Search

We conducted a study of five patients with congenital diaphragmatic hernia (CDH) in the department of antenatal diagnosis over a period of two years. Our study highlights the overall benchmarks for this disease and its management as well as the news on prenatal assessment of neonatal prognosis using Lung Over Head Ratio (LHR): ultrasound versus magnetic resonance imaging (MRI) in the third world. The purpose of this study is to evaluate the prognosis of these new-born babies and support parents of a fetus with diaphragmatic hernia. [ABSTRACT FROM AUTHOR]

Testimony of a practice by a midwife starting her exercise at the same time as the prenatal diagnosis, the article describes the technical stages and the permanent evolution of a rigorous legislative framework. Hyper-medicalization was imposed exponentially at the same time as the need to face the different emotions and temporalities between teams and couples. The emotional consequences of women and couples forced them to invent adequate relationship support. We had to move forward together, find the right words, give a new place to women and spouses, help professionals so that they can cope with violent emotions, improve transmissions, collect testimonies, invent care models, and finally build adequate training. A collective history has been written over progress and continues: the law, parents, and caregivers. The effectiveness of teamwork, openness to multidisciplinary, the ability to adapt practices on a case-by-case basis, richness of "indirect" work with child psychiatrists, creation of new communication tools to ensure consistency followup are all significant achievements. The path of the prenatal diagnosis, asks the caregivers to remain vigilant and inventive to keep intact the life plans of the parents. The father's place has become obvious and necessary in preventing further difficulties. A recent method of resuming obstetric history, combining medical records and narration by the person concerned, makes it possible to re-mobilize the sequela trauma by resynchronizing concrete data and memory traces in women. [ABSTRACT FROM AUTHOR]

Fetal brain tumors are rare. Teratoma is the most common histological type. Their evolution is often fatal. Ultrasound and magnetic resonance imaging allows for early antenatal diagnosis. However, definitive diagnosis is based on histologic examination. Placental metastases are rare and complicate more often the course of malignant melanomas, hemopathies, breast and bronchial cancers. In pregnant women who have recently had a cancer, anatomopathologic examination of the placenta should be requested to detect tumor invasion. Similarly, neonatal assessment and extended pediatric follow-up are required. The establishment of registries collecting all cancer cases diagnosed among pregnant woman is essential for a better understanding of the epidemiology of these cancers as well as of maternal and paediatric prognostic factors. We here report a case of fetal brain tumor in a woman with recurrent ovarian cancer. [ABSTRACT FROM AUTHOR]

Amniotic band syndrome (ABS) comprises of a spectrum of complex congenital malformations mainly interesting the limbs, but even the craniofacial region and the thoracoabdominal axis. There are two major opposing pathophysiological theories: premature rupture of the amniotic sac (exogenous growth theory) would result in the formation of fibrous bands which would lead to strangulation, thus causing the observed abnormalities; the endogenous theory holds that this is a syndrome of vascular origin and that the bands have no causative role. Prognosis depends on the severity of malformations. We here report two cases of lethal malformations in order to discuss the challenges in the diagnosis and treatment of amniotic band syndrome. This study mainly aims to highlight the role of prenatal diagnosis in the therapeutic management of this embryo-fetopathy. [ABSTRACT FROM AUTHOR]

Meckel Gruber syndrome is a rare autosomal recessive polymalformation syndrome characterized by occipital encephalocele, polydactyly and cystic renal dysplasia. Ultrasound is, at present, the best tool for prenatal screening of this lethal polymalformation and diagnosys is confirmed by karyotyping. We here report a case of Meckel Gruber syndrome detected by ultrasound. Abortion was performed at 25 weeks of amenorrhoea. [ABSTRACT FROM AUTHOR]

