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1.
Prenat Diagn ; 44(1): 28-34, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38054546

RESUMO

OBJECTIVE: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with a more severe prognosis. METHOD: We carried out a French multi-centric retrospective study via 15 Multidisciplinary Center for Prenatal Diagnosis from January 2011 to January 2021. We included pregnancies for which fetal colonic hyperechogenicity had been demonstrated. We collected the investigations performed during pregnancy and at birth as well as the main clinical features of the mother and the child. We then established the prevalence of pathologies such as lysinuria-cystinuria (LC), hypotonia-cystinuria syndrome (HC), or lysinuric protein intolerance (LPI). RESULTS: Among the 33 cases of colonic hyperechogenicity collected, and after exclusion of those lost to follow-up, we identified 63% of children with lysinuria-cystinuria, 8% with lysinuric rotein intolerance, and 4% with hypotonia-cystinuria syndrome. CONCLUSION: Management of prenatal hyperechoic colon should include a specialized consultation with a clinical geneticist to discuss further investigations, which could include invasive amniotic fluid sampling for molecular diagnosis. A better understanding of diagnoses and prognosis should improve medical counseling and guide parental decision making.


Assuntos
Deleção Cromossômica , Anormalidades Craniofaciais , Cistinúria , Deficiência Intelectual , Doenças Mitocondriais , Hipotonia Muscular , Recém-Nascido , Criança , Gravidez , Humanos , Feminino , Cistinúria/diagnóstico , Cistinúria/metabolismo , Estudos Retrospectivos , Diagnóstico Pré-Natal , Líquido Amniótico/metabolismo , Ultrassonografia Pré-Natal , Cromossomos Humanos Par 21
2.
Heliyon ; 8(12): e12210, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36568675

RESUMO

Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age. Case presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis. A c.1351G > A (p.Asp451Asn) hemizygous mutation in OCRL gene was identified, inherited from the mother, which led to the diagnosis of Lowe syndrome in the fetus. Conclusions: This is the first case of Lowe syndrome diagnosed prenatally on an isolated cataract, which allows the discussion of a more extensive etiological research when a male fetus is diagnosed with isolated bilateral cataract, by including notably a systematic analysis of the OCRL gene.

3.
Prenat Diagn ; 42(5): 574-582, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35278234

RESUMO

OBJECTIVES: The antenatal phenotypic spectrum of Noonan Syndrome (NS) requires better characterization. METHODS: This multicenter retrospective observational included 16 fetuses with molecularly confirmed NS admitted for fetopathological examination between 2009 and 2016. RESULTS: Among 12 pathogenic variants (PV) in PTPN11 (80%), 5 (42%) fell between position c.179 and c.182. Ultrasound showed increased nuchal translucency (n = 13/16, 93%), increased nuchal fold after 15 weeks of gestation (n = 12/16, 75%), pleural effusions (n = 11/16, 69%), polyhydramnios (n = 9/16, 56%), hydrops (n = 7/16, 44%), cardiovascular (n = 6/16, 38%) and cerebral (n = 4/16, 25%) anomalies. Fetopathological examination found dysmorphic features in all cases, cardiovascular anomalies (n = 12/15, 80%), pulmonary hypoplasia (n = 10/15, 67%), effusions (n = 7/15, 47%) and neuropathological anomalies (n = 5/15, 33%). Hydrops was significantly (p = 0.02) more frequent in the four fetuses with RIT1, NRAS and RAF1 PV versus the 12 fetuses with PTPN11 PV. CONCLUSIONS: Increased nuchal translucency and nuchal fold is common in NS. Noonan Syndrome antenatal phenotype showed high in utero fetal death, hydrops, prenatal pleural effusion and pulmonary hypoplasia, although the inclusion of only deceased fetuses will have selected more severe phenotypes. Non-specific cardiovascular and neurological abnormalities should be added to NS antenatal phenotype. Next generation sequencing will help detect more genotypes, clarifying the prenatal phenotype and identifying genotype-phenotype correlations.


