant une série de 14 cas de SBW de diagnostic périnatal dont 4 diagnostics évoqués en anténatal. Les signes échographiques décrits en anténatal ont été analysés et comparés aux signes cliniques de la période postnatale. Résultats Les signes majeurs le plus souvent rapportés étaient représentés par la macrosomie pour 71,4 % des enfants avec une augmentation du périmètre abdominal et la macroglossie pour 78,6 %. Les signes mineurs étaient divers mais avec 64 % de viscéromégalie (néphromégalie et/ou hépatomégalie), 50 % d’hydramnios et pour 80 % d’enfants de sexe masculin une anomalie génitale (cryptorchidie et/ou hypospade). Conclusion Cette étude a permis d’identifier certains signes échographiques anténataux devant alerter le clinicien vers un diagnostic de SBW. Un conseil génétique, après confirmation par biologie moléculaire, pourrait être proposé dans un avenir plus au moins proche en prénatal, et cela afin d’améliorer la prise en charge de ces enfants à risque néonatal. Objectives Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome and has an incidence of 1/13,700. The majority of the cases are diagnosed after birth. Patients with BWS have an increased risk of neonatal hypoglycemia and embryonal tumors development in childhood. We wanted to identify the ultrasound signs that must alert physicians to prepare best perinatal management strategies. Methods We conducted a retrospective study of a population of 14 cases of BWS diagnosed in perinatal period; four of them were detected prenatally by ultrasound. The anomalies signs described in prenatal were analyzed and compared with the clinical features of the postnatal period. Results The major features reported were represented by macrosomia for 71.4% with an increase of abdominal circumference, and macroglossia for 78.6%. The minor features were various with 64% of visceromegaly (nephromegaly and/or hepatomegaly), 50% of hydramnios and for 80% of male children a genital anomaly (crytorchidism and/or hypospadias). Conclusion This study identified some prenatal ultrasound signs that should alert the clinician to the possibility of BWS. A genetic conseling, after confirmation by molecular diagnosis, could be proposed in a near future in prenatal, and could improve postnatal management strategies for these affected children at high postnatal risk. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis of disorder of sex development (DSD) aims at defining whether malformation is isolated or not and at determining the etiology depending on clinical background, hormonal and genetic tests. Diagnostic approach must be multidisciplinary. Congenital Adrenal Hyperplasia (CAH) is one of the leading causes of DSD in females. Management of pregnancies at risk is well standardized in France, which is based on fetal sex determination in maternal serum and prenatal treatment with dexamethasone. [ABSTRACT FROM AUTHOR]

Résumé Objectifs Les images kystiques abdominales du premier trimestre de la grossesse sont rares et de pronostic indéterminé. Le but de cette étude est d’en évaluer le devenir. Méthodes Le collège français d’échographie fœtale a mené une étude prospective observationnelle de 24 mois, avec un recueil de tous les cas d’images kystiques abdominales découvertes à l’échographie de dépistage du premier trimestre, à l’exclusion des cas de méga-vessie. L’imagerie initiale, le suivi par les centres pluridisciplinaires de diagnostic prénatal et les issues des grossesses ont été recueillis par les échographistes après consentement des patientes. Résultats Dix cas d’images abdominales kystiques ont été recensés. Ces images avaient un diamètre moyen de 15 mm. Elles étaient anéchogènes dans 5 cas, hyperéchogènes dans 2 cas et mixtes dans 3 cas. Dans 6 cas sur 10, une régression complète a été observée à 18 SA et le pronostic post-natal était alors excellent : dans les 5 cas d’images anéchogènes, l’examen pédiatrique était normal à la naissance et dans un des cas d’image hyperéchogène, une imperforation anale simple a été observée. Dans les quatre cas d’images hyperéchogènes ou mixtes qui n’avaient pas régressé, le devenir était défavorable avec quatre interruptions médicales de grossesse, dont deux cas de dysgénésie cloacale. Conclusions Les images kystiques abdominales sont rares au premier trimestre de la grossesse. Elles disparaissent dans deux tiers des cas et sont alors de bon pronostic. Lorsqu’elles persistent ou que leur contenu n’est pas strictement anéchogène, elles nécessitent un suivi échographique spécialisé à 18 et 22 SA. Objectives Abdominal cysts are seldom detected at the first trimester scan. The aim of this study is to ascertain their outcome, which is currently not established. Methods The French College of Fetal Ultrasound conducted a prospective observational study of 24 months, collecting all cases of abdominal cysts discovered during the first trimester ultrasound. Cases of megacystis were excluded from the study. Ultrasound images, prenatal diagnosis expert reports and pregnancy outcomes were collected by sonographers after patient consent. Results Ten cases of abdominal cysts were collected. The cysts had a mean diameter of 15 mm. They were anechoic in 5 cases, hyperechoic in 2 cases and mixed in 3 cases. In 6 of 10 cases, complete resolution was observed at 18 WG with a good post-natal outcome; the five cases with anechoic images were associated with normal pediatric examination at birth and in the case of the resolved hyperechoic image, an isolated imperforate anus was observed. In the four cases of hyperechoic or mixed images that had not resolved, the outcome was poor with four termination of pregnancies, including two cases of cloacal dysgenesis. Conclusions Abdominal cysts are rare at the first trimester scan. They resolve in two thirds of cases and are then associated with good outcome. When they do not resolve or when they are not strictly anechoic, they require a referral ultrasound examination at 18 and 22 WG. [ABSTRACT FROM AUTHOR]

Ultrasound plays a key role in prenatal screening for fetal anomalies. Minor anomalies with a good neonatal outcome are identified in 5 to 10% of pregnancies. Even when prenatal diagnostic work up is reassuring, announcing prenatal soft markers may have a substantial psychological impact. Psychodynamic theories hypothesize that the announcement of a fetal anomaly may disrupt the construction of maternal mental representations about the baby and thus impair early interactions. Surveys based on self interviews showed that the announcement of a minor anomaly increases parental anxiety, especially when the outcome is uncertain or when the information is considered unclear by the parents. Clinical studies based on semi-structured interviews showed that the announcement also increases anxiety and depression levels, hampers maternal investment, alters representational pattern and early mother-infant interactions. These phenomena may persist up to 2 months post partum. We discuss guidelines that may reduce the impact of announcing a minor fetal anomaly: 1) training sonographers to announcement; 2) counseling based on medical evidence or expert consensus; 3) identification of families that may benefit from psychological prenatal care during pregnancy and post partum. [ABSTRACT FROM AUTHOR]

Résumé: Le génotypage RHD fœtal sur plasma maternel est une méthode novatrice et non invasive pour évaluer le risque de maladie hémolytique fœtale chez les femmes allo-immunisées anti-RH1. Après revue bibliographique, la méthodologie décrite par J.M. Minon (J Gynecol Obstet Biol Reprod 2005) a été choisie au laboratoire : les exons 4, 5 et 10 du gène RHD sont amplifiés par PCR en temps réel. Lors de la mise au point du test au laboratoire, 200 résultats de génotypage ont été comparés au phénotype RH1 à la naissance. La validation de méthode a permis de vérifier notamment la sensibilité et spécificité de la méthode, la valeur prédictive négative ; l’étude de corrélation a permis d’établir les critères d’interprétation des résultats. L’analyse de risques résiduels a permis de mesurer les limites réelles de la méthode, notamment liés à la faible concentration d’ADN dans le plasma et aux variants de ce gène. En conclusion, le génotypage RHD fœtal permet d’optimiser la prise en charge obstétricale des femmes RH:-1 allo-immunisées, par une méthode simple, fiable et peu invasive. Le laboratoire a obtenu en 2013 l’accréditation pour cet examen. [ABSTRACT FROM AUTHOR]

Development of more and more effective prenatal diagnosis methods leads to thorny ethical questions. Prenatal diagnosis obstetricians have to care about the growing risk of eugenic drift of prenatal exams. [ABSTRACT FROM AUTHOR]

Résumé: Les prélèvements fœtaux concernent encore 6 à 7 % des grossesses en France. Si dans la majorité des cas, le prélèvement ne présente pas de difficulté pour un opérateur entraîné, il peut arriver que des circonstances particulières liées au terrain maternel (traitements anticoagulants, métrorragies, fièvre, etc.) rendent le geste plus difficile à réaliser. À partir d’un questionnaire adressé aux centres pluridisciplinaires de diagnostic prénatal français et d’une revue de la littérature, nous établissons une conduite à tenir pour des prélèvements fœtaux dans ces différentes circonstances. [ABSTRACT FROM AUTHOR]