Résumé Objectif Évaluer le bilan d’imagerie (échographie ± IRM) dans le diagnostic des malformations lymphatiques kystiques de localisations cervicales. Méthodes Étude rétrospective, descriptive des patientes ayant bénéficié d’un dépistage échographique de masses cervicales antérieures, confirmées en échographie de référence, au Centre pluridisciplinaire de diagnostic prénatal du Centre hospitalier régional universitaire de Lille de 1997 à 2014. Résultats Dix-sept lymphangiomes ont été recensés. Douze (71 %) lymphangiomes étaient diagnostiqués lors de l’échographie de référence et 88 % lors de l’IRM. On retrouvait une extension de la masse pour 10 (62 %) lymphangiomes en échographie et pour 11 (85 %) en IRM. Dans la plupart des cas, on objectivait respectivement en échographie et en IRM : une extension de la face (4, 23 %/6, 46 %), de la base de la langue (3, 18 %/2, 15 %) et du plancher buccal (3, 18 %/3, 15 %). Une atteinte pharyngée (5,38 %) et mandibulaire (4,31 %) était dépistée en IRM et non retrouvée en échographie. Deux (12 %) fœtus étaient porteurs de malformation urogénitale, 1 (6 %) de malformation cardiaque et 1 (6 %) de malformation faciale associée en échographie. Les lymphangiomes restaient stables dans 12 (71 %) des cas et disparaissaient dans 2 (12 %) des cas avant la naissance. Conclusion L’IRM et l’échographie paraissent indissociables pour permettre une évaluation et une prise en charge optimale des masses cervicales. Le bilan des lésions associées semble pouvoir nous aider dans l’orientation diagnostique. Enfin, les lymphangiomes semblent avoir une stabilité au cours de la grossesse et un bon pronostic en cas de masse cervicale lymphatique non compliquée et sans extension péjorative. Objectives Assess imaging (ultrasound ± MRI) in the diagnosis of cervical cystic lymphangioma. Methods Retrospective, descriptive study of the patients who underwent reference ultrasound screening for fetal anterior cervival masses in multidisciplinary prenatal diagnosis center of the Lille Regional University Hospital from 1997 to 2014. Results Seventeen lymphangiomas were identified. Seventy-three percent of lymphangiomas ( n = 12) were diagnosed in the baseline ultrasound and 85% ( n = 11) in MRI. An extra-cervical extension was identified in 10 (62%) with ultrasound and 11 (85%) with MRI. Main sites of mass extension objectived by ultrasound and MRI were respectively the face (4,23%/6,46%), the base of tongue (3, 18%/2, 15%) and buccal floor (3, 18%/3, 15%). Pharyngeal disease (5,38%) and mandible (4,31%) were detected by MRI and not found on ultrasound. Associated malformations detected with ultrasound were 2 (12%) urogenital malformation, 1 (6%) heart defect and 1 (6%) facial anomalies. Lymphangiomas remained stable in volume in 12 (71%) cases and disappeared before birth in 2 (12%) cases. Conclusion MRI and ultrasound seem inseparable to assess and optimally manage fetal cervical masses. Detection of associated lesions seems to help in the final lymphangioma diagnosis. Most of the time, lymphangiomas seem to be stable lesion during pregnancy and a good prognosis in cases of uncomplicated cervical lymphatic mass and without pejorative extension. [ABSTRACT FROM AUTHOR]

Résumé Objectif Déterminer l’incidence des anomalies chromosomiques, des associations syndromiques et des malformations fœtales en cas de retard de croissance intra-utérin (RCIU) dans un centre de référence en diagnostic prénatal. Patientes et méthodes Il s’agit d’une revue rétrospective de tous les cas vus entre 14 et 27 SA avec un périmètre abdominal (PA) < 5 e percentile entre 2008 et 2012. Les aneuploïdies et malformations associées étaient recherchées. Les grossesses multiples étaient exclues. Résultats Un total de 8626 fœtus a bénéficié d’un examen échographique entre 14 et 27 SA. Deux cent trente-neuf fœtus (2,8 %) présentaient un RCIU défini par un PA < 5 e percentile. Parmi eux, 37 fœtus avaient un caryotype anormal ou un syndrome identifié (15 %). L’anomalie chromosomique la plus fréquente était la trisomie 18 (10 cas, 4,2 %). Soixante-sept fœtus avaient au moins une anomalie morphologique sans aneuploïdie ou association syndromique (28 %), 135 cas étaient isolés (57 %). Les anomalies associées les plus courantes étaient le fémur court (5 %), l’omphalocèle (5 %) et le laparoschisis (4 %). L’âge maternel était plus élevé (33 ans ± 5 ans versus 31 ans ± 5,6 ans, p < 0,01) et le z-score pour le PA plus bas (2,5 ± 1 versus 2,15 ± 0,6) dans le groupe à caryotype anormal ou association syndromique que dans le groupe sans malformation. Le liquide amniotique était plus souvent augmenté dans le groupe à anomalie du caryotype ou avec malformations associées (14 % et 17 %) que dans le groupe sans malformation (0 %, p < 0,01). Discussion et conclusion Cette étude décrit les anomalies et issues associées au diagnostic de RCIU au 2 e trimestre dans une large population de patientes. Nos résultats suggèrent que l’absence de malformation associée, le degré de retard de croissance, l’âge maternel et la quantité de liquide amniotique peuvent orienter le diagnostic et le conseil anténatal de cette population à haut risque. Objectives To determine the incidence of chromosomal abnormalities, syndromic association and fetal defects associated with second trimester fetal growth restriction (FGR) in a tertiary referral center. Patients and methods Retrospective review of all cases referred between 14 and 27 weeks with an abdominal circumference (AC) < 5 th centile between 2008 and 2012. Multiple pregnancies were excluded. Medical records were retrieved to look for the presence of associated malformations, aneuploidy and outcomes. Results A total of 8626 fetuses had ultrasonographic examination between 14 and 27 weeks. Of these, there were 239 cases (2.8%) with evidence of FGR as based on AC measurement. Thirty-seven fetuses had an abnormal karyotype or an identified syndromic association (15%). The most common chromosomal defect was Trisomy 18 (10 cases, 4.2%), 67 had at least one associated morphological abnormality without aneuploidy or syndromic association (28%). Most common associated abnormalities were relative short femur (5%), omphalocele (5%) and gastroschisis (4%). Last 135 cases were isolated fetal growth retardation (5%). Maternal age was higher (33 yr ± 5 yr versus 31 yr ± 5.6 yr, P < 0.01) and the z-score for the AC lower (2.5 ± 1 versus 2.15 ± 0.6) in the group with abnormal karyotype or syndromic association than in the group without associated malformation. Amniotic fluid was more often increased in the group with an abnormal karyotype or associated malformation (14% and 17%) than in the group without malformations (0%, P < 0.01). Discussion and conclusion This study describes abnormalities and outcomes associated with second trimester fetal growth retardation in a large population of patients. Our results suggest that the absence of associated malformation, degree of growth restriction, maternal age and the amniotic fluid index may help in the prenatal management and counseling of this high risk population. [ABSTRACT FROM AUTHOR]

This paper aims to determine the differences and similarities between eugenics and present time prenatal diagnosis. In the first part, a historical and semantical analysis on two exemplary texts written by the eugenicists Alexis Carrel and Charles Richet, both Nobel Prize, draws the main characteristics of the eugenics. The concept of eugenics is built according to five intrinsic characteristics: approach in terms of population, selection on criteria, focus on reproduction, use of coercion, and influence of the zootechnical practices. Five other characteristics appear rather due to the historical context and could be put aside for the purpose of the comparison. In the second part, the five intrinsic characteristics have been confronted with one of the most developed contemporary prenatal diagnoses, the Down Syndrom detection and diagnosis, with the clear conclusion it is not a eugenic practice. The importance of the individual choice and the absence of coercion, valuable for the great part of the prenatal diagnoses, induce a pronounced difference. In conclusion, even if the ethician Nicholas Agar plaid in defense of a new eugenics, called' liberal eugenics', the contemporary discussions concern more the field of human enhancement or anthropotechnics than the topic of eugenics. Moreover, they concern less diseases or incapabilities than better than normal performances. [ABSTRACT FROM AUTHOR]

Abstract: In France, screening for toxoplasmosis is mandatory during pregnancy, whereas it is not performed in most other countries. The rationale for prenatal screening is to allow for several levels of intervention: primary prevention by health education; in case of seroconversion, prophylactic therapy; prenatal diagnosis using amniocentesis; the possibility of termination of pregnancy (TOP) in case of severe cerebral lesions at ultrasound; in most cases of fetal infection, antiparasitic therapy prenatally as well as postnatally. The French Health Authority (Haute Autorité de santé [HAS]) called into question the screening policy, but maintained it for 5 years pending randomized clinical trials. Recent data is available to answer some of the questions, but not the place of prenatal therapy. The sensitivity of prenatal diagnosis has progressed, while the place of TOP has decreased. The incidence of toxoplasmosis in the French population has fallen. Some studies have shown evidence in favor of prenatal therapy for infected fetuses. However, studies of prophylactic therapy are disappointing. These studies are purely observational and concern mostly spiramycine. For the first time, a multicenter randomized clinical trial of prevention of mother-to-child transmission of Toxoplasma gondii is underway (the TOXOGEST study). The HAS guidelines are that any suspected toxoplasmosis seroconversion should be confirmed in a reference laboratory, and that patients should be referred to expert centers without delay. It is not recommeded to start therapy before such expert consultation. The reference centers should provide counseling and access to prenatal diagnosis and therapy options. [Copyright &y& Elsevier]

This article seeks to know the future of 28 singletons and their families, 6 years after twin-twin transfusion syndrome (TTTS) diagnosis. The research was composed of a psychological examination and a clinical interview of both parents. The results show that 78% of the children had normal cognitive evaluations. Goodenough's Drawa-Man-Test shows that 64% of the children's results are under the median. The computed axial tomography (CAT) revealed an inhibition of thought. The interview of both parents shows that the child's future is linked to the elaboration of mourning of the parents concerning his or her twin. [ABSTRACT FROM AUTHOR]

Summary: The ureteric-pelvic junction (UPJ) is an uropathy that his management had profoundly evolved during these last thirty years, both from the point of view of the care and diagnosis. Purpose: The purpose of this study is to discuss a diagnostic and therapeutic strategy of this uropathy. Patients and methods: This study concerning 53 children (59 UPJ with antenatal diagnosis) brought together in the unity of paediatric surgery of 1999 in 2008. We classified the patients according to their care: group I: surgical at once; group II: medical then secondarily surgical; group III: purely medical. Results: This study was about 34 boys and 19 girls with a sex ratio of 1.8. The UPJ was noticed in 26 cases to the left. The vesico-ureteral reflux was the most frequent associated abnormality (five cases). The majority are a part of the group I (42%). The anteroposterieur diameter in the ultrasound was on average 32.65mm for the group I while it was respectively 25.86 and 14mm for the group II and III. The differential renal average function in the scintigraphy (DTPA or MAG III) was normal (46%) in the group III while was 35 and 38% respectively in the group I and II. The nephrogram was obstructive in 72 and 75 % of the cases respectively in the group I and II and only in 16 % of the cases in the group I. The final comparison of the differential renal function between the group I, and the group II, does not show a significant difference (P <0.005). Thirty-three patients benefited from an initial medical supervision. Only sixteen children (48%) had pyeloplasty. Conclusion: The big frequency of the spontaneous improvements at the infant by simple tissular maturation (30% in this series), and the low incidence of the postoperative complications of the patients operated late do not authorize any more the premature pyeloplasty in front of an antenatal diagnosis UPJ. [Copyright &y& Elsevier]

Summary: Introduction: The orofacial clefts include 30 variant according to Tessier classification: the number 30 contain mandibular arc damage isolated or associated with damage of surrounding soft tissue. Case report: Our patient was a newborn with median mandibular cleft associated with ankyloglossia, bifid tongue and a top cervical fistula. We have not found polymalformative syndrome. The early surgical management included one time and after-effect were simple within 11months. Discussion: We point up difficulties for antenatal diagnosis and controversy about appropriate time for management of bone defect. The last physiopathologic hypotheses were explicated. [ABSTRACT FROM AUTHOR]

Diastematomyelia is a rare spinal malformation characterized by a cleft in the spinal cord caused by a sagittal osseous or fibrocartilaginous spur. We report a case of prenatal diagnosis of diastematomyelia on a routine second-trimester sonography. Postnatal MRI confirmed the diagnosis, whereas fetal MRI detected a lumbosacral lipoma. Diastematomyelia can be diagnosed antenatally with highly specific sonographic signs. We discuss the interest of antenatal MRI, made in second intention, to specify the diagnosis and the prognosis of this malformation. [ABSTRACT FROM AUTHOR]

Abstract: Dysmorphology is the study of congenital malformations and anatomic variations of the individuals. Up to 2500 dysmorphic or malformative syndromes are described, most of them being characterized by mental retardation. Craniofacial dysmorphology may be the keystone of syndrome identification, although limb anomalies are sometimes important diagnostic clues. The advances of fetal imaging, particularly the development of 3D ultrasound techniques, allow a detailed analysis of the fetal face. Dysmorphology requires experience of rare syndromes and a perfect knowledge of normal facial appearance and variations. In utero, this approach must combine the skills of both a practitioner with expertise in fetal ultrasound and a pediatric dysmorphologist. Furthermore, facial changes have to be analyzed according to the context of the pregnancy and family history. Identification of patent facial anomalies may be a clue for the diagnosis of severe fetal syndromes and diseases. Conversely, when fetal malformations or abnomalities of the fetal growth are identified, a careful facial analysis can be proposed in order to rule out well-known syndromes with a poor prognosis. However, from an ethical point of view, parents should not be aware of a possible facial dysmorphism unless there is a precise diagnosis and options concerning the pregnancy. [ABSTRACT FROM AUTHOR]

Summary: The malformative uropathy (MU) is frequent in paediatrics. Its gravity resides in the renal failure, that is often associated, hence the interest of an early diagnosis and a suitable management. The authors of this study wanted to determine the epidemiological and evolutionary features of the MU in a service of general paediatrics. It is a retrospective survey on eight and a half years (from January 2000 to June 2008), concerning 71 cases of MU, with 37 boys and 34 girls (sex ratio of 1.08). The mean age at diagnosis was 29.4 months, with extremes of one day to 13 years. The majority of urinary malformation was represented by the vesical urethral reflux (RVU) [45.3 %], the syndrome of the pyelo-ureteral junction (SJPU) [13.8 %] and the mega-ureter (MU) [12 %]. A feminine predominance was noticed in the RVU (63.3 %), but the children with SJPU or MU were mostly boys (80.1 %). The MU was bilateral in 33.8 % of the cases. An association of two MU or more different type was found for 12 of the patients (16.9 %), whose majority was of masculine sex (83.3 %). The diagnosis was mostly established after birth for an urinary infection (69 %), a growth delay (5.6 %) or a neonatal distress respiratory (4.2 %). The fever was the major physical sign found (70 %), and it was most often in association with an urinary infection. The renal ultrasonography was realised in first intention in nearly all cases (98.5 %), and it was abnormal in 47 cases. The pyelocalicial dilatation was predominant (29.5 %). The radiological retrograde uretrocytography (UCR) was indicated in 52 children to reveal anomalies of lower urinary tract; it permitted the diagnosis of 49 RVU and three valves of the posterior uretera. Four girls and 14 boys benefited from a surgical correction adapted to every type of MU. The mean age of the patients at surgery was 38.4 months. A spontaneous resolution of the MU was observed for 21 patients; it concerned 20 RVU, seven SJPU and four MU. Two of the patients evolved progressively towards a chronic renal failure. The antenatal diagnosis (DAN) should be currently the main circumstance of discovery of these anomalies whose majority is constituted of forms little or non complicated that present a prognosis and a favourable evolution spontaneously or after surgical correction. [Copyright &y& Elsevier]

Summary: Introduction: Monochorial twin pregnancies are characterised by the presence of vascular connections between the twins. These connections can be the cause of pathologies such as the twin-twin transfusion syndrome or the TRAP syndrome, which is defined as the association of a headless, acardiac twin with a healthy twin. Case report: The case of an acardiac, headless twin diagnosed during pregnancy at 24 weeks of amenorrhea is described. Discussion: An acardiac headless twin is a rare phenomenon. Yet early diagnosis is crucial during pregnancy to provide adequate monitoring. It is associated with a high death rate in the healthy twin caused by anaemia and heart failure. Therapeutic resources involve interruption of vascular anostomoses between the twins in order to perform a selective feticide. Conclusion: Treatment of acardiac headless twin pregnancy ranges from obstetric abstentionism to interventionism, which depends on the prognosis for the healthy twin, dominated by the risk of preterm birth and heart failure. [Copyright &y& Elsevier]

Abstract: Objective: Prenatal diagnosis of cleft lip and palate has been available for over 25 years. 3D ultrasound has significantly improved prenatal screening and perinatal care. Surface rendering of the fetal face is frequently asked by parents during exam and it has been shown to substantially improve parental-fetal bonding. However, little is known about the parental impact of surface ultrasound of the abnormal fetal face. We thus decided to assess parental feelings after 3D surface rendering of the fetal face in cleft lip and palate. Patient(s) and method: Between January 2003 and December 2006, a questionnaire was systematically proposed after birth to the parents who had 3D examination during pregnancy for lip and cleft palate. Analysis of results was performed retrospectively. Results: Twenty-three couples answered to inclusion criteria, 12 have been contacted, 9 responded. 3D ultrasound was not perceived as disturbing in 78% of parents. On the contrary 3D pictures had a positive effect and better prepare parents to birth. All of them even more considered that it should be systematically performed. Discussion and conclusion: Prenatal diagnosis of cleft lip and palate is known to improve parental well-being during the perinatal period. Furthermore, in addition to improved diagnosis, 3D ultrasound also provides a better understanding and acceptance of the malformation than 2D examination. The parental impact of 3D ultrasound is positive supporting and strengthening a systematic use in isolated fetal lip and cleft palate. [Copyright &y& Elsevier]

Since 1999, we have been using a strategy for prenatally diagnosed isolated congenital diaphragmatic hernia (CDH), that is based on close collaboration between physicians during the prenatal period and, at birth, an immediate planned care procedure, intended to allow the newborn to reach the stabilisation period and thus enable surgery as soon as possible. The aim of this study is to describe our global planned care procedure and its results, in a nine-year population-based study in east Brittany. All diaphragmatic hernias diagnosed in our region during the period of study (1999–2008) were recorded through the East Brittany Regional Perinatal Network. In cases of prenatally diagnosed isolated CDH, the following planned care was proposed: lung maturation with corticosteroids, planned birth by Caesarian section, immediate intubation and high frequency ventilation without permissive hypercapnia, inhaled nitric oxide (20 ppm) ± intravenous epoprostenol, and anaesthesia without muscle paralysis. Results are expressed as median (25–75th percentiles). Among the 69 CDH reported, 34 cases were isolated prenatally diagnosed CDH and were treated with the planned care procedure, with a survival rate of 30/34 (88%). Two terminations of pregnancy were performed on isolated CDH following parental request. In the group of prenatally diagnosed CDH treated with immediate planned care, 18 lung-to-head (LHR) ratios were recorded (< 1 in four cases, three alive, two of them with liver herniation). The observed/expected LHR ratio was < 35% in six cases (five alive, four of them with liver herniation). Eighteen foetal MRI were performed. Three deceased patients had a foetal lung volume (FLV) of between 16 and 19%. Among surviving babies, five had a FLV < 22%. Planned birth occurred at 37.4 (35.7–39.2) weeks’ gestation. Surgical repair was carried out on 32 of the 34 babies at 29 (4–65) hours of life, in the neonatal intensive care unit (NICU). The diaphragmatic defect was either primarily repaired (18 cases, 56%), repaired using transverse muscle (nine cases, 18%), or repaired with a prosthetic patch (five cases, 16%). The duration of ventilation in the surviving group was 10 (4–30) days. The patients stayed in the NICU for 15 (5–37) days and returned home on day 36 (17–97). No babies required oxygen supply or tracheostomy at discharge. No late death was observed (follow-up: 4.4 (0.8–8.8) years. Three babies required a gastrostomy because of feeding difficulties. Three scolioses were detected. None presented neurological impairment. It appears that the association of prenatal diagnosis and immediate planned care opens new perspectives for the optimum management of pregnancies with isolated CDH. Our strategy is based primarily on close collaboration between physicians during the prenatal period and a strictly codified postnatal care strategy. This strategy allows us to achieve a high survival rate approaching 90% and low morbidity without exceptional procedures, regardless of prognostic criteria. [ABSTRACT FROM AUTHOR]

Summary: Early diagnosis of congenital toxoplasmosis (CT) is necessary to prevent serious complications. The CT is diagnosed by the identification of the parasite in amniotic fluid during pregnancy or at birth by detection of antibodies synthesized by the fetus. The aim of this study was to determine the clinical and biological particularities of CT in a cohort of 11 cases observed in Tunisia and to evaluate the performance of the prenatal and neonatal diagnostic techniques that were used. In all patients, the presumed date of maternal contamination was determined based on the mother''s serological data. Neonatal serological screening included assays for immunoglobulins (Ig) G and IgM by enzyme-linked-immuno-sorbent assay (ELISA), IgM by immuno-sorbent-agglutination-assay (ISAGA), and comparison of the mother–baby immunological profile by western blot IgG and IgM. Seven out of the 11 cases had been diagnosed prenatally; only 3 (43%) had a positive polymerase chain reaction (PCR) test. Ten newborns out of 11 had serological criteria of fetal infection; western blot results were positive in all of them, ISAGA was positive in 2 and ELISA in none. The newborn who had a negative serology had been treated in utero. The date of positivity of the western blot test varied: 6 cases at birth, 2 at 12 days of life and 2 at 1month of life. The 2 patients who had positive ISAGA results had been contaminated during the 3rd trimester of gestation. [Copyright &y& Elsevier]

Objective: A fetal megacystis is defined by a longitudinal bladder diameter more than 7mm. The purpose of this study is to describe the prenatal ultrasound findings of this early fetal pathology and to assess pronostic and aetiologycal criteria. Patients and methods: Between January 2003 and December 2008, 12 cases of early fetal megacystis were identified in our referral fetal medicine unit (Saint-Étienne hospital, France). Results: There were two cases of spontaneous resolution and one case wasn’t a fetal megacystis. Termination of pregnancy for medical indications was realised for other cases because of associated malformations and bad evolution (six cases) and three chromosomal abnormalities (two cases of trisomy 18 and one of trisomy 21). Discussion and conclusion: Sonographic follow-up and fetal karyotyping are important to evaluate prognosis. However, our data suggest that fetal megacystis is a severe condition when diagnosed in early pregnancy. [Copyright &y& Elsevier]

Smith-Lemli-Opitz syndrome is a rare autosomal recessive genetic disorder which diagnosis is usually made postnatally. We describe a case of a prenatal diagnosis based only on specific ultrasound findings: intra-uterine growth retardation with facial dysmorphia, polydactyly and genital anomalies. We suggest giving more consideration to the ultrasound scanning for the diagnosis of the syndrome in the prenatal period. [Copyright &y& Elsevier]

Summary: Objective: When a baby is born deformed, his birth breaks up plans his family has made for his life as well as for the family itself. So, our objective was to describe the experience undergone by the mothers who gave birth to babies with serious deformities. Method: A prospective and descriptive study was carried out during 12 months about 35 mothers whose babies were born seriously deformed. The data were collected from newborn''s medical file and from a well-conducted interview with volunteered mothers. Results: The incidence of the major deformities was 1.4% and the antenatal diagnosis was carried out on only 6 cases. The announcement of deformities in the 30 cases discovered at birth by the clinical staff brought about a shock among mothers. In fact, 28 mothers were disappointed, while 23 experienced fear and 10 others felt guilty. Six mothers thought in terms of aborting, followed by 25 mothers who without any psychological aid felt lonely. Furthermore, 30 mothers suffered from a lack of communication with nurses and with medical staff concerning deformities. The anxiety of mothers was linked, respectively to fear of their husband (33 cases), to the social environment (35 cases) and to the health care (10 cases). Conclusion: Mothers facing congenital deformity experienced painful and violent emotional distress. Therefore, the emphasis must be put on the improvement of the neonatal diagnosis and of relationship between physicians and parents in order to achieve a close support toward mothers. [Copyright &y& Elsevier]

Fifty percent of young women are not immunized against Parvovirus B19 and may be infected during their pregnancy. Because of the scarcity of the foetal complications, the behaviour to be held in case of Parvovirus B19 exposure is badly known. In this view, we realized a review of the literature to answer the questions put by Parvovirus B19 during pregnancy, in particular in case of maternal exposure. About 33% of Parvovirus B19 infections of the pregnant women are complicated by foetal contamination. This foetal infection does not always result in foetal complications. The foetal complications are more frequent before 20 weeks of gestation (11 to 15% of spontaneous abortion and foetal death, 3% of foetal hydrops). After 20 weeks of gestation, it remains 1% of foetal hydrops. Without treatment, they may sometimes lead to foetal death. In the case of Parvovirus B19 exposure, it is advisable to control the maternal serology to know its initial status. According to the result, a weekly ultrasonographic supervision will be proposed to detect foetal anaemia (ascites, pericardial effusion). In the case of foetal hydrops, an in utero transfusion reduce the risk of foetal loss. The long-term outcome of infected foetuses is mostly good. Authors describe a survival without after-effect in 90% of the cases. More ample studies are necessary to evaluate long-term neurodevelopmental outcome of hydropic foetuses. [Copyright &y& Elsevier]

Abstract: The placenta percreta is a rare form of anomaly of placental insertion threatening the maternal and foetal lives. The incidence of abnormal placental adhesion is correlated to frequency of caesarean sections and advanced maternal age. Patients who are at high risk should be identified during pregnancy by ultrasound examination with Color Doppler looking for characteristic features. The practice of MRI in case of echographic suspicion may be useful, particularly in posterior placentas. A late diagnosis, in an emergency context, leads generally to hysterectomy and even to partial resection of neighbour organs. Thus, we report the case of a conservative management associating uterine embolisation following an elective caesarean delivery at 36 weeks gestation. In postpartum, the placental involution was followed clinically and by imagery. In our case, a total abdominal hysterectomy was performed on the fifth postoperative week because of a severe antibiotics resistant infection. No blood transfusion was required and the postoperative period was uneventful. This clinical case aims to show, through an analysis of the recent data of the literature, the interest of modern imagery to select patients with suspected placenta percreta that would be suitable candidates for conservative management. [Copyright &y& Elsevier]

