Thierry Rousseau

Centre Hospitalier Universitaire de Dijon, Dijon, Bourgogne, France

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Publications (36)139.31 Total impact

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    ABSTRACT: Conradi-Hünermann-Happle (CDPX2) syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in males while affected females show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only 6 antenatal presentations. To better characterize the phenotype in female fetuses, we included 9 antenatally-diagnosed cases of females with EBP mutations. All cases were de novo except for two fetuses with an affected mother and one case of germinal mosaicism. The mean age at diagnosis was 22 weeks of gestation. The ultrasound features mainly included bone abnormalities: shortening (8/9 cases) and bowing of the long bones (5/9), punctuate epiphysis (7/9) and an irregular aspect of the spine (5/9). Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones. The X-inactivation pattern of the familial case revealed skewed X-inactivation in the mildly symptomatic mother and random X-inactivation in the severe fetal case. Differently affected skin samples of the same fetus revealed different patterns of X-inactivation CONCLUSION: Prenatal detection of asymmetric shortening and bowing of the long bones and cartilage stippling should raise the possibility of CPDX2 in female fetuses, especially since the majority of such cases involve de novo mutations. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
    Prenatal Diagnosis 03/2015; 35(7). DOI:10.1002/pd.4591 · 3.27 Impact Factor
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    ABSTRACT: Aim: Congenital infantile fibrosarcoma (CIFS) exceptionally occurs in the meninges, with no cases reported before or at birth. We report herein a meningeal CIFS diagnosed in a fetus at 40 weeks of gestation (WG). Case report: A 24-year-old pregnant woman was referred to the obstetrics department for vaginal bleeding. A severe right hydrocephalus due to a large tumor invading the left hemisphere and ventricles was discovered in the fetus, and medical termination of the pregnancy was achieved. Results: Histological examination revealed a highly cellular spindle or ovoid shaped cell proliferation organized in interlacing bundles; it was diffusely positive for vimentin, and scarcely for SMA (smooth muscle actin). NFs (neurofilaments), NeuN, S100 protein, desmin, GFAP (glial fibrillary acidic protein), Olig2, chromogranin, synaptophysin, CD31, CD34, BCL2, and EMA (epithelial membrane antigen) antibodies were negative. Ki67 antibody labeled 20% of the nuclei. A reverse transcription polymerase chain reaction assay was performed to detect the gene fusion ETV6-NTRK3 transcript. Despite negative results, it was concluded to be a CIFS of the meninges. Discussion: CIFS of the meninges during the fetal period has never been reported. Its diagnosis is based on immunohistochemistry, and, whenever possible, on the detection of the reciprocal translocation t (12;15) resulting in the gene fusion ETV6-NTRK3. Its prognosis depends on rapid growth and local invasiveness leading to cerebral structure damage.
    Clinical neuropathology 12/2014; 34(03). DOI:10.5414/NP300811 · 1.53 Impact Factor
  • F Tabard · C Feyeux · C Peyronel · T Rousseau · J Cottenet · P Sagot · G Macé
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    ABSTRACT: To assess the influence of the perineal-to-skull measurement by tranperineal ultrasound (TPU) on the outcome of vaginal operative extraction together with maternal and fetal morbidity. Retrospective, monocentric and descriptive study was done on 272 patients, from 2009 January 1st to 2009 December 31st. It compares the failure rate of instrumental extraction, total caesarean section rate together with the maternal morbidity (type of perineal tears and post-partum hemorrhage rate) and fetal morbidity (5' Apgar score, arterial pH, transfer in neonatal intensive care unit) to the values obtained with TPU. There is a correlation between the perineal-to-skull measurements higher or equal to 50mm at TPU and the instrumental failure rate (<50mm 0.8% vs. ≥50mm 11.9%; P<0.0001), caesarean (0.9% vs. 33.3%; P<0.0001), post-partum haemorrhage (3% vs. 11.9%; P=0.02), et paediatric intervention (16.7% vs. 31%; P=0.03). Perineal-to-skull distance measured with TPU higher or equal to 50mm is at risk of instrumental failure and maternal morbidity. Associated with clinical examination and usual obstetrical risk factors, TPU could be useful to the decision between operative vaginal delivery and prophylactic caesarean section.