Résumé: Lorsqu’une pathologie fœtale incurable est découverte, certains couples choisissent de poursuivre la grossesse, ne pouvant se résoudre à une interruption de grossesse pour motif médical. De telles situations apparaissent, depuis quelques années, en médecine néonatale et peuvent déboucher sur une prise en charge palliative néonatale. Devant l’imprécision du diagnostic anténatal et face aux incertitudes pronostiques, l’équipe médicale se doit d’informer le couple des différentes évolutions possibles, étape après étape. La prise en charge palliative de l’enfant à naître doit alors avoir une cohérence d’intention à la fois dans la réflexion qui la porte, le discours qui est livré aux parents et les actions qui sont menées, tout en faisant participer l’ensemble des intervenants d’une équipe de santé. L’un des enjeux est d’explorer comment il est possible de contribuer à la construction de la parentalité dans le contexte d’un projet de naissance en soins palliatifs. [ABSTRACT FROM AUTHOR]

Abstract: Cleft lips and palates (CLP) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. Patients presenting with CLP don’t usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetical dissatisfaction with one''s face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment…). A careful consideration of concerned families show the importance of the psychological context and the risks of a disharmonious structuring of the parents–child relationships on the child''s development. The identification of the difficulties faced by these families, depending on the child''s age, can be easily identified. They can be identified more particularly at birth when the family first sees the child. [Copyright &y& Elsevier]

Abstract: By way of this round table''s introduction about “transmission and genetics” and before the conference of professor J.-M. Mandel, we propose some thoughts round fundamentals questions of innate and acquired, risks of predetermination, dangers of some predictions. A clinical illustration supports our questioning about stakes of prenatal diagnosis, hazards of genetics’ diagnosis and effects of a predictive diagnosis. In fact, our experience as consultation-liaison child psychiatrist in paediatrics allows us to observe the different viewpoints applied to children: those of science, of genetics, those of neonatology, of paediatrics, of psychoanalysis. If tendency has long been to pit the science''s child against the psychoanalysis one, it appears to us that this opposition is becoming obsolete; clinical medicine itself imposes such a correction. The matter is no more to pit but to make up. Besides, it is probably no accident that psychoanalysis is more than ever topical. The more science progresses, the more the question of singularity is obvious. Neurosciences and genetics seek universal mechanisms that finally produce something singular, making still relevant what is peculiar to psychoanalysis. But the confusion is frequent between history and destiny of the child, between anamnesis and destiny, between prevention and prediction, between knowledge and certitude. We insist on the trap of causalities and determinisms (genetic, epidemiological, paediatric, sociologic and even child psychiatric determinisms) specifying that “future is not written”. Always, there is a radical hiatus between a state of the brain and the subject, which is going to deduct (brain plasticity and unconscious), a distance between IRM and the subject, between the disease and the subject who suffers, between genotype and phenotype… And it is in this distance that it''s possible to offer a space of freedom, to leave opened the question of the subject, including in the extreme situations. In this debate about the transmission and the predictive diagnosis, the child psychiatrist''s has a place. We discuss this place, specifying why the child psychiatrist''s is a practitioner of the unexpected, an artisan of the meeting. [Copyright &y& Elsevier]

Through the development of new technologies, clinical geneticists will therefore have to face new kinds and sources of information. Rapid developments of high throughput technologies let expect that new genetic testing technologies will soon be implemented in clinical laboratories. Sequencing genes generates quantitatively abundance of data and qualitatively complex and heterogeneous information - with different levels of clinical relevance. As data interpretation becomes tougher and unexpected, health related information are more common, emerging technologies will obviously challenge medical practices. Prenatal counselling has to be non-directive, and respectful of parental decisions. As the volume and the complexity of information that need to be integrated in the families decision-making is increasing, individual decisions about prenatal diagnosis will be impracticable.We therefore aim to discuss the potential impact of this evolution on patient/clinician relation and its incidence about clinical practice. At a social level we have to evaluate the consequences regarding the management and the perception of genetic information. As this technology challenges drastically genetic counselling practices, ethical guidelines are urgently needed. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis aims at detecting in utero fetal diseases. It often requires an invasive fetal sampling, whose main complication is the occurrence of miscarriages in 0.5 to 4% of cases. The discovery of free fetal circulating DNA in maternal plasma in the late 1990s has enabled the development of techniques for non-invasive prenatal diagnosis. Fetal sex determination and RHD genotyping are now part of current practices and help to reduce the number of invasive samplings and inappropriate treatments. While the noninvasive diagnosis of monogenic diseases is still at the stage of development, recent technological advances - including next-generation sequencing-have made possible the diagnosis of trisomy 21 from maternal blood, whose contribution remains yet to be defined in patients' management. [ABSTRACT FROM AUTHOR]