Abstract: Pyelo-ureteral junction abnormalities in children are most frequently discovered by prenatal ultrasound investigation. Most pyeloplasties by resection-anastomosis of the pyelo-ureteral junction are performed in young infants, usually with a posterior approach, patient prone. The indication and type of urinary pyelic drain remain debated: simple nephrostomy or double J drain. Ureteral-caliceal anastomosis is an interesting approach to rare surgical re-operations, particularly with major pyelo-ureteral dilatation. Laparoscopic surgery may prove usefulness in less small children. Endopyelotomy gives good results for post-operative stenoses. [Copyright &y& Elsevier]

Abstract: We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis. Case report. – Elisa was born in May 2000. NP-C2 disease was associated with severe respiratory distress leading to death at the age of four months. On the next pregnancy in September 2000, prenatal diagnosis was performed by means of biological tests that required four weeks response time. In December 2000, isolation of the HE1/NPC2 gene located to 14q24.3 and of some of its mutations allowed to characterize the patient as being homozygote for the nonsense mutation E20X. On the the two next pregnancies, prenatal diagnosis was performed at 12 SA, in 48 hours, by the means of mutation analysis. The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby. Conclusion. – Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. It is characterized by abnormalities of intracellular transport of endocytosed cholesterol. Diagnosis relies on biological tests that require cultured cells. Genetic heterogeneity defines two different genetic complementation groups C1 and C2. Severe and early respiratory distress is more likely to be associated with the rare type C2. Since December 2000, after identification of the disease-causing mutations in the proband, mutation analysis of gene HE1/NPC2 on direct chorionic villus samples allows early and fast (48 hours) prenatal diagnosis. [Copyright &y& Elsevier]

Abstract: With the progress of foetal ultrasonography, diagnosis of foetal tumors can be made before birth. We report five cases of prenatally detected neuroblastoma of the adrenal glands. Diagnosis was made during the third trimester in all cases. At birth no clinical sign related to the tumor was present, and urinary catecholamines were within normal ranges. On ultrasound scans the tumor was cystic in 1 case, solid in 2 cases and of mixed echogenicity in 2 cases. All children were operated on without pre or postoperative chemotherapy. In each setting the tumor was a stade neuroblastoma according to the Evans classification. All children are alive and disease-free with a follow-up of 32 months at 14 years. [Copyright &y& Elsevier]

Copyright of EMC-Hematologie is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revue Francaise des Laboratoires is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revue Francaise des Laboratoires is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revue Francaise des Laboratoires is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revue Francaise des Laboratoires is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revue Francaise des Laboratoires is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose. – The aim of this study was to evaluate the change in ureteropelvic junction management, from surgical correction to observation of the hydronephrosis. We checked wether or not it was deleterious for kidney.Materials and methods. – We retrospectively reviewed 96 charts between 1988 and 1998. Initial ultrasonography, and voiding cystourethrogram were available for all cases. Intravenous urography and diuretic renography were studied when available. Minimal follow-up of patients was one year. Patients were divided into three groups: surgery right away, surgery after observation, and observation only.Results. – Later was the diagnosis, more significant were the hydronephrosis and impairment of renal function (p < 0.01). In group operated on right away (69 cases), drainage improved, hydronephrosis decreased, but renal function did not improve significantly (p = 0.37). Sixteen patients were operated on after observation without deleterious effect for kidney. Eleven patients were only observed: hydronephrosis progressively decreased. Initial radiological results were not different between the last two groups (p > 0.05), and were not predictive of their course.Conclusion. – Initial non operative management of hydronephrosis was not dangerous for renal function. It is advisable to detect at the earliest all signs of obstruction, because surgery improves renal drainage but not renal function. [Copyright &y& Elsevier]

To describe the pre- and post-natal management of vesico-ureteric reflux in a propective study of babies presenting with vesico-ureteric reflux suspected from pre-natal ultrasonography in a tertiary paediatric center.Patients and methods. – Between 1997 and 2001, 35 children (25 boys and 10 girls) with were vesico-ureteric reflux followed for 12 to 36 months after the pre-natal detection of urinary tract anomalies. Ultrasound examination was realized at the 5th of life, retrograde cystography at the 15th if the renal pelvic dilatation measured at least 10 mm of diameter. In 11 the reflux was bilateral and 46 refluxing units were reviewed.Results. – According to the international classification of, 7% vesico-ureteric reflux were grade I, 20.5% were grade II, 32% were grade III, 18% were grade IV, 22.5% were grade V. Fourteen patients (17 refluxing units) underwent ureteric-reimplantation. Four total and two partial nephrectomies were carried out in patients < 2 years old; in 8 patients the VUR resolved spontaneously. Of the latter, 7 patients (ten refluxing grade III–IV units) are still being followed and awaiting a decision on treatment.Conclusion. – This study confirms the predominance of boys in those with antenatally suspected vesico-ureteric reflux. The spontaneous resolution or improvement during the first 3 years of life was apparent in most cases, even in those with severe reflux (grade III–V). [Copyright &y& Elsevier]

