Alexandra Benachi

Unité Inserm U1077, Caen, Lower Normandy, France

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Publications (241)713.05 Total impact

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    ABSTRACT: Over the past 20 years, prenatal detection of congenital diaphragmatic hernia (CDH) has improved worldwide, reaching up to 60% in Europe. Pulmonary hypoplasia and persistent pulmonary hypertension are the two main determinants of neonatal mortality and morbidity, so new tools have been focused on their evaluation. Fetal surgery for severe cases requires proper evaluation of the prognosis of fetuses with CDH. Observed-to-expected lung-to-head ratio, liver position, and total lung volume measured by magnetic resonance are the prognostic factors most often used, and have been shown to correlate not only with neonatal mortality but also with morbidity. In daily practice, pulmonary hypertension by itself, although most often associated with lung hypoplasia, is more difficult to predict.
    Seminars in Fetal and Neonatal Medicine 10/2014; · 3.51 Impact Factor
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    ABSTRACT: The end of 2012 was marked by some media alerts regarding combined hormonal contraceptives (CHC) and lawsuit against pharmaceutical companies selling these birth control pills. In this study, we analyzed whether these information had an impact on the number of abortion.
    Journal de gynecologie, obstetrique et biologie de la reproduction. 09/2014;
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    ABSTRACT: Fetal hydrops and myocarditis were diagnosed in a woman at 32 weeks of gestation (WG). Transplacental enterovirus infection was suspected because all other causes of myocarditis and hydrops were excluded, it was during an endemic period, and there was a setting of maternal infection (fever a few days before). We opted for in utero treatment because of the risk of resuscitating a neonate with myocarditis and hydrops. We administered dexamethasone 12 mg twice for pulmonary maturation and presumed it would partially improve the myocarditis. Fetal arrhythmia was noted at 35 WG and we decided to deliver the infant as postnatal treatment of the heart disorder would be more effective. RT-PCR (ARGENE®) showed that the neonate's throat and anal tissues and cord blood sampled on the day of birth contained enterovirus ribonucleic acid and coxsackievirus B5, as did the mother's anal sample. Laboratory tests, heart MRI and probably brain MRI indicated neonatal enterovirus infection. Findings were normal at two-year follow-up.
    Journal of Clinical Virology 09/2014; · 3.29 Impact Factor
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    ABSTRACT: We identified three doublesex and mab-3-related transcription factors (DMRT) that were sexually differentially expressed in human fetal gonads and present in the ovaries at the time of meiotic initiation. These were also identified in murine embryonic female germ cells. Among these, we focused on DMRTA2 (DMRT5), whose function is unknown in the developing gonads, and clarified its role in human female fetal germ cells, using an original xenograft model. Early human fetal ovaries (8 to 11 weeks post- fertilization) were grafted into nude mice. Grafted ovaries developed normally, with no apparent overt changes, when compared to ungrafted ovaries at equivalent developmental stages. Appropriate germ cell density, mitotic /meiotic transition, markers of meiotic progression and follicle formation were evident. Four weeks after grafting, mice were treated with siRNA, specifically targeting human DMRTA2 mRNA. DMRTA2 inhibition triggered an increase in undifferentiated FUT4-positive germ cells and a decrease in the percentage of meiotic γH2AX-positive germ cells, when compared with mice that were injected with control siRNA. Interestingly, the expression of markers associated with pre-meiotic germ cell differentiation was also impaired, as was the expression of DMRTB1 (DMRT6) and DMRTC2 (DMRT7). This study reveals, for the first time, the requirement of DMRTA2 for normal human female embryonic germ cell development. DMRTA2 appears to be necessary for proper differentiation of oogonia, prior to entry into meiosis, in the human species. Additionally, we developed a new model of organ xenografting, coupled with RNA interference, which provides a useful tool for genetic investigations of human germline development.
    Molecular Human Reproduction 07/2014; · 4.54 Impact Factor
  • Journal de gynecologie, obstetrique et biologie de la reproduction. 07/2014;
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    Cell reports. 05/2014; 7(4):933-4.
  • PLoS ONE 04/2014; · 3.53 Impact Factor
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    ABSTRACT: Abstract Objective: To describe a new grading method for stomach position(SP) in fetuses with left-sided congenital diaphragmatic hernia(L-CDH) using ultrasound and to correlate SP to liver position and to liver-to-thoracic cavity volume ratio(LiTR) using magnetic resonance imaging. Methods: SP were graded at the level of the 4-chamber view as following: grade 1-to-4 respectively for stomach not visualised, visualised anteriorly at the apex of the heart, stomach showing abdominal structures anteriorly and stomach with its larger part posterior to the level of the atrial-ventricular heart valves. The LiTR was calculated and correlated to SP using the Mann-Whitney U-test. Results: Seventy-four fetuses were included. Median LiTR for grade 1 SP was 0% and was not different from median LiTR for grade 2 SP(0%, p=NS). Median LiTR for grade 3 SP was 14.9% and was significantly higher than for grade 2 SP(p<0.001). Similarly, median LiTR for grade 4 SP was 20.7% and was significantly higher than for grade 2 SP(p<0.05). When SP was grade 1 or 2, liver was intra-abdominal in 21(84%) out of 25 fetuses while it was always intrathoracic for SP 3 or 4. Conclusion: In L-CDH, SP as described represents a simple indirect measurement of intrathoracic position and quantification of liver.
    The journal of maternal-fetal & neonatal medicine: the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 03/2014; · 1.36 Impact Factor
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    ABSTRACT: To describe precisely prenatal ultrasound features in congenital cytomegalovirus (CMV) infection. We retrospectively evaluated the ultrasound descriptions of cases of congenital CMV infection between 2004 and 2013. In 69 congenital CMV infections, related ultrasound abnormalities were reported in 30 cases (43.5%). There were both extracerebral and cerebral abnormalities in 16 cases, purely abnormal brain features in 10, and purely extracerebral features in 2. 19/30 cases presented extracerebral features of 11 different sorts of abnormalities, mainly hyperechogenic bowel (10 cases) and intrauterine growth retardation (9 cases). 24/30 cases presented cerebral features of 13 different sorts, mainly brain calcifications (12 cases) and occipital horn cavity (11 cases). The main ultrasound findings in our series are not specific to CMV infection. However, a frequent finding attracted our attention: the anechogenic cavity located on the extremity of the occipital horn, a region which contains numerous proliferating and differentiating germinal cells. By improving knowledge of ultrasound findings linked to CMV infection, ultrasound sensitivity may be improved. Understanding why CMV leads to lesions of the occipital horn may help clarify the pathophysiology of congenital infection. This article is protected by copyright. All rights reserved.
    Prenatal Diagnosis 02/2014; · 2.68 Impact Factor
  • Alexandra Benachi, Jean-Marc Costa
    Journal de Gynécologie Obstétrique et Biologie de la Reproduction 02/2014; · 0.45 Impact Factor
  • Mikaël Tassin, Alexandra Benachi
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    ABSTRACT: To review prognostic parameters reported recently in the evaluation of abdominal wall defects in the first trimester. Evaluation of abdominal wall defects in the first trimester is based principally on associated structural or chromosomal anomalies. In the case of gastroschisis, which is rarely associated with other anomalies, evaluation of prenatal or postnatal outcome is based mainly on the course of pregnancy. In the case of isolated omphalocele in the first trimester, recent studies have evaluated parameters that could help predict prenatal or postnatal outcome. We review recent studies using new parameters to diagnose abdominal wall defects in the first trimester and to provide early prenatal counselling to parents regarding prenatal and postnatal prognosis.
    Current opinion in obstetrics & gynecology 02/2014; · 2.49 Impact Factor
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    ABSTRACT: Fetal testis is a major target of endocrine disruptors (EDs). During the last twenty years, we have developed an organotypic culture system that maintains the function of the different fetal testis cell types and used this approach as a toxicological test to evaluate the effects of various compounds on gametogenesis and steroidogenesis in rat, mouse and human testes. We named this test rat, mouse and human Fetal Testis Assay (r/m/hFeTA). With this approach, we compared the effects of 6 potential EDs [(mono-(2-ethylhexyl) phthalate (MEHP), cadmium, depleted uranium, diethylstilboestrol (DES), bisphenol A (BPA) and metformin] and one signalling molecule [retinoic acid (RA)] on the function of rat, mouse and human fetal testis at a comparable developmental stage. We found that the response is similar in human and rodent for only one third of our analyses. For instance, RA and MEHP have similar negative effects on gametogenesis in the 3 species. For another third of our analyses, the threshold efficient concentrations that disturb gametogenesis and/or steroidogenesis differ as a function of the species. For instance, BPA and metformin have similar negative effects on steroidogenesis in human and rodents, but at different threshold doses. For the last third of our analyses the qualitative response is species-specific. For instance, MEHP and DES affect steroidogenesis in rodents, but not in human fetal testis. These species differences raise concerns about the extrapolation of data obtained in rodents to human health risk assessment and highlight the need of rigorous comparisons of the effects in human and rodent models, when assessing ED risk.
    Reproduction 02/2014; · 3.56 Impact Factor
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    ABSTRACT: Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de novo, ranging from 1.1 Mb to 11.5 Mb. Compared with previously reported conventional cytogenetic analyses, oligonucleotides array CGH allowed us to refine breakpoints and determine the genes of interest in the region. Involvement of SALL4 in cardiac malformations and NFATC2 gene disruption in both cardiac and skeletal anomalies are discussed.
    European journal of medical genetics 01/2014; · 1.57 Impact Factor
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    ABSTRACT: Introduction The end of 2012 was marked by some media alerts regarding combined hormonal contraceptives (CHC) and lawsuit against pharmaceutical companies selling these birth control pills. In this study, we analyzed whether these information had an impact on the number of abortion. Methods Prospective study determining the number of women asking for abortion and who spontaneously declare that the contraception defect was due to an abandon of their oral contraception as they were scared of some information they received from media about the medication. Results Eleven centers out of 16 did participate to the study, allowing the study of 2300 abortion during this time frame. Ninety-eight of these pregnancies (4.2%) were due to an interruption of the contraceptive treatment as a consequence of media alerts. Average age was 26 years old. Within these pregnancies, 4 (6%) started in December 2012, 3 months after the beginning of the alerts, 11 (16%) in January, 24 (36%) in February and 18 (27%) in March 2013 (4–6 months later). In 7 cases (10%) CHC stopped by fear of information reported by media were of 2nd generation, in 17 cases (25%) of 3rd generation, in 32 cases (48%) of 4th generation and microprogestative in 2 cases (3%). Conclusion Women who declared that they stopped their birth control medication by fear of information reported in media, represented 4% of the number of abortions performed between 2013 February 18th and 2013 April 30th.
    Journal de Gynécologie Obstétrique et Biologie de la Reproduction. 01/2014;
  • Alexandra Benachi, Jean-Marc Costa
    Journal de Gynécologie Obstétrique et Biologie de la Reproduction. 01/2014;
  • Alexandra Benachi, Sabine Sarnacki
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    ABSTRACT: With the development of prenatal ultrasound and of foetal medicine, the paediatric surgeon has extended his knowledge of the natural history of surgical malformations. He is a part of the prenatal team and parents should always be referred to him when a surgical malformation is suspected, even when termination of pregnancy is planned because of an expected poor prognosis. Direct contact between the prenatal medicine specialist and the paediatric surgeon is also highly recommended to ensure continuity in the messages delivered to the parents. Postnatal counselling does not compare with prenatal counselling and the paediatric surgeon has learned from the obstetrician to modulate his talk by including other conditions that might affect the outcome of the foetus, especially genetically determined syndromes. When the foetal malformation is diagnosed very early, especially in the first trimester, it therefore seems important for the consultation with the paediatric surgeon to be scheduled when the complementary exams required by the anomalies diagnosed are done, in order to avoid later contradictory messages. Repeated consultations should be favoured as they allow provision of more precise information regarding changes in ultrasound and/or MRI images and so decrease parents’ anxiety and help them to take their decision. Foetal surgery, which has reached various stages of development in different countries, requires paediatric surgeons and obstetricians to join forces to optimize procedures and evaluate their benefit/risk ratio. Since 2004, the National Rare Disease Plan in France has allowed the creation of Rare Disease Centres, which deal with congenital malformations and produce recommendations for the healthcare pathway of these patients by means of a multidisciplinary approach. This greatly enhances interdisciplinary communication and ensures that best care is provided to the parents to be and to their child.
    Seminars in Pediatric Surgery. 01/2014;
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    ABSTRACT: To evaluate the accuracy of ultrasonography and magnetic resonance imaging (MRI) in the diagnosis of placenta accreta and to define the most relevant specific ultrasound and MRI features that may predict placental invasion. This study was approved by the institutional review board of the French College of Obstetricians and Gynecologists. We retrospectively reviewed the medical records of all patients referred for suspected placenta accreta to two university hospitals from 01/2001 to 05/2012. Our study population included 42 pregnant women who had been investigated by both ultrasonography and MRI. Ultrasound images and MRI were blindly reassessed for each case by 2 raters in order to score features that predict abnormal placental invasion. Sensitivity in the diagnosis of placenta accreta was 100% with ultrasound and 76.9% for MRI (P = 0.03). Specificity was 37.5% with ultrasonography and 50% for MRI (P = 0.6). The features of greatest sensitivity on ultrasonography were intraplacental lacunae and loss of the normal retroplacental clear space. Increased vascularization in the uterine serosa-bladder wall interface and vascularization perpendicular to the uterine wall had the best positive predictive value (92%). At MRI, uterine bulging had the best positive predictive value (85%) and its combination with the presence of dark intraplacental bands on T2-weighted images improved the predictive value to 90%. Ultrasound imaging is the mainstay of screening for placenta accreta. MRI appears to be complementary to ultrasonography, especially when there are few ultrasound signs.
    PLoS ONE 01/2014; 9(4):e94866. · 3.53 Impact Factor
  • Journal de Gynécologie Obstétrique et Biologie de la Reproduction. 01/2014;
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    ABSTRACT: Polymicrogyria (PMG) is a clinically heterogeneous malformation of cortical development, characterized by a loss of the normal gyral pattern that is replaced by many small and infolded gyri separated by shallow sulci that are partly fused in their depths. Causes of PMG are heterogeneous and include acquired and genetic causes. There are more than 100 syndromes possibly associated with PMG but mutations in specific genes such as SRPX2, GPR56, TUBB2B, TUBB3, NHEJ1, TUBA1A, TUBA8, and WDR62 have been reported only in a minority of patients.
    Neurogenetics 09/2013; · 3.58 Impact Factor
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    ABSTRACT: Vitamin D insufficiency is characterized, since 2005, by 25(OH)D concentration less than 75nmol/L (or 30ng/mL). Vitamin D could interfere with many mechanisms involved in preeclampsia's pathogenesis including trophoblastic invasion and immunomodulation as well as blood pressure control and proteinuria. Occurrence of preeclampsia and gestational diabetes seems to be linked to vitamin D deficiency but recent data in the literature are contradictory. Vitamin D supplementation during pregnancy is controversial. Some societies consider it unnecessary and others recommend up to 2000UI/d. There is no reported case of teratogenicity linked with vitamin D intake.
    La Presse Médicale 09/2013; · 0.87 Impact Factor

Publication Stats

2k Citations
713.05 Total Impact Points


  • 2010–2014
    • Unité Inserm U1077
      Caen, Lower Normandy, France
    • Université Paris-Sud 11
      • Faculty of Medicine
      Orsay, Île-de-France, France
  • 2013
    • Hôpital Foch
      Lutetia Parisorum, Île-de-France, France
  • 2011–2013
    • Hôpital Antoine-Béclère – Hôpitaux universitaires Paris-Sud
      Clamart, Île-de-France, France
    • University-Hospital Brugmann UVC
      Bruxelles, Brussels Capital Region, Belgium
    • Hôpital Ambroise Paré – Hôpitaux universitaires Paris Ile-de-France Ouest
      Billancourt, Île-de-France, France
  • 2007–2013
    • Université René Descartes - Paris 5
      • • Faculté de Médecine
      • • Faculté de Médecine
      Paris, Ile-de-France, France
  • 2012
    • University of Burgundy
      Dijon, Bourgogne, France
  • 2010–2012
    • Centre Hospitalier Régional Universitaire de Lille
      Lille, Nord-Pas-de-Calais, France
  • 2007–2012
    • Assistance Publique – Hôpitaux de Paris
      Lutetia Parisorum, Île-de-France, France
  • 2008–2011
    • Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
      San Paulo, São Paulo, Brazil
    • Hôpital de Poissy Saint Germain en Laye
      Saint-Germain, Île-de-France, France
  • 2005–2010
    • French Institute of Health and Medical Research
      • Institut Mondor de Recherche Biomédicale (IMRB) U955
      Paris, Ile-de-France, France
  • 2005–2009
    • Université Paris Descartes
      • Faculté de Médecine
      Lutetia Parisorum, Île-de-France, France
  • 2006–2008
    • Universitair Ziekenhuis Leuven
      • Department of Gynaecology and obstetrics
      Leuven, VLG, Belgium
  • 2005–2008
    • College of Obstetrics and Gynecology of Leon
      Aquitaine, France
  • 2006–2007
    • Université Paris-Est Créteil Val de Marne - Université Paris 12
      • Faculty of medicine
      Créteil, Île-de-France, France
  • 2002–2007
    • Hôpital Universitaire Necker
      Lutetia Parisorum, Île-de-France, France
  • 2005–2006
    • Hadassah Medical Center
      • Department of Obstetrics and Gynaecology
      Jerusalem, Jerusalem District, Israel