Assuntos
Síndrome de Noonan , Autopsia , Edema , Feminino , Humanos , Síndrome de Noonan/diagnóstico por imagem , Síndrome de Noonan/genética , Medição da Translucência Nucal , Fenótipo , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal
4.
Int J Clin Pediatr Dent ; 13(3): 295-298, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32904152

RESUMO

BACKGROUND: The single median incisor is a rare dental abnormality that could be isolated or could be part of many different syndromes or syndromic association with poor prognosis. CASE DESCRIPTION: We report the first prenatal ultrasound description of a 31-year-old patient, gravida 1, para 0, whose male fetus was diagnosed at 25 weeks' gestation with a single median incisor suggestive of nasal pyriform aperture stenosis in Montpellier University Hospital (France). A fetal magnetic resonance imaging (MRI) performed at 30 weeks' gestation retrieved no intracranial midline cerebral anomalies and confirm nasal pyriform aperture stenosis suspicion. Amniocentesis, performed at 31 weeks, found a normal fetal karyotype (46XY) and a normal comparative genomic hybridization (CGH) array. After term vaginal delivery, clinical and radiological examination confirmed the diagnosis of an isolated single median maxillary central incisor linked to nasal pyriform aperture stenosis. CONCLUSION: Prenatal diagnosis of a single median incisor due to nasal pyriform aperture stenosis is feasible and enables close postnatal follow-up. HOW TO CITE THIS ARTICLE: Fuchs F, Chadelle M, Captier G, et al. Solitary Median Maxillary Central Incisor due to Nasal Pyriform Aperture Stenosis in Fetus: The First Prenatal Ultrasound Case Report. Int J Clin Pediatr Dent 2020;13(3):295-298.

5.
Prenat Diagn ; 40(11): 1447-1458, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32673416

RESUMO

OBJECTIVES: The aim of this study was to define the prenatal ultrasound semiology of cleft palate without cleft lip using 3D visualization of the fetal palate. METHODS: A prospective longitudinal study was performed in our University Hospital Center from 2011 to 2018. The fetal secondary palate was studied in 3D, starting with 2D axial transverse ultrasound view. We defined a cleft palate as a disruption of the horizontal plate of the palatine bone of the secondary palate. Prenatal findings were correlated to anatomic postnatal examinations performed by a paediatric plastic surgeon. RESULTS: Forty-three cases of cleft palate without cleft lip were prenatally diagnosed, of whom 34 were associated with malformations. We defined four types of disruptive appearances: isolated nonvisualization of the posterior nasal spine; partial-disruption or cleft velum; complete disappearance or V-shaped cleft palate; and complete disappearance or U-shaped cleft palate. The adjusted kappa coefficient, between prenatal and postnatal evaluation, was 0.88 (95% CI: 0.79-0.97), corresponding to an excellent agreement. CONCLUSIONS: Using a strictly axial transverse ultrasound view, visualization of the secondary fetal palate enables to diagnose a cleft palate without cleft lip. This method offers a prenatal anatomic classification of cleft palate with a high level of concordance to postnatal findings.


Assuntos
Fissura Palatina/diagnóstico por imagem , Imageamento Tridimensional/métodos , Ultrassonografia Pré-Natal/métodos , Fissura Palatina/classificação , Feminino , Humanos , Estudos Longitudinais , Gravidez , Estudos Prospectivos
6.
BJU Int ; 124(5): 876-882, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-30776193

RESUMO

OBJECTIVES: To report the clinical spectrum of genital defects diagnosed before birth, identify predictive factors for severe phenotypes at birth, and determine the rate of associated malformations. PATIENTS AND METHODS: A retrospective study (2008-2017) of 4580 fetuses, identified prenatally with abnormalities evaluated by our Reference Center for Fetal Medicine, included cases with fetal sonographic findings of abnormal genitalia or uncertainty of fetