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1.
AJNR Am J Neuroradiol ; 44(3): 334-340, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36822823

RESUMEN

BACKGROUND AND PURPOSE: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book Pediatric Neuroimaging from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation. MATERIALS AND METHODS: This is a multicenter, international, retrospective study. We assessed the patients' medical records, prenatal ultrasounds, MR images, genetic findings, and postmortem results. We reviewed the medical literature for all studies depicting medullary malformations and evaluated cases in which a dorsal medullary protuberance was described. RESULTS: We collected 13 patients: 3 fetuses and 10 children. The medullary caps had multiple characteristics. Associated brain findings were a rotated position of the medulla, a small and flat pons, cerebellar anomalies, a molar tooth sign, and agenesis of the corpus callosum. Systemic findings included the following: polydactyly, hallux valgus, large ears, and coarse facies. Postmortem analysis in 3 patients revealed that the cap contained either neurons or white matter tracts. We found 8 publications describing a dorsal medullary protuberance in 27 patients. The syndromic diagnosis was Joubert-Boltshauser syndrome in 11 and fibrodysplasia ossificans progressiva in 14 patients. CONCLUSIONS: This is the first study to describe a series of 13 patients with medullary tegmental cap dysplasia. The cap has different shapes: distinct in Joubert-Boltshauser syndrome and fibrodysplasia ossificans progressive. Due to the variations in the clinical, imaging, and postmortem findings, we conclude that there are multiple etiologies and pathophysiology. We suggest that in some patients, the pathophysiology might be abnormal axonal guidance.


Asunto(s)
Enfermedades Renales Quísticas , Malformaciones del Sistema Nervioso , Embarazo , Femenino , Humanos , Niño , Estudios Retrospectivos , Cerebelo/anomalías , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Feto , Imagen por Resonancia Magnética , Estudios Multicéntricos como Asunto
2.
Ultrasound Obstet Gynecol ; 61(6): 740-748, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36484554

RESUMEN

OBJECTIVE: To report on a large cohort of fetuses with mild forms of tubulinopathy and to define prenatal ultrasound and magnetic resonance imaging (MRI) features that can facilitate prenatal diagnosis. METHODS: This was a retrospective multicenter study of fetuses diagnosed between January 2007 and February 2022 with a mild tubulinopathy (without lissencephaly or microlissencephaly). We collected and reviewed brain imaging and genetic data, and defined major criteria as findings observed in ≥ 70% of the patients and minor criteria as those observed in ≥ 50% but < 70% of the patients. RESULTS: Our cohort included 34 fetuses. The mean gestational age at ultrasound screening, when suspicion of a central nervous system anomaly was first raised, was 24.2 (range, 17-33) weeks. Callosal anomalies (n = 19 (56%)) and abnormal ventricles (n = 18 (53%)) were the main reasons for referral. The mean gestational age at neurosonography was 28.3 (range, 23-34) weeks and that at MRI was 30.2 (range, 24-35) weeks. Major ultrasound criteria were midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation. Minor ultrasound criteria were distortion of the cavum septi pellucidi, abnormal corpus callosum, absent or asymmetric olfactory sulci, ventriculomegaly and basal ganglia dysmorphism. Major MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation (generally unilateral) and/or distortion, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation (mainly dysgyria). Minor MRI criteria were absent or asymmetric olfactory sulci, abnormal bulge of the pons, anteroposterior diameter of the pons ≤ 5th centile and brainstem asymmetry. A mutation was found in TUBB3 (44.1% of cases), TUBB (23.5%), TUBB2B (14.7%) or TUBA1A (17.6%). The mutation was inherited from a parent in 18/34 cases. The pregnancy was terminated in 23/34 cases. CONCLUSIONS: Prenatal diagnosis of mild forms of tubulinopathy is possible but challenging. We have defined, in this large series of fetuses, major and minor criteria that can help identify this entity in utero. Most findings can be visualized on ultrasound. This evaluation is also important for prenatal counseling. Once a prenatal diagnosis of mild tubulinopathy is suspected, the family members should be referred for exome sequencing and MRI. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Asunto(s)
Malformaciones del Sistema Nervioso , Ultrasonografía Prenatal , Embarazo , Femenino , Humanos , Lactante , Ultrasonografía Prenatal/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/anomalías , Diagnóstico Prenatal/métodos , Feto/diagnóstico por imagen , Feto/anomalías , Edad Gestacional , Estudios Retrospectivos , Imagen por Resonancia Magnética/métodos
3.
Arch Pediatr ; 28(3): 226-233, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33674188