    Journal de Gynécologie Obstétrique et Biologie de la Reproduction 08/2013; 42(6). DOI:10.1016/j.jgyn.2013.06.007 · 0.56 Impact Factor
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    ABSTRACT: Objectives: The purpose of this study was to determine the feasibility, reproducibility, and distribution of placental volume measurements according to the crown-rump length between 11 weeks and 13 weeks 6 days. Methods: Images were acquired in 128 pregnancies followed in Burgundy during first-trimester screening sonography using an abdominal 3-dimensional transducer. The placental volume was then calculated by the virtual organ computer-aided analysis method with a rotation angle of 30° by a single operator. Results: Placental volumes ranged from 33.3 to 107.6 cm(3) with a mean ± SD of 62.3 ± 14.8 cm(3); the 5th and 10th percentiles were 38.0 and 44.20 cm(3), respectively, whereas the 90th and 95th percentiles were 80.25 and 86.68 cm(3). An exponential relationship was found between placental volume and crown-rump length: ln placental volume = 0.018 × crown-rump length + 2.93425; ln SD = 0.15; r(2) = 0.58. Finally, the mean placental quotient, defined as the ratio of placental volume to crown-rump length, was 1 ± 0.1 cm(3)/mm; the respective percentile values were 0.74, 0.81, 1.18, and 1.29 cm(3)/mm. No associations were found between parity or smoking and the placental quotient or between obesity and the placental quotient. Intraobserver reproducibility was good, with a mean difference of 0.2 cm(3). Conclusions: Measurement of placental volume between 11 weeks and 13 weeks 6 days is reliable and reproducible and correlates strongly with crown-rump length.
    Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine 08/2013; 32(8):1477-82. DOI:10.7863/ultra.32.8.1477 · 1.54 Impact Factor
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    ABSTRACT: The aim of this study was to develop an improved technique for DNA extraction from 1 ml of uncultured AF from patients with a gestational age less than 16 weeks and to allow the use of array-CGH without DNA amplification. The DNA extraction protocol was tested in a series of 90 samples including 41 of uncultured AF at less than 16 weeks of gestation. Statistical analyses were performed using linear regression. To evaluate the sensitivity and the specificity of array-CGH on 1 ml of uncultured AF, five samples with an abnormal karyotype (three with aneuploidy, two with structural abnormalities) and five with a normal karyotype were studied. This protocol was reproducible and we were able to show a great improvement with higher yield of DNA obtained from all patients, including those with a gestational age less than 16 weeks (p = 0.003). All chromosomal abnormalities were detected and characterized by array-CGH and normal samples showed normal profiles. This new DNA extraction protocol associated with array-CGH analysis could be used in prenatal testing even when gestational age is less than 16 weeks, especially in cases with abnormal ultrasound findings.
    PLoS ONE 04/2013; 8(4):e59956. DOI:10.1371/journal.pone.0059956 · 3.23 Impact Factor
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    ABSTRACT: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. The present study aimed to determine the presence or absence of euchromatin material of 39 de novo prenatally ascertained sSMC by array-CGH or SNP array. Cases were prospectively ascertained from the study of 65,000 prenatal samples (0.060%; 95% CI, 0.042-0.082). Array-CGH showed that 22 markers were derived from non-acrocentric markers (56.4%), seven from acrocentic markers (18%). The 10 additional cases remained unidentified (25.6%), but 7/10 could be further identified using FISH. Sixty-nine per cent of de novo sSMC contained euchromatin material, 95.4% of which for non-acrocentric markers. Some sSMC containing euchromatin had a normal phenotype (31% for non-acrocentric, 75% for acrocentric markers). Statistical differences between normal and abnormal phenotypes were demonstrated for the size of the euchromatin material (more or less than 1Mb, p=0.0006) and number of genes (more or less than 10, p=0.0009). This study is the largest to date and demonstrates the utility of array-CGH / SNP array in the detection and characterization of de novo sSMC in a prenatal context.
    Clinical Genetics 03/2013; 85(3). DOI:10.1111/cge.12138 · 3.93 Impact Factor
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    ABSTRACT: Ergonomics and prevention of musculoskeletal disorders in obstetric sonography is a subject seldom discussed. However, 80% of sonographers describe pain when performing these examinations. The consequences of these disorders can range from impaired quality of life to the complete cessation of professional activity. Some diseases may even require surgical treatments such as carpal tunnel syndrome and shoulder rotator cuff injuries. After joint disorders mainly affecting the upper limbs and neck, deterioration of visual acuity is the second most commonly reported condition. A literature review can identify risk factors, particularly arm abduction greater than 30°, repeated isometric maneuvers without compensatory rest, the level of force applied to the probe, abdominal scanning approaches, examination times longer than 25 minutes, and more than 100 sonographic examinations per month. The ergonomics of the operator's workstation and posture are essential to prevent these disorders. Machine, probe, chair, and examination bed designs are already subject to industrial consensus, but sonographers are responsible for configuring their ideal workstations to preserve their professional and physical potential. Therefore, this article proposes rules of good practice and illustrates recommended positions and those to avoid.
    Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine 01/2013; 32(1):157-64. · 1.54 Impact Factor
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    ABSTRACT: Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices. Two different questionnaires were produced. Fifty geneticists filled in the questionnaire. Twenty-two per cent thought that PND was acceptable, 72% debatable and 6% not acceptable. Preimplantation genetic diagnosis was more often reported acceptable (34% of answers). Results varied according to the physician's experience with the disease. Fifty-four answers were collected for patients' questionnaires. Most of them (74%) were favourable to the development of prenatal testing, and believed that the choice should be given to parents. However, only a minority would opt for prenatal diagnosis for themselves. This study showed that the majority of patients were in favour of PND and that opinions among practitioners varied widely, but that overall, practitioners favoured a systematic multidisciplinary evaluation of the couple's request.
    Prenatal Diagnosis 12/2012; 32(13). DOI:10.1002/pd.4008 · 3.27 Impact Factor
  • Prenatal Diagnosis 09/2011; 31(9). DOI:10.1002/pd.2793 · 3.27 Impact Factor
  • American Journal of Medical Genetics Part A 08/2011; 155A(8):2031-4. DOI:10.1002/ajmg.a.34105 · 2.16 Impact Factor
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    ABSTRACT: Glomuvenous malformations are hereditary vascular anomalies, usually without extracutaneous involvement. We report two cases of extensive thoracic plaque-type glomuvenous malformation in newborns who had previously been diagnosed in utero with pleural effusion and ascites, suggesting a pathogenic link between the two conditions.
    Pediatric Dermatology 12/2010; 28(5):528-31. DOI:10.1111/j.1525-1470.2010.01216.x · 1.02 Impact Factor
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    ABSTRACT: Extralobar pulmonary sequestrations (EPS) are a rare benign congenital bronchopulmonary foregut malformation. Complete resection is necessary to confirm the diagnosis with histopathologic examination. The aim of this study was to describe the laparoscopic minimally invasive surgery (MIS) for a small series of ectopic EPS in small children and to show its feasibility and safety. From January 2001 to December 2008, 12 cases of EPS were prenatally diagnosed and retrospectively reviewed. From this group, we isolated 6 children with ectopic EPS. Ages ranged from 15 days to 14 months. Three infants were symptomatic, and the others showed persistence of the lesion with parental anxiety. All prenatal diagnoses were confirmed by postnatal Doppler ultrasound and intravascular contrast computed tomography scan with 3-dimensional reconstructions. Postnatally, all were ectopic lesions: 3 were hiatal and intradiaphragmatic, 3 infradiaphragmatic and left paramedian. Laparoscopic MIS consisted of 4 small trocars and low-pressure pneumoperitoneum. We carried out a retroesophageal dissection in 4 cases, an elective control of systemic vessels, and a removal of the EPS with histologic study. We performed 5 procedures laparoscopically and 1 thoracoscopically. There were 2 abdominal conversions. Nevertheless, no intraoperative or immediate postoperative complications occurred. Hospital stay ranged from 1 to 5 days (mean, 2.7 days). The diagnosis of pure pulmonary sequestration with feeding vessels in 5 cases was confirmed by histopathology. Follow-up ranged from 13 to 84 months (mean, 43 months). Late complications were benign. Laparoscopic MIS for ectopic EPS in small children is a feasible and safe technique. The great magnification provided by the endoscopic procedure allows for the search of associated congenital anomalies, meticulous retroesophageal dissection, and control of the systemic vessels. Resection provides definitive diagnosis and treatment, and confers the benefits of a minimal access technique.
    Journal of Pediatric Surgery 11/2010; 45(11):2269-73. DOI:10.1016/j.jpedsurg.2010.06.033 · 1.39 Impact Factor
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    ABSTRACT: To evaluate the impact of maternal age and prenatal diagnosis on the prevalence of Down's syndrome at birth in French population sample. Data concerning Down's syndrome from 1978 to 2005 were obtained from the REMERA registry of congenital malformations. The population surveyed was approximately 10% of French births. We studied total prevalence, live-birth prevalence and the prevalence of pregnancy termination after prenatal diagnosis. Mean maternal age has risen from 26 to 30 years over the study period. Total prevalence of Down's syndrome has increased from 14 per 10,000 in 1978 to 23 per 10,000 live-births in 2005. Termination of pregnancy after prenatal diagnosis of Down's syndrome gradually increased reaching 78% in 2005. Live-birth prevalence decreased from 14 per 10,000 in 1978 to 5.1 per 10,000 in 2005. This work shows the importance of continuing the epidemiological survey of Down's syndrome in France, especially because of the modification in population ageing as well in prenatal screening policies for Down's syndrome.