Trisomy 12 mosaicism is a rare chromosomal mosaicism witch makes fetal prenatal diagnosis and coverage complicated. We find in literature 36 antenatal detected cases and 6 postnatal; and in only 5 cases the fetal ultrasonography was at the origin of the diagnosis. From a new case diagnosed in prenatal on ultrasound signs at the CHU of Grenoble, and by studying the literature, we attempt to review the relevant ultrasound and phenotypic elements of diagnosis to improve the screening and the genetic counseling. [ABSTRACT FROM AUTHOR]

Array CGH is a new automated exploration method that overcomes cell cultures, and his resolution power is 10 to 1000 times higher than the karyotype one's. In postnatal diagnosis, the study by array CGH of patients with intellectual disabilities and/or congenital malformations led to the identification of about 10% to 15% of chromosomal anomalies that are not visible on the karyotype. Thus, array CGH has become the first-line test for genomic analysis of these patients. The application of array CGH in prenatal diagnosis is more difficult because of the detection of chromosomal anomalies whose clinical impact is difficult to predict. However, advances in knowledge of the genome and the development of appropriate tools (DNA chips) will allow to consider, in the future, the application of this technique as first-line test for the study of chromosomes in prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Abstract: Coarctations of the aorta can be associated with severe neonatal consequences. Screening for and diagnosis of this prenatal malformation remain difficult. We review the various tools currently available to us, and their respective limits, to minimize the rate of false negatives and false positives associated with prenatal screening for this situation. [Copyright &y& Elsevier]

Abstract: Objective: To evaluate the caregivers’ opinions regarding decision-making in termination of pregnancy (TOP) for fetal anomaly. Material and methods: Questionnaire survey using a semi-structured survey based on visual analogue scales, sent to all multidisciplinary centres for prenatal diagnosis in France. Answers were received from 26 centres nation-wide. Results: Response rate was 39% (213 responses received over 550 questionnaires sent). Fifty-five percent of respondents were women, 90% physicians, 7,5% midwives. A vast majority (69.8%) believes that their own convictions play a bigger role in decision in real practice than in their ideal. The major decisional factors in decision-making for TOP are: the long-term prognosis of the anomaly, a specialized opinion on its curability, the quality of the information given to the future parents, their expressed opinion, the existence of a multidisciplinary decision, the ability of the future parents to understand the medical data, the obtention of a medical consensus, the proof level of the medical information. For only 55% of the respondents, the current legal framework is adequate to manage the situations that result from prenatal diagnostic practices today. The question of late third-trimester TOP raises ethical debate: over a third (37%) see no ethical difference between TOP and withdrawal of care during the neonatal period; the majority (48% versus 43%) feel that ethically speaking a neonate and a foetus at 39weeks gestational age (GA) should not be treated differently; 37% of the respondents feel that current practice is likely to lead to eugenism. Discussion and conclusion: As far as TOP is concerned, the huge discrepancies in responses from the professionals highlight the ongoing ethical debate, especially concerning the concept of informed choice in TOP, which we believe should be entirely revisited. [Copyright &y& Elsevier]

Abstract: Array-CGH emergence allowed important diagnosis progress, and a better care of patients in postnatal. So, there is a great temptation to use it also in prenatal diagnosis. The point of view objective is to make a rapid overview of cytogenetic diagnosis evolution during the last 50 years, and to show all questions raised by the use of array-CGH, and problems that could arise in prenatal diagnosis. While array-CGH just comes in genetic laboratories, new diagnosis approaches emerged like whole genome sequencing or non-invasive prenatal diagnosis. The 2nd objective will be to review all these techniques for a probably close future. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: The purpose of this study is to describe the diagnosis, the care and the prognosis of the fetuses with an antenataly diagnosed megacystis. Patients and methods: Six year retrospective study about 46 cases of megacystis (26 diagnosed during 1st trimester; 14 during 2nd trimester; 9 during 3rd trimester) referred in the prenatal fetal medicine unit of the Femme–Mère-Enfant hospital in Lyon (France). Results: The main aetiology is urethral occlusion, particularly for megacystis discovered during the 1st and the 2nd trimesters. Twenty-two terminations of pregnancy were performed (47.8%) and 6 pregnancies arrested spontaneously (13%). Eighteen children were born alive, but 2 died in neonatal period. Finally, 16 children survived (34.8%). Chromosomal abnormalities are frequent (22%). Discussion and conclusion: Antenatal discovery of a megacystis is a complex situation, and often of poor fetal prognosis. It requires a multidisciplinary approach to allow the concerned couple to be determined on the best care of this pregnancy. [ABSTRACT FROM AUTHOR]

Abstract: This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used. [ABSTRACT FROM AUTHOR]

Abstract: Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child''s growth is complete. Patients presenting with CLP don’t usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetical dissatisfaction with one''s face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment…). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a disharmonious structuring of the parents-child relationships on the child''s development. The identification of the difficulties faced by these families, depending on the child''s age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the child''s life cycle (when starting at kindergarten where the child socialises for the very first time, at the start of the first year in primary school where pupils learn how to read and then at the start of secondary school which is yet another crucial step for the child due to the adolescence period). It is also obvious that an adult affected by CLP has a particularly heavy medical history as the patient had to go through various treatments and surgical interventions during his childhood and adolescence, which is even sometimes maintained at adulthood. Repeated appointments with the different specialists involved in their treatment punctuate their life as well as their parents’. This medico-surgical setting for facial malformations i.e. the features of the patient''s face which are largely involved in their interpersonal relationships and the expression of emotions can have serious consequences. Most children presenting with CLPs and living in France benefit from regular follow-up schemes carried out in competent reference centres by a multidisciplinary team whose members represent each of the fields of expertise involved in the correction of this malformation: infantile and maxillofacial surgery, otorhinolaryngology (or ENT), orthophony and dentofacial orthopedics. Only the two French reference centres benefit from the permanent presence of a psychologist. This raises the question whether every care centre should take into care these children and their parents’ mental health by offering psychological support during the course of the therapeutic follow-up scheme for these children, and this from an early age on as is recommended by the American Cleft Palate Craniofacial Association. [Copyright &y& Elsevier]

Abstract: Microarray-based comparative genomic hybridization (aCGH) is becoming an efficient clinical diagnostic tool enabling genome-wide screening of segmental copy number variations (CNVs). Regarding its ability to detect segmental genomic CNVs in individuals with mental retardation, autism and multiple congenital anomalies, aCGH is gradually replacing cytogenetic methods. Using this tool as a prenatal test for foetal genomic imbalance offers the promise of detecting pathogenic gain or loss of genomic material more quickly and much more frequently than current methods. However, there is a concern about CNVs of uncertain significance (for example, predisposition to adult occurring disease with incomplete penetrance) which might lead to termination of normal pregnancies. We report in this article recent data using aCGH in foetuses from spontaneous or medically terminated pregnancies associated with multiple malformations. aCGH should be considered as a diagnostic tool to improve genetic counselling in fetopathology. We also report recent data on aCGH as a prenatal test. Larger studies with targeted arrays are mandatory to determine whether the improved overall detection rates of clinically chromosomal abnormalities will justify offering aCGH in a prenatal diagnosis setting. [Copyright &y& Elsevier]

Summary: Triploidy is one of the most common chromosomal aberrations in spontaneous abortions characterized by a 69-chromosome karyotype. This chromosome abnormality is rare in live-born children. Prevalence is lower than 1/50,000. We report on two premature newborns, male and female, born at 35 and 37 weeks of gestation, who presented with severe intrauterine growth retardation, facial dysmorphy, myelomeningocele, and syndactyly. They died during the first hours of life due to respiratory distress syndrome. Analysis of the karyotype showed a homogeneous triploidy on all mitoses: 69 XXY and 69 XXX. The parental origin of the triploidy can have specific effects in the fetal phenotype and the development of the placenta. [Copyright &y& Elsevier]

Following the recommendations of the French National Authority for Health (HAS) regarding the screening for Down’s syndrome (2007), the french ministry of health has recently published the new related policy (June 23, 2009 modified February 19, 2010). Territorial perinatal networks are strongly involved in the local setup of such an organization. The screening should be offered to any woman, regardless of age. The promoted strategy raises up as a first choice the combination of first trimester ultrasound measurement of the foetal nuchal translucency (NT) and first trimester maternal blood biochemistry (PAPP-A and Free Beta HCG) and as a second choice the integration of NT with second trimester maternal blood biochemistry (AFP and HCG). If the NT is not available, the use of second trimester maternal biochemistry only is recommended. Except in case of missed access to non invasive screening, foetal karyotype should not be supported anymore by the health insurance system after 38 years. A high quality of the first trimester ultrasound is promoted and any ultrasonographer involved in Down’syndrome screening must apply for a program of evaluation of professional practices (EPP) focused on NT and CRL measurements. Each territorial perinatal network delivers an ID number to any sonographer of the territory fitting with the official education and EPP requirements. In order to be allowed to proceed to the biochemical analysis and the calculation of risk, the laboratory must include only NT measurement provided by reports showing the sonographer’s ID number. Recommendations of good practice are provided regarding each step of the program including pre and post screening counselling. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: Maternity has been denied to blind women for a long time, and is still often criticized or not understood in a very demanding social environment for the future mothers. Our objective is to describe the follow-up of the pregnancies and the childbirth of the visual handicapped women within the framework of a dedicated network of care liking with the Maternal and Infant Protection Unit and the paediatric ward. Patients and method: We studied a retrospective series of 18 women blind or amblyopic followed up at the at the institut de puériculture et périnatologie (Paris, France) from 2001 to 2006. We report the social and morphological characteristics women, the characteristics of the monitoring of their pregnancy and childbirth and the approach of antenatal care. The results were compared with the data of the average French population studied in the perinatal investigation of 2003. Results: The pregnancies proceeded without particular obstetrical complications and lead to the birth of 20 healthy children. The population of the women is older than the French average, of higher initial weight. There is no increase in the number of consultation and ultrasound scans. The characteristics of the follow-up are discussed. Discussion and conclusion: Each maternity team should be able to follow and deliver women with a visual defect. Some specificity however needs to be helped along for these future mothers. The training of the professionals, the work within a dedicated network and the adjusting of our methodologies not only come to improve the pregnancies but also to enrich our practices. [Copyright &y& Elsevier]

Résumé: La loi no 2002-303 du 4 mars 2002 n’est pas applicable à une demande formulée après son entrée en vigueur mais se rapportant à des faits qui lui sont antérieurs. En conséquence, il incombait à la cour d’appel de rechercher si les divers manquements reprochés au gynécologue obstétricien constituaient ou non une faute simple. [Copyright &y& Elsevier]

Abstract: Objective: Trisomy of chromosome 13, 18, 21 and sex chromosome aneuploidies are the most common chromosomal abnormalities encountered in prenatal screening and are responsible for polymaformative syndrome associated with severe mental retardation. This high degree of morbidity justifies the prenatal diagnosis of these aneuploidies. Fetal nuchal translucency measurement and maternal serum biochemical marker assessment are the method of choice used for antenatal screening of aneuploidies. This prenatal screening leads to numerous maternal samplings followed by karyotyping which is cost-effective, time consuming, while results are generally returned between 2 and 3 weeks. Our study describes the research of common aneuploidies by molecular biology. We have used on one hand the MLPA kit (MRC Holland) based on amplification of specific DNA probes that hybridize with chromosomes 13, 18, 21, X, Y. On the other hand we have developped multiplex fluorescent PCR, amplifying microsatellite DNA sequences. Patients and methods: We have evaluated the efficiency of these two techniques to detect chromosomal abnormalities by screening 400amniotic fluids or chorionic villi samples obtained from pregnant women presenting a high risk of chromosomal aneuploidy. Results: We have found four trisomies 21, one trisomy 13, one monosomy 13, one trisomy 18, two triploidies, one trisomy X and one Klinefelter syndrome. Discussion and conclusion: In our study we have detected by molecular biology, in less than 48h, 100% of common chromosomal aneuploidies without false positive or false negative results which could lead molecular biology as a method of choice for the rapid detection of common aneuploidies in addition to fetal karyotyping. [Copyright &y& Elsevier]

Summary: Aim of the study: To evaluate the impact of prenatal diagnosis on the epidemiology and outcome of children with posterior urethral valves (PUV), considering that today termination of pregnancy may be proposed in the most severe cases. Patients and methods: Forty-three cases of patients with PUV were diagnosed between 1998 and 2007 in the Languedoc-Roussillon region. In this study, we detailed the prenatal data and postnatal outcome of those patients with a mean follow-up period of 7.6 years. Results: Medical interruption of pregnancy was performed in 15 severe cases. One death in utero was also observed. Twenty-seven patients were managed postnatally and one child died during the neonatal period because of lung hypoplasia. For the 26 remaining patients at the end of the follow-up period, 5 had mild renal insufficiency with a creatinine clearance calculated with the Schwartz formula of less than 80ml/min/1.73m2. One reached end-stage renal failure at the age of 7 years. Proteinuria and hypertension were rare. Discussion and conclusion: Today, because of the increase in medical termination of pregnancy in the most severe cases, most of the children born alive with PUV experienced a better renal prognosis when compared with previous data. Prenatal diagnosis and therapeutic progress significantly modified the epidemiology and outcome of this disease. Nevertheless, the best predictor of renal outcome remains renal function at 1 year of age. [Copyright &y& Elsevier]