One of the major progress in fetal medicine in recent years is the increased sensitivity of sonographic screening for foetal malformations, due to technical improvement but also to a better training of professionals. Screening for chromosomal abnormalities is no longer based on maternal age alone. Second trimester maternal serum screening (MSS) is increasingly used : thus in 1997, 376 798 MSS tests were performed in France, yielding to the prenatal diagnosis of 391 cases of Down’s syndrome. First trimester sonographic nuchal translucency measurement (NTM) is an effective screening method when performed under stringent conditions. Quality control however, is more difficult to implement on a large scale for NTM than for MSS. Performing screening tests sequentially carries a danger of generating an unnecessarily high number of amniocentesis, which may be obviated by a rational calculation of an individual’s risk to carry an aneuploid baby. First trimester MSS is expected to become standard practice in the next years, probably in combination with NTM. Cytogenetics underwent substantial innovations recently, due to the ever-increasing use of molecular cytogenetics. FISH techniques allow : 1) precise analysis of unexpected structural chromosomal abnormalities diagnosed by routine amniocentesis, 2) rapid screening of the most common aneuploidies by amniocentesis when a fetal structural anomaly is detected by 3rd trimester ultrasound, 3) diagnosis of micro-deletions suspected by fetal ultrasound or post-mortem. Prenatal diagnosis by maternal blood sampling and fetal cells or DNA analysis is now part of routine clinical practice in selected cases, such as fetal sexing in families affected by an X linked disease. Thus one can select those pregnancies eligible to invasive prenatal diagnosis. Pre implantation diagnosis, which has not been legal in France until 1999 is now increasingly used as an alternative to first trimester diagnosis. As for fetal therapy, a major recent breakthrough is the prenatal management of twin to twin transfusion syndrome by either amnioreduction or laser coagulation of inter-twin vascular shunts. In addition, new pathophysiologic concepts involving the renin angiotesin system could lead to further therapeutic innovations. A European randomised trial is now being completed to establish the respective indications of drainage and Laser. All this underscores that fetal medicine is no longer solely a succession of dramatic technical breakthroughs, but is entered an era of large-scale diffusion that requires evidence based evaluation. [Copyright &y& Elsevier]

The authors report four observations of multiple pregnancies where one of the foetuses was affected by a lethal malformation. The mothers preferred palliative care after birth rather than selective termination of pregnancy (moreover impossible in one case). Three mothers were primiparous and one was multiparous. The delivery occurred by caesarian section at 30, 32, 33 and 37 weeks of gestational age. Four malformed children died after meeting with their parents at 8 minutes, 1 hour and a half, 2 hours, 4 hours after birth. This practice, which is sometimes proposed to the parents in our department, by avoiding any dangerous procedure during the prenatal period, allows parents to meet with the child, and therefore permits emergency bonding between mother and child. It thus may be a strengthening of the parenthood and attachment favoring later mourning. The limits of the perinatal palliative approach are a too big uncertainty on the nature of the malformations and the potential postnatal life expectancy, as well as the fear that the child suffers at birth and later. [ABSTRACT FROM AUTHOR]

Copyright of Revue de Stomatologie & de Chirurgie Maxillo-Faciale is the property of Masson SPA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: Vasa previa is a rare condition (1/2000 to 1/5000) in which the rupture of membranes may result in fetal haemorrhage (Benckiser''s haemorrhage). We report one unusual case of delayed Benckiser''s haemorrhage 12 hours after rupture of membranes. We point out the risk situations in which prenatal diagnosis should particularly be seeked: low-lying placenta at routine second trimester ultrasound screening, bilobate or succenturiate placenta, velamentous insertion of the umbilical cord, in vitro fertilization. A universal screening, as proposed by certain authors, is also discussed. [Copyright &y& Elsevier]

Abstract: Antenatal ultrasounds allow the detection of renal tumors, especially renal mesoblastic nephromas, but only the pathological analysis of the surgical specimen can confirm this diagnosis postnatally. Observation. – We report the prenatal discovery of a mesoblastic nephroma because of premature labour. Postnatal early surgery was decided because of possible complications in this premature infant. Histology revealed mesoblastic nephroma. Comments. – We point out the diagnostic elements of congenital mesoblastic nephroma, especially in what is related to arterial hypertension and hypercalcemia, histology and cytogenetics. [Copyright &y& Elsevier]

Copyright of EMC-Hematologie is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Case report. – A case of intrauterine intussusception causing ileal atresia is reported. The neonate presented at the age of one day with bilious vomiting, failure to pass meconium and progressive abdominal distension. A clinical diagnosis of intestinal obstruction was made, and was confirmed by plain abdominal radiographs. At laparotomy, atresia of the terminal ileum was found. The lumen of the resected distal segment contained an intussusceptum. The blind ends were resected and an anastomosis was performed. Recovery was uneventful.Comments. – Intrauterine bowel intussusception is a rare clinical entity. When intussusception occurs in the foetus and the time elapsed is enough to allow for gangrene and resorption of the intussuscepted portions of the bowel, intestinal atresia may result.Conclusions. – The careful examination of the distal blind end of the ileum aids to obtain a correct classification and etiologic diagnosis of the atresia. [Copyright &y& Elsevier]