RESUMEN

INTRODUCTION: Multiple intestinal atresia (MIA) is a rare cause of neonatal intestinal obstruction. To provide an overview of the current prenatal, surgical, and nutritional management of MIA, we report our experience and a literature review of papers published after 1990. METHODS: All cases of isolated MIA (non-hereditary, not associated with apple-peel syndrome or gastroschisis) treated at our institution between 2005 and 2016 were reviewed and compared with cases found in the literature. RESULTS: Seven patients were prenatally suspected of having intestinal obstruction and were postnatally diagnosed with MIA, with a mean 1.7 (1-2) resections-anastomoses (RA) and 6 (1-10) strictureplasties performed, resulting in a mean resected bowel length of 15.1cm (15-25 cm). Median time to full oral feed was 46 days (14-626 days). All patients were alive and none had orality disorder after a mean follow-up of 3.1 years (0.2-8.1 years). Three surgical strategies were found in the literature review: multiple RA (68%, 34/50) including Santulli's technique in four of 34 (12%) and anastomoses over a transanastomotic tube (32%, 16/50), with a 98% survival rate, and short-bowel syndrome for only two patients. CONCLUSION: Bowel-sparing surgery and appropriate medical management are key to ensuring a favorable nutritional and gastrointestinal outcome and a good prognosis. Prenatal assessment and standardization of the surgical course of treatment remain challenging.


Asunto(s)
Atresia Intestinal/terapia , Atención Perinatal/normas , Mejoramiento de la Calidad , Terapia Combinada , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Procedimientos Quirúrgicos del Sistema Digestivo/normas , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Atresia Intestinal/diagnóstico , Masculino , Apoyo Nutricional/métodos , Apoyo Nutricional/normas , Atención Perinatal/métodos , Embarazo , Estudios Retrospectivos , Resultado del Tratamiento , Ultrasonografía Prenatal
4.
Ultrasound Obstet Gynecol ; 57(5): 783-789, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-32515830

RESUMEN

OBJECTIVE: To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury. METHODS: This was a single-center retrospective analysis of all cases of fetal cerebral anomalies suggestive of COL4A1 or COL4A2 gene mutation over the period 2009-2018. Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesions. These anomalies could be of different ages and associated with schizencephaly or porencephaly. Between fetuses with and those without a mutation, we compared gestational age at the time of diagnosis, parity and fetal gender. RESULTS: Among the 956 cases of cerebral anomaly diagnosed in our center during the 10-year study period, 18 fetuses were identified for inclusion. A pathogenic COL4A1 gene mutation was found in five of these cases, among which four were de-novo mutations. A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No COL4A1 or COL4A2 mutation was found in the remaining nine fetuses. The median (interquartile range) gestational age at diagnosis was significantly lower in cases with a mutation (24 (22-26) weeks) than in cases without a mutation (32 (29.5-34.5) weeks) (P = 0.03). CONCLUSIONS: A phenotype suggestive of cerebral injury was found in 18 of the 956 (1.9%) cases in our population, in 28% of which there was an associated COL4A1 or COL4A2 mutation. COL4A1 and COL4A2 gene mutations should be sought systematically in cases of severe and/or multifocal hemorrhagic or ischemic-hemorrhagic cerebral lesions, with or without schizencephaly or porencephaly. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.


Asunto(s)
Hemorragia Cerebral/embriología , Hemorragia Cerebral/genética , Colágeno Tipo IV/genética , Malformaciones del Desarrollo Cortical/embriología , Malformaciones del Desarrollo Cortical/genética , Adulto , Hemorragia Cerebral/diagnóstico , Femenino , Edad Gestacional , Humanos , Malformaciones del Desarrollo Cortical/diagnóstico , Mutación , Fenotipo , Porencefalia/diagnóstico , Porencefalia/embriología , Porencefalia/genética , Embarazo , Resultado del Embarazo/genética , Diagnóstico Prenatal/métodos , Prevalencia , Estudios Retrospectivos , Esquizencefalia/diagnóstico , Esquizencefalia/embriología , Esquizencefalia/genética
5.
BJOG ; 128(2): 376-383, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32112473

RESUMEN

OBJECTIVE: To investigate cerebral anomalies other than Chiari type 2 malformation in fetuses with myelomeningocele (MMC). DESIGN: A retrospective cohort study in a single tertiary centre. SETTING: A review of associated cerebral anomalies in cases with prenatal diagnosis of myelomeningocele. POPULATION: Seventy cases of fetal myelomeningocele. METHODS: Ultrasound and MRI images were blindly reviewed. Postnatal imaging and results of the postmortem results were also reviewed. The association between cerebral anomalies and the following ultrasound findings was measured: level of the defect, ventriculomegaly, microcephaly and fetal talipes. MAIN OUTCOME MEASURES: A microcephaly was observed in 32/70 cases (46%) and a ventriculomegaly was observed in 39/70 cases (56%). Other cerebral anomalies were diagnosed in 47/70 (67%). RESULTS: Other cerebral anomalies were represented by 42/70 cases with abnormal CC (60%), 8/70 cases with perinodular heterotopia (PNH; 11%), 2/70 cases with abnormal gyration (3%). MRI performed only in fetal surgery cases confirmed the ulltrasound findings in all cases and provided additional findings in two cases (PNH). Risk ratios of fetal cerebral anomalies associated with MMC did not reach significance for microcephaly, ventriculomegaly, talipes or the level of the defect There was an overall good correlation between pre- and postnatal findings with a Kappa value of 0.79 [95% CI 0.57-1] and 82% agreement. CONCLUSION: Fetal brain anomalies other than Chiari type 2 malformation are frequently observed in fetuses with myelomeningocele, predominantly represented by CC anomalies. Whether these associated cerebral anomalies have an impact on selecting cases eligible for fetal surgery needs further evaluation. TWEETABLE ABSTRACT: Fetal cerebral anomalies other than Chiari type 2 malformation, microcephaly, and ventriculomegaly may be associated with MMC in up to 67% of the cases.


Asunto(s)
Encéfalo/anomalías , Enfermedades Fetales/diagnóstico por imagen , Meningomielocele/complicaciones , Meningomielocele/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Encéfalo/diagnóstico por imagen , Encéfalo/embriología , Femenino , Enfermedades Fetales/etiología , Humanos , Imagen por Resonancia Magnética , Meningomielocele/embriología , Embarazo , Resultado del Embarazo , Estudios Retrospectivos
6.
Ultrasound Obstet Gynecol ; 57(3): 493-497, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-32149430

RESUMEN

To illustrate the prenatal cerebral imaging features associated with tubulinopathy, we report on five affected fetuses from unrelated families, with a de-novo heterozygous variant in a tubulin gene (TUBA1A, TUBB2B or TUBB3). We identified two distinct prenatal imaging patterns related to tubulinopathy: a severe form, characterized by enlarged germinal matrices, microlissencephaly and a kinked brainstem; and a mild form which has not been reported previously in the prenatal literature. The latter form is associated with non-specific features, including an asymmetric brainstem, corpus callosal dysgenesis, a lack of Sylvian fissure operculization and distortion of the anterior part of the interhemispheric fissure with subsequent impacted medial borders of the frontal lobes, the combination of which, in the absence of additional extracerebral anomalies, is highly suggestive of tubulinopathy. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Asunto(s)
Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/embriología , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Malformaciones del Desarrollo Cortical/embriología , Ultrasonografía Prenatal , Tronco Encefálico/anomalías , Tronco Encefálico/diagnóstico por imagen , Tronco Encefálico/embriología , Corteza Cerebral/anomalías , Femenino , Feto/anomalías , Feto/diagnóstico por imagen , Feto/embriología , Variación Genética , Humanos , Malformaciones del Desarrollo Cortical/genética , Ilustración Médica , Microcefalia/diagnóstico por imagen , Microcefalia/embriología , Embarazo , Tubulina (Proteína)/genética
7.
Gynecol Obstet Fertil Senol ; 47(9): 643-649, 2019 09.
Artículo en Francés | MEDLINE | ID: mdl-31398445

RESUMEN

INTRODUCTION: Intra-abdominal calcifications (iAC) detected during fetal ultrasound examinations are characterized by their isolated or associated nature, as well as their location. Our objective was to describe all cases of isolated iAC along with their etiological investigations and neonatal outcome, during a 10-year practice in a referral center. METHODS: We conducted a retrospective descriptive monocentric study on neonates diagnosed with isolated iAC after antenatal expert ultrasound scan and referred to the Multidisciplinary Center for Prenatal Diagnosis at Trousseau Hospital and born between January 1st, 2008 and June 30th, 2018. The exclusion criteria were: retroperitoneal calcifications, iAC associated with other digestive abnormalities or with congenital malformations. RESULTS: The 32 isolated iAC cases accounted for 46% of all iAC. Nine cases were excluded for missing neonatal data. Among the 23 remaining isolated iAC cases, we observed 15 intra-hepatic calcifications, 5 peri-hepatic and two peritoneal calcifications. One fetus had both intra- and peri-hepatic calcifications. The majority of iAC remained stable throughout pregnancy. No cases of aneuploidy, fetal infection, or cystic fibrosis were detected. The neonatal outcome was favorable in all cases. CONCLUSIONS: In case of isolated and stable iAC after expert ultrasound scan, after having ruled out infectious diseases of the fetus and looked for the most frequent mutations of cystic fibrosis in the parents, the prognosis is favorable. Fetal karyotyping is recommended when additional structural anomalies are present.


Asunto(s)
Calcinosis/diagnóstico por imagen , Resultado del Embarazo , Ultrasonografía Prenatal , Aneuploidia , Calcinosis/embriología , Fibrosis Quística/diagnóstico , Fibrosis Quística/genética , Femenino , Enfermedades Fetales/diagnóstico , Humanos , Recién Nacido , Infecciones/diagnóstico , Infecciones/embriología , Hepatopatías/diagnóstico por imagen , Hepatopatías/embriología , Enfermedades Peritoneales/diagnóstico por imagen , Enfermedades Peritoneales/embriología , Embarazo , Estudios Retrospectivos
10.
11.
Neurochirurgie ; 62(6): 300-305, 2016 Dec.
Artículo en Francés | MEDLINE | ID: mdl-27856007

RESUMEN

Suprasellar arachnoid cysts (SAC) in children are considered rare, but the incidence is increasing due to the improvement of prenatal diagnosis. We present 15 cases of SAC diagnosed during the antenatal period between 2005 and 2015. The records were reviewed retrospectively by specifying the radiological characteristics, treatment modalities, outcomes, and long-term monitoring. Mean follow-up was 71 months. The forms (SAC-1) accounted for 2 cases (13%) with hydrocephalus. We observed 8 (53%) lower forms (SAC-2) with interpeduncular cistern expansion without hydrocephalus. The 5 (33.5%) remaining patients showed asymmetrical forms (SAC-3). Six patients (40%) were treated by ventriculo-cysto-cisternostomy, 1 by fetoscopy, 1 (6.5%) by ventriculo-peritoneal shunt, 2 (13.5%) by pterional craniotomy, and 6 (40%) were simply followed. The surgical outcomes were initially favorable in 9 cases (100%), 1 patient (13%) had to be re-treated later. Non-operated patients were all type 2 and showed no radiological changes. In the long-term, 1 patient (6.5%) had endocrine disruption, 1 had delayed development, 2 (13.5%) had minor neuropsychological impairments, and 1 had epilepsy. Combined monitoring with prenatal MRI and ultrasound can be used to distinguish three subtypes of SAC. SAC-1 and SAC-3 have an excellent prognosis after treatment in the perinatal period. SAC-2 can benefit from simple monitoring and remain asymptomatic in their majority. This classification allows a better prognosis estimation and better treatment decision.


Asunto(s)
Quistes Aracnoideos/cirugía , Quistes del Sistema Nervioso Central/diagnóstico , Quistes del Sistema Nervioso Central/cirugía , Derivación Ventriculoperitoneal , Adolescente , Quistes del Sistema Nervioso Central/complicaciones , Niño , Preescolar , Craneotomía/métodos , Femenino , Estudios de Seguimiento , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/etiología , Hidrocefalia/cirugía , Imagen por Resonancia Magnética/métodos , Masculino , Distrofias Neuroaxonales , Osteopetrosis , Embarazo , Pronóstico , Derivación Ventriculoperitoneal/métodos
12.
Clin Genet ; 90(6): 545-549, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27000652

RESUMEN

Pontocerebellar hypoplasias (PCH) are characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. We report five patients referred for PCH, showing atypical clinical and magnetic resonance imaging (MRI) features suggestive of defects in the Reelin pathway. We screened for mutations in RELN or VLDLR and compared the phenotype of these patients with that of previously reported patients. All patients had profound cerebellar hypoplasia on MRI with peculiar cerebellar morphology, associated with flattened pons and neocortical abnormalities. Patient 1 had profound motor and intellectual disability with moderate lissencephaly suggestive of RELN mutations and was shown to harbor a splicing homozygous RELN mutation. The four other patients had a milder phenotype consistent with CARMQ1 (cerebellar ataxia and mental retardation with or without quadrupedal locomotion). These patients showed mild simplification or thickening of cortical gyration and had VLDLR mutations. Reelin signaling regulates neuronal migration in the developing mammalian brain. VLDLR is a key component of the Reelin pathway. Our patients had a very small and dysplatic cerebellar vermis that should suggest the involvement of these genes. Moreover, differences in clinical severity, involvement of the cerebellar hemispheres, together with the severity of the neocortical defect, enables RELN-mutated patients to be distinguished from VLDLR-mutated patients.


Asunto(s)
Moléculas de Adhesión Celular Neuronal/genética , Cerebelo/anomalías , Proteínas de la Matriz Extracelular/genética , Discapacidad Intelectual/genética , Proteínas del Tejido Nervioso/genética , Malformaciones del Sistema Nervioso/genética , Receptores de LDL/genética , Serina Endopeptidasas/genética , Adolescente , Adulto , Cerebelo/diagnóstico por imagen , Cerebelo/fisiopatología , Niño , Preescolar , Discapacidades del Desarrollo/diagnóstico por imagen , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/fisiopatología , Femenino , Homocigoto , Humanos , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/fisiopatología , Imagen por Resonancia Magnética , Masculino , Mutación , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Malformaciones del Sistema Nervioso/fisiopatología , Fenotipo , Proteína Reelina
13.
Ultrasound Obstet Gynecol ; 48(1): 28-37, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26394557