The exploration of the foetal digestive tract is not systematized and the ends (thoracic oesophagus and anorectal area) are often excluded from the examination excluded from screening. Only the foetal digestive pathology of liquid expression (digestive obstruction, digestive duplication) is easily detected. The most frequent digestive pathologies (oesophagus atresia, anorectal malformation) are still very often a neonatal discovery. With echography or MRI, the antenatal analysis of the digestive tract is optimized by the acquisition of coronal (thoracic oesophagus, small intestine, and colon) and sagittal median cuts (rectal reference mark, sacral concavity). The interpretation of the echosignal of the contents of the digestive tract (liquid or meconial) takes into account the transition periods responsible for the physiological modifications in charge of the modification of images (24–26 WA and 29–30 WA). [Copyright &y& Elsevier]

Exponential improvements in imaging techniques over the last ten years, through patients’ and physicians’ wishes for less invasive fetal work-up, now allow us to better explore and understand fetal lung physiology during pregnancy. Diagnostic and prognostic consequences at stake are huge, especially for fetuses at risk of pulmonary hypoplasia. We will decline in three parts (normal lung, malformative lung and pulmonary hypoplasia), through a review of the literature and enlightened by our experience, the potentialities and limitations of all imaging modalities (Ultrasound, Doppler, 3D, MRI). Then, we will dwell on future leads and the need for large-scale collaborative studies. [Copyright &y& Elsevier]

Bronchial atresia is a rare congenital malformation of the lung. The main-stem segmental or lobar bronchus fails to construct normally, which can lead to accumulation of mucus within the distal bronchi or lung hyperinflation of the obstructed lobe. The prenatal diagnosis is rare and difficult. We report two cases of fetuses who presented pathological examination of the lung on the ultrasonography, at 22 weeks of gestation, suspect of prenatal bronchial atresia diagnosis. We analysed this malformation through a literature review in order to discuss the differential diagnosis to be evoked, as well as appropriate perinatal management. [Copyright &y& Elsevier]

Human Cytomegalovirus (CMV) is the main cause of mental retardation and sensorineural hearing loss related to congenital infections. Justification of systematic screening for fetal CMV infection is still controversial and is not recommended in most developed countries. This is mainly justified by the paucity of antenatal prognostic factors and the lack of established intrauterine treatment when fetal infection has been diagnosed. Our aim was to review the current state of the knowledge about the CMV congenital infection and to highlight recent advances in the diagnosis as well as in the identification of prognostic factors. [Copyright &y& Elsevier]

Non invasive fetal RhD genotyping, based on polymerase-chain-reaction (PCR), is an accurate and validated technique. It allows a reduction by one-third of anti-D immunoglobulin injections to prevent RhD allo-immunization. In case of maternal anti-D immunization, fetal RhD genotyping allows to focus on RhD positive fetuses only the biologic and sonographic follow-up. The wide use of this technique implies the validation and economic evaluation of a commercial RhD genotyping kit, ready for use in non specialized laboratories. [Copyright &y& Elsevier]

Objectives: To assess recent trends in the prevalence of Down syndrome and the proportion of cases with a prenatal diagnosis in the Parisian population. Patients and methods: Four hundred and ninety-nine cases of Down syndrome were registered by the Paris Registry of Congenital Anomalies during the period 2001–2005. All cases with prenatal diagnosis were confirmed by cytogenetic examination. We analyzed trends in the total and live birth prevalence, the proportion of cases with a prenatal diagnosis and those with a pregnancy termination, as well as gestational age at diagnosis and termination. Analyses were stratified by maternal age and trends were tested by the Cochran-Armitage test and Anova. Results: Total prevalence of Down syndrome remained high (37.6 per 10,000 births, 95%CI 34.2–40.9) during this period because of advanced maternal age in Paris. The proportion of cases with a prenatal diagnosis (overall average 85.5%, 95% CI 81.8–88.1), and live birth prevalence of Down syndrome (7.1 per 10,000 live births, 95%CI 5.7–8.6) have remained fairly stable over time. The great majority of women (95% CI 95% 92.7–96.9) opted for a pregnancy termination following a prenatal diagnosis of Down syndrome. A trend towards an earlier gestational age at prenatal diagnosis was noted among women less than 30 years of age. Discussion and conclusion: It is important to continue to evaluate changes in the prenatal diagnosis of Down syndrome, notably in view of potential changes in screening practices and policies, and particularly if a first trimester strategy is adopted following recent recommendation by the “Haute Autorité de santé”. [Copyright &y& Elsevier]

Abstract: We report a case of pleuropulmonary blastoma (PPB) prenatally diagnosed at 32 weeks of gestation. The suspected diagnoses was a congenital cystic adenomatoid malformation of the lung (CCAM). The excision of the malformation was performed through a thoracotomy at 4 months of age. On pathological examination, the presence of focal stromal hypercellularity (cambium layer) in the cyst wall was consistent with both the diagnosis of type IV CCAM or grade I PPB. The presence of nodules of immature cartilage and the positivity of particular immunohistochemical staining (indicate which staining came positive) confirmed the diagnosis of grade I PPB. Pleuropulmonary blastoma is a rare malignant tumour in children, sometimes difficult to differentiate from the type IV CCAM as they share similar circumstances of diagnosis, radiological and macroscopic features. The pathological examination does not always allow to differentiate them clearly, implying the necessity of an extended medical supervision for the children carrying those border lesions. Because of the risks of malignancy and of the risks of septic complications, surgical resection during the first year of life is often advocated. Therefore, prenatal detection is essential to allow adequate early management and complete resection of these lesions. [Copyright &y& Elsevier]

Abstract: The thoracic part of a fetal esophagus is generally overlooked by usual prenatal ultrasonography. However, screening it might improve the detection rate of esophageal malformations for which prenatal diagnosis remains far from accurate. In this article, we describe the technique which makes it possible to get a precise image of a fetal thoracic esophagus in its more sensitive part: between the trachea and the aorta. After describing the appearance of a healthy thoracic esophagus, we will show how this technique can be used for prenatal detection of esophagus malformations. For this purpose, we provide the case report of a prenatal diagnosis of esophagus atresia with esotracheal fistula. [Copyright &y& Elsevier]

Abstract: The prenatal diagnosis of ambiguous genitalia requires a complete examination of the fetal anatomy to rule out any other congenital defects and the analysis of the fetal genotype. In addition any additional information on the anatomy of the internal genitalia, i.e. the presence or absence of fetal uterus, may be relevant to the prenatal evaluation of female pseudo-hermaphroditism. The recent development of 3D and 4D ultrasound technology may be relevant to a more clearly identification of the fetal uterus. Volume contrast imaging (VCI) provides high contrast images by the realization of thick slices of the region of interest (ROI) thereby providing a clearer picture of the fetal uterus. The multiplanar mode may also facilitate the differentiation of the fetal uterus from the other intra-pelvic organs by offering images in three perpendicular planes. Finally, the tomographic ultrasound imaging (TUI) mode offers the ability to display on a single panel numerous 2-dimensional sections, as obtained using computed tomography imaging. [Copyright &y& Elsevier]

Some anomalies of the kidney and urinary tract evolving in utero may compromise the renal function in the newborn. Early therapeutic options do exist, especially in obstructive nephropathies. The decision depends on a correct evaluation of the fœtal renal function and prognosis, which is based on a range of methods: ultrasound echography, biochemical analysis of fœtal urine, and, more recently, foetal serum markers such a beta-2 micro globulin. These methods are reviewed. [Copyright &y& Elsevier]

Fetal ultrasounds examinations allow identification of brain malformations; announce of diagnosis and information about prognosis may be difficult when malformation is rare and prognosis uncertain.Objectives. – In this study we tried to analyze how fetal imaging for prenatal screening was organized and how couples were managed and supported.Methods. – We focused on the procedures used to inform couples: content, method of delivery and consequences. A referent physician in each large multidisciplinary center for prenatal diagnosis in Paris area was questioned by semi-directed interview.Results. – Our study showed that it is difficult to standardize the way in which information is supplied before and after fetal ultrasounds examination; uncertainty about prognosis led more often to abortion.Conclusion. – Thus, couples should have clear and complete information provided by a multidisciplinary team including specialists particularly concerned by the malformation (neuropediatrician and/or neurosurgeon)—moreover when prognosis is uncertain, in order to support them, and to accompany their decision concerning pregnancy. [Copyright &y& Elsevier]

Leprechaunism or Donohue syndrome is a very rare malformation (less than one case per million), caused by a genetic insulin resistance. We report a case of a patient whose diagnosis was made at birth in gynecology-obstetrics 'C' University Hospital Ibn Rushd Casablanca. The case arose as a result of a consanguineous marriage. Donohue syndrome is an autosomal recessive disease corresponding to a severe congenital form of extreme insulin resistance syndrome. The total resistance to insulin makes his prognosis always pejorative. Early prenatal diagnosis is possible, leaving the possibility for parents to request a termination of pregnancy for medical reasons. [ABSTRACT FROM AUTHOR]