    Journal de Gynécologie Obstétrique et Biologie de la Reproduction 06/2010; 39(4):290-6. DOI:10.1016/j.jgyn.2010.03.008 · 0.56 Impact Factor
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    ABSTRACT: To evaluate the impact of demographic factors such as maternal age on the expected prevalence of Down's syndrome at birth. We used data from the French National Institute of Statistics (INSEE) concerning live births and maternal age. Expected prevalence at birth is derived from a mathematical regression model commonly used in biochemical screening. We present continuous expected prevalence at birth over a long period, from 1965 to 2008. Over the last three decades, mean maternal age has increased by 4 years, leading to a two-fold increased in the expected live-birth prevalence of Down's syndrome infants, from 12.1 per 10,000 in 1977 to 21.7 per 10,000 in 2008. It is important to continue to consider the impact modifications in demographic factors, such as maternal age, particularly in the evaluation of screening practices and policies for Down's syndrome.
    Journal de Gynécologie Obstétrique et Biologie de la Reproduction 04/2010; 39(4):284-9. DOI:10.1016/j.jgyn.2010.03.001 · 0.56 Impact Factor
  • Prenatal Diagnosis 10/2009; 29(10):1002-5. DOI:10.1002/pd.2333 · 3.27 Impact Factor
  • Prenatal Diagnosis 09/2009; 29(9):892-4. DOI:10.1002/pd.2302 · 3.27 Impact Factor
  • T Rousseau · C Ferdynus · C Quantin · J-B Gouyon · P Sagot
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    ABSTRACT: To build a reference chart for birth weight according to gestational age based on a newborn population from single uncomplicated pregnancies. We have used data from the Burgundy perinatal network for the years 2000 to 2005. We can exclude, with a validate linkage procedure of all mother-newborn couples, the whole of newborns from pregnancies complicated by mellitus diabetes or pre eclampsia. After statistical validation, the birth weights were modelled and graphically represented. We have used 105,665 data from the "healthy" sample to construct a birth weight distribution according to gestational age at 28 to 42 weeks'. Results are also represented adjusted for sex. We present an original birth weight distribution according to gestational age from a recent French population sample. Exclusion of maternal conditions which may affect fetal growth modify the data distribution, mainly for low birth weights and premature deliveries. Used in clinical practice, it could lead to better identify newborns with increased risk of postnatal complications.
    Journal de Gynécologie Obstétrique et Biologie de la Reproduction 04/2008; 37(6):589-96. DOI:10.1016/j.jgyn.2008.01.009 · 0.56 Impact Factor
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    ABSTRACT: Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel-Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, bilateral multicystic kidneys, enlarged bladder and urethral atresia. The fetal chromosome analysis showed a maternally inherited unbalanced translocation between the short arm of chromosome 1 and the long arm of chromosome 14, resulting in 1p35-pter deletion and 14q32-qter duplication (46,XY,der(1),t(1;14)(p35;q32)). Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele.
    Prenatal Diagnosis 06/2007; 27(6):555-9. DOI:10.1002/pd.1724 · 3.27 Impact Factor
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    ABSTRACT: Casamassima-Morton-Nance syndrome belongs to the heterogeneous group of spondylocostal dysostoses (SCD) represented by a large heterogeneous group in which diverse diagnoses, associations and modes of inheritance are found. Common features include segmentation abnormalities of the vertebrae and ribs. Here, we report on a fetal case with spondylocostal dysostosis, anal and genitourinary malformations and discuss Casamassima-Morton-Nance syndrome. (c) 2006 Elsevier Masson SAS. All rights reserved.
    European Journal of Medical Genetics 01/2007; 50(1):85-91. DOI:10.1016/j.ejmg.2006.08.001 · 1.47 Impact Factor
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    ABSTRACT: We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester. Cytogenetic studies performed on amniocytes revealed a normal female karyotype. Autopsy after termination of pregnancy showed facial dysmorphism, cleft palate, bowed, shortened limbs, hypoplasia of the preaxial elements in all four limbs with accompanying accessory ossification centres in the feet, and severe calvarial underossification. A diagnosis of otopalatodigital syndrome type 2, associated with mutations in FLNA, a gene encoding the cytoskeletal protein filamin A, was considered but discarded due to the severity of micromelia, early lethality, and the presence of generalised osteopenia instead of hyperostosis. The degree of undermodelling and campomelia was reminiscent of another group of conditions that include atelosteogenesis types 1 and 3, caused by mutations in FLNB. Sequencing analysis did not reveal any pathogenic mutation in the three paralogous filamin genes: FLNA, FLNB and FLNC. Clinical, radiological and cytogenetic findings suggest that this phenotype is a new entity whose aetiopathogenesis may be functionally related to the filaminopathies.
    Prenatal Diagnosis 12/2006; 26(12):1151-5. DOI:10.1002/pd.1576 · 3.27 Impact Factor