Center Pluridisciplinaire Of Diagnostic Prenatal

Paris, France

Center Pluridisciplinaire Of Diagnostic Prenatal

Paris, France

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PubMed | University of Amsterdam, Amrita Institute of Medical science and Research Center, Service de Genetique, Montpellier University and 9 more.
Type: Journal Article | Journal: Clinical genetics | Year: 2016

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nuclear RNA which is a critical component of the minor spliceosome. We report here four foetuses and four unrelated patients with RNU4ATAC mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features. We also carried out a literature review of the patients described up to now with RNU4ATAC mutations, affected either with TALS or Roifman syndrome, a recently described allelic disorder.


Azzi C.,Center Pluridisciplinaire Of Diagnostic Prenatal | Giaconia M.-B.,Hopital Femme Mere Enfant | Lacalm A.,Hopital Femme Mere Enfant | Massoud M.,Center Pluridisciplinaire Of Diagnostic Prenatal | And 2 more authors.
Prenatal Diagnosis | Year: 2014

Objective: The objective of this article is to describe the diagnostic significance of prenatal identification of dilated supra-pineal recess (SPR) in cases of ventriculomegaly. Method: A retrospective study, based on neurosonography and magnetic resonance imaging, of a series of five prenatal cases referred to our institution because of ventriculomegaly associated with dilatation of the SPR. Results: Ventriculomegaly of obstructive origin was diagnosed in all cases and related to obstruction downstream of the third ventricle. The diagnosis in the five prenatal cases, confirmed on early post-natal imaging, included the following: malformative aqueductal stenosis, ischemic-haemorrhagic parenchymal supra-tentorial insult complicated by aqueductal stenosis, Blake's pouch cyst, cystic lesion of the posterior fossa and sub-ependymal haemorrhage and Dandy-Walker malformation. In all cases, the third ventricle was prominent and associated with a dilated SPR. In two cases, the dilatation of the SPR was an early clue to e obstructive ventriculomegaly, which was initially minor and became severe on follow-up imaging. Conclusion: The presence of a dilated SPR prenatally in the presence of even mild ventriculomegaly should prompt evaluation and follow-up for the presence of obstructive ventriculomegaly with obstruction located downstream of the third ventricle. © 2014 John Wiley & Sons, Ltd.


Lacalm A.,Hopital Femme Mere Enfant | Nadaud B.,Laboratoire Of Pathologie | Massoud M.,Center Pluridisciplinaire Of Diagnostic Prenatal | Putoux A.,Hopital Femme Mere Enfant | And 3 more authors.
Ultrasound in Obstetrics and Gynecology | Year: 2016

We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. This pattern was encountered in four index cases and allowed prenatal diagnosis of CL associated with Walker-Warburg syndrome. The pattern included both an outer echogenic band with reduced pericerebral space, corresponding to an infra- and supratentorial extracortical layer of neuroglial overmigration on pathological examination, and a 'Z'-shaped appearance of the brainstem. This pattern was found as early as 14 weeks' gestation in one of our cases. © Copyright 2015 ISUOG. Published by John Wiley & Sons Ltd.


PubMed | Service dimagerie pediatrique et prenatale and Center Pluridisciplinaire Of Diagnostic Prenatal
Type: Journal Article | Journal: Diagnostic and interventional imaging | Year: 2016

The goal of this study was to investigate the capability of T2-weighted magnetic resonance imaging (MRI) in revealing fetal bowel malposition.All fetal MRI examinations (excluding central nervous system MRI examinations) performed in our department from January 2005 to January 2014 were retrospectively studied by 2 independent observers for situs, stomach and jejunum location on T2-weighted images. Patients data were also reviewed for results of ultrasound examinations, MRI indication, and gestational age. Abnormally positioned jejunums were classified into 3 groups: intrathoracic (A), extra-fetal (B) and abnormal intra-fetal (C). Prenatal data were compared to postnatal imaging, surgery or autopsy findings that served as standard of reference.A total of 709 fetal MRI examinations were analyzed. In 64 fetus (9%), the jejunum was not present in the left subgastric area on T2-weighted MR images. In these 64 fetuses, proximal jejunum was intrathoracic (41/64, 64%, group A), extra-fetal (11/64, 17%, group B), or intra-abdominal but abnormally positioned (12/64, 19%, group C). Interobserver agreement was 100%. All diagnoses for fetuses in groups A and B (52 cases) were confirmed postnatally (41 cases) or at autopsy (11 cases). In group C, bowel malposition was suspected after ultrasound in only 2/12 fetuses (16.6%); it was confirmed postnatally in 1 fetus but not confirmed in the remaining one. In the 10 remaining fetuses (83%), malposition was confirmed postnatally although not initially suspected.T2-weighted fetal MR images are useful for the prenatal diagnosis of bowel malposition, even when they are unsuspected on ultrasound examination.


PubMed | Center de reference des anomalies du developpement et syndrome malformatif, Paris-Sorbonne University, APHP Hopital Robert DEBRE, Center Pluridisciplinaire Of Diagnostic Prenatal and 2 more.
Type: Journal Article | Journal: American journal of medical genetics. Part A | Year: 2016

Our study was designed to analyze prenatal manifestations in patients affected with cardio-facio-cutaneous syndrome (CFCS), in order to define indications of DNA testing in utero. Prenatal features were extracted from a national database and additional data were collected from 16 families contacted through the French association of CFC-Costello syndrome. We collected results of ultrasound scan (USS) biometrics, presence of congenital birth defects, and polyhydramnios. From the database, increased nuchal translucency was present in 13% of pregnancies, polyhydramnios in 52%, macrosomia and/or macrocephaly in 16%. Of the 16 pregnancies, 81% were complicated by abnormal USS findings. Polyhydramnios was reported in 67%. Head circumference, biparietal diameter, and abdominal circumference were above the 90th centile in 72%, 83% and, 81% of fetuses, respectively. Contrasting with macrosomia, femur length was below the 10th centile in 38%. Urinary tract abnormalities were found in 47% of fetuses. Most CFCS fetuses showed a combination of macrocephaly, macrosomia, and polyhydramnios, contrasting with relatively short femora. This growth pattern is also seen in Costello syndrome. We suggest that screening for CFCS and Costello gene mutations could be proposed in pregnancies showing this unusual pattern of growth parameters.


PubMed | Service de Genetique, Hopital Femme Mere Enfant, Groupement Hospitalier Est and Center Pluridisciplinaire Of Diagnostic Prenatal
Type: | Journal: Journal of inherited metabolic disease | Year: 2016

Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions-especially in cases of consanguinity and/or recurrence of symptoms-after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses. These anomalies can be isolated, but in most cases, an IEM is suggested by an association of features. It must be stressed that the diagnosis of an IEM in the prenatal period is based on a close collaboration between specialists in fetal imaging, medicine, genetics, biology, and pathology.


PubMed | Hopital Femme Mere Enfant, Laboratoire Of Pathologie and Center Pluridisciplinaire Of Diagnostic Prenatal
Type: Case Reports | Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology | Year: 2016

We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. This pattern was encountered in four index cases and allowed prenatal diagnosis of CL associated with Walker-Warburg syndrome. The pattern included both an outer echogenic band with reduced pericerebral space, corresponding to an infra- and supratentorial extracortical layer of neuroglial overmigration on pathological examination, and a Z-shaped appearance of the brainstem. This pattern was found as early as 14 weeks gestation in one of our cases.


PubMed | Service dimagerie pediatrique et prenatale, Institute Mediterraneen Of La Reproduction, Center Pluridisciplinaire Of Diagnostic Prenatal, Unite dechographies obstetricales and Service de chirurgie plastique pediatrique
Type: Journal Article | Journal: Diagnostic and interventional imaging | Year: 2016

To evaluate the added value of fetal magnetic resonance imaging (MRI) in diagnosing and assessing isolated orofacial clefts and compare MRI with second-line diagnostic ultrasound.In a two-year prospective bicenter study, fetuses with isolated orofacial clefts were reassessed using second-line diagnostic ultrasound and MRI. The results of second line ultrasound and those MRI were compared to each other. The gestational age at the time of ultrasound and MRI, and the final diagnosis for each of the imaging modalities were recorded. Finally, the results of second line ultrasound and those of MRI were compared to the results of neonatal clinical examination after delivery that served as standard of reference.Twenty-two women were included after informed consent was obtained. On average, diagnostic ultrasound was performed at 25.5weeks of gestation (range: 24-34weeks) and MRI at 29.5weeks of gestation (range: 27-34weeks). The results of ultrasound and those of MRI findings were strictly consistent in 20 women (20/22; 91%) but differed in 2 women (2/22; 9%). For all fetuses, the final radiological diagnosis was confirmed by clinical examination after delivery.If ultrasound examination proves technically challenging, fetal MRI can be used to obtain the same diagnostic information in 91% of cases and can help surgeons and interdisciplinary teams provide appropriate antenatal counseling.


Morin J.-F.,University of Monastir | Botton E.,Laboratoire Of Biologie Medicale | Jacquemard F.,Center Pluridisciplinaire Of Diagnostic Prenatal | Richard-Gireme A.,Thermo Fisher Scientific
Annales de Biologie Clinique | Year: 2013

The Fetal medicine foundation (FMF) has developed a new algorithm called Prenatal Risk Calculation (PRC) to evaluate Down syndrome screening based on free hCG™, PAPP-A and nuchal translucency. The peculiarity of this algorithm is to use the degree of extremeness (DoE) instead of the multiple of the median (MoM). The biologists measuring maternal seric markers on KryptorTM machines (Thermo Fisher Scientific) use Fast Screen pre I plus software for the prenatal risk calculation. This software integrates the PRC algorithm. Our study evaluates the data of 2.092 patient files of which 19 show a foetal abnormality. These files have been first evaluated with the ViewPoint software based on MoM. The link between DoE and MoM has been analyzed and the different calculated risks compared. The study shows that Fast Screen pre I plus software gives the same risk results as ViewPoint software, but yields significantly fewer false positive results.


PubMed | Imagerie Pediatrique et Foetale and Center Pluridisciplinaire Of Diagnostic Prenatal
Type: | Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology | Year: 2017

We report the first series of five cases of prenatal diagnosis of pericallosal curvilinear lipoma (CL) and underline limitations and pitfalls in identifying a specific prenatal imaging pattern using ultrasound and MRI. On ultrasound, the main referring feature was a short corpus callosum in all cases. This subtle callosal dysgenesis was associated with a band of hyperechogenicity surrounding the corpus callosum, which can mimic the pericallosal sulcus, and increased in size over the third trimester in three out of four cases in which sonographic follow-up was obtained. This band showed typical hypointensity on T2-weighted images in all cases, whereas, on T1-weighted images, no hyperintensity, suggestive of fat, as shown typically in the postnatal period, was found in any of the cases except one. Finally, with regards to outcome and prenatal counselling, we underline that recognition of CL is crucial when facing mild corpus callosum dysgenesis and that one should be aware of subtle diagnostic findings such as a thin band of echogenicity surrounding the corpus callosum, which may increase during gestation, identified as a band of hypointensity on T2-weighted fetal MR images.

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