RESUMEN

OBJECTIVES: Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate clinical personnel, and the reported rate is often affected by the adoption of different nomenclature, diagnostic criteria, outcome measures, duration of follow-up and neurodevelopmental tools. The aim of this systematic review was to explore the neurodevelopmental outcome of fetuses with a prenatal diagnosis of isolated posterior fossa anomalies. METHODS: MEDLINE and EMBASE were searched electronically, utilizing combinations of the relevant medical subject heading terms for 'posterior fossa' and 'outcome'. Studies assessing the neurodevelopmental outcome in children with a prenatal diagnosis of isolated posterior fossa malformations were considered eligible. The posterior fossa anomalies analyzed included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). Two authors reviewed all abstracts independently. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. Meta-analyses of proportions were used to combine data, and between-study heterogeneity was explored using the I(2) statistic. RESULTS: A total of 1640 articles were identified; 95 were assessed for eligibility and a total of 16 studies were included in the systematic review. The overall rate of abnormal neurodevelopmental outcome in children with a prenatal diagnosis of DWM was 58.2% (95% CI, 21.8-90.0%) and varied from 0-100%. In those with a prenatal diagnosis of MCM, the rate of abnormal neurodevelopmental outcome was 13.8% (95% CI, 7.3-21.9%), with a range of 0-50%. There was no significant association between BPC and the occurrence of abnormal neurodevelopmental delay, with a rate of 4.7% (95% CI, 0.7-12.1%) and range of 0-5%. Although affected by the very small number of studies, there was a non-significant occurrence of abnormal neurodevelopmental delay in children with a prenatal diagnosis of VH, with a rate of 30.7% (95% CI, 0.6-79.1%) and range of 0-100%. CONCLUSIONS: Fetuses diagnosed with isolated DWM are at high risk of abnormal neurodevelopmental outcome, while isolated MCM or BPC have a generally favorable outcome. The risk of abnormal developmental delay in cases with isolated VH needs to be further assessed. In view of the wide heterogeneity in study design, time of follow-up, neurodevelopmental tests used and the very small number of included cases, further future large prospective studies with standardized and objective protocols for diagnosis and follow-up are needed in order to ascertain the rate of abnormal neurodevelopmental outcome in children with isolated posterior fossa anomalies. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.


Asunto(s)
Fosa Craneal Posterior/anomalías , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Embarazo , Resultado del Embarazo , Ultrasonografía Prenatal
14.
J Gynecol Obstet Biol Reprod (Paris) ; 45(7): 738-44, 2016 Sep.
Artículo en Francés | MEDLINE | ID: mdl-26566108

RESUMEN

OBJECTIVES: To present the preliminary results of the PRIUM study, a French pilot study of prenatal repair for myelomeningoceles (MMC). MATERIAL AND METHODS: The fetal surgery for MMC is offered in cases of patients that did not opt for termination of pregnancy. RESULTS: Thirty-six patients were referred in an 18-month period. Eight patients were not eligible for prenatal repair. Another type of dysraphism was made in 6 cases (one spina-lipoma, 5 cases of limited dorsal myeloschisis). Twenty-two patients were eligible to fetal surgery. A prenatal repair was performed in three cases (14%). Four patients opted for a conventional postnatal treatment. Fifteen patients opted for termination of the pregnancy. CONCLUSION: The establishment of a prenatal repair of MMC protocol in France was justified. The experience of the first 18months of this study however suggests that only a limited number of couples will choose this procedure after specialized counseling in a reference center.


Asunto(s)
Enfermedades Fetales/cirugía , Terapias Fetales/métodos , Meningomielocele/cirugía , Adulto , Femenino , Terapias Fetales/normas , Francia , Humanos , Proyectos Piloto , Embarazo , Adulto Joven
15.
Ultrasound Obstet Gynecol ; 47(6): 690-7, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25970099

RESUMEN

OBJECTIVE: To explore the outcome in fetuses with prenatal diagnosis of posterior fossa anomalies apparently isolated on ultrasound imaging. METHODS: MEDLINE and EMBASE were searched electronically utilizing combinations of relevant medical subject headings for 'posterior fossa' and 'outcome'. The posterior fossa anomalies analyzed were Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). The outcomes observed were rate of chromosomal abnormalities, additional anomalies detected at prenatal magnetic resonance imaging (MRI), additional anomalies detected at postnatal imaging and concordance between prenatal and postnatal diagnoses. Only isolated cases of posterior fossa anomalies - defined as having no cerebral or extracerebral additional anomalies detected on ultrasound examination - were included in the analysis. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. We used meta-analyses of proportions to combine data and fixed- or random-effects models according to the heterogeneity of the results. RESULTS: Twenty-two studies including 531 fetuses with posterior fossa anomalies were included in this systematic review. The prevalence of chromosomal abnormalities in fetuses with isolated DWM was 16.3% (95% CI, 8.7-25.7%). The prevalence of additional central nervous system (CNS) abnormalities that were missed at ultrasound examination and detected only at prenatal MRI was 13.7% (95% CI, 0.2-42.6%), and the prevalence of additional CNS anomalies that were missed at prenatal imaging and detected only after birth was 18.2% (95% CI, 6.2-34.6%). Prenatal diagnosis was not confirmed after birth in 28.2% (95% CI, 8.5-53.9%) of cases. MCM was not significantly associated with additional anomalies detected at prenatal MRI or detected after birth. Prenatal diagnosis was not confirmed postnatally in 7.1% (95% CI, 2.3-14.5%) of cases. The rate of chromosomal anomalies in fetuses with isolated BPC was 5.2% (95% CI, 0.9-12.7%) and there was no associated CNS anomaly detected at prenatal MRI or only after birth. Prenatal diagnosis of BPC was not confirmed after birth in 9.8% (95% CI, 2.9-20.1%) of cases. The rate of chromosomal anomalies in fetuses with isolated VH was 6.5% (95% CI, 0.8-17.1%) and there were no additional anomalies detected at prenatal MRI (0% (95% CI, 0.0-45.9%)). The proportions of cerebral anomalies detected only after birth was 14.2% (95% CI, 2.9-31.9%). Prenatal diagnosis was not confirmed after birth in 32.4% (95% CI, 18.3-48.4%) of cases. CONCLUSIONS: DWM apparently isolated on ultrasound imaging is a condition with a high risk for chromosomal and associated structural anomalies. Isolated MCM and BPC have a low risk for aneuploidy or associated structural anomalies. The small number of cases with isolated VH prevents robust conclusions regarding their management from being drawn. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.


Asunto(s)
Fosa Craneal Posterior/anomalías , Fosa Craneal Posterior/diagnóstico por imagen , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Aberraciones Cromosómicas , Síndrome de Dandy-Walker/diagnóstico por imagen , Síndrome de Dandy-Walker/genética , Femenino , Edad Gestacional , Humanos , Imagen por Resonancia Magnética/métodos , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/patología , Embarazo , Diagnóstico Prenatal/métodos
17.
Ultrasound Obstet Gynecol ; 46(6): 678-87, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25684100

RESUMEN

OBJECTIVES: To identify at prenatal ultrasound (US) the features of apparently isolated subependymal pseudocysts (SEPC) that may indicate underlying pathology and should lead to further investigations. METHODS: This was a retrospective study of cases with SEPC detected on prenatal US and/or magnetic resonance imaging (MRI). Those with apparently isolated SEPC at US were classified into two groups as follows: Group 1 (n = 29): normal prenatal US and MRI (except for SEPC) and normal outcome; Group 2 (n = 12): normal prenatal cerebral US (except for SEPC) and abnormal prenatal cerebral MRI with or without abnormal outcome. A third group (n = 9) included cases with abnormal prenatal US and MRI. The latter cases with obvious cerebral abnormalities at US were excluded from the statistical analysis as they do not represent a diagnostic dilemma for clinicians. Groups 1 and 2 were analyzed, comparing them with respect to their SEPC characteristics (size, number, location in relation to the caudothalamic notch and the ventricular horns and morphology) and extracerebral abnormalities. RESULTS: The mean ± SD SEPC great axis was longer in Group 2 (11.67 ± 5.82 mm) than it was in Group 1 (8.00 ± 5.64 mm) (P = 0.021), suggesting an optimal cut-off for size of SEPC of ≥ 9 mm (sensitivity = 75%, specificity = 62%) to maximize sensitivity for predicting pathological outcome. SEPC adjacent to the temporal horns and SEPC located posterior to the caudothalamic notch were observed more frequently in Group 2, indicating their association with poor outcome (P = 0.003 and P = 0.003, respectively). Atypical morphology and extracerebral abnormalities were observed more frequently in Group 2 (P = 0.013 and P = 0.044, respectively). There was no statistically significant difference between groups for either number or location of cysts along the inferior wall or adjacent to the lateral wall of the frontal horns (P = 0.591 and P = 0.156, respectively). CONCLUSION: When apparently isolated SEPC are observed at prenatal US, further investigations should be performed under the following circumstances: (1) SEPC great axis ≥ 9 mm; (2) SEPC adjacent to the occipital and temporal horns; (3) SEPC located posterior to the caudothalamic notch; (4) SEPC with atypical morphology.


Asunto(s)
Encefalopatías/embriología , Quistes/embriología , Enfermedades Fetales/diagnóstico , Imagen por Resonancia Magnética/estadística & datos numéricos , Ultrasonografía Prenatal/estadística & datos numéricos , Adulto , Encefalopatías/diagnóstico por imagen , Quistes/diagnóstico por imagen , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Recién Nacido , Valor Predictivo de las Pruebas , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Sensibilidad y Especificidad
18.
Ultrasound Obstet Gynecol ; 46(5): 595-9, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25586942

RESUMEN

OBJECTIVE: To describe and assess the presence of a new indirect sign of partial agenesis of the corpus callosum (pACC): an abnormally shaped cavum septi pellucidi (CSP). METHODS: We analyzed retrospectively images from all 71 cases of pACC seen at two referral centers between September 2006 and April 2014. Abnormally shaped CSP was diagnosed when its lateral dimension was greater than its anteroposterior dimension in the axial transthalamic plane, and the incidence of this sign was assessed. We also examined the following variables: gestational age at referral, indication for referral, which (if any) of the four corpus callosal segments were abnormal, presence of other, previously established, indirect signs of callosal agenesis (ACC) and presence of additional cerebral or extracerebral anomalies. RESULTS: In 56 of the 71 (79%) cases, the CSP was measurable; it was abnormally shaped in 19 (34%) of these cases, 15 (79%) of which had no other indirect signs of pACC. Of 23 cases with isolated pACC and no other indirect signs, 12 (52%) had an abnormally shaped CSP. CONCLUSIONS: In a significant proportion of cases of pACC detected prenatally, the shape of the CSP is abnormal. This should be considered an additional indirect sign of pACC, and is frequently the only clue to the diagnosis. When observing this sign in a screening context, pACC should be considered, and an attempt to visualize the corpus callosum directly in the midsagittal plane is suggested.


Asunto(s)
Agenesia del Cuerpo Calloso/diagnóstico , Cuerpo Calloso/patología , Imagen por Resonancia Magnética , Diagnóstico Prenatal , Adulto , Agenesia del Cuerpo Calloso/embriología , Agenesia del Cuerpo Calloso/epidemiología , Cuerpo Calloso/embriología , Femenino , Francia/epidemiología , Edad Gestacional , Humanos , Israel/epidemiología , Embarazo , Estudios Retrospectivos , Tabique Pelúcido/anomalías , Tabique Pelúcido/embriología , Tabique Pelúcido/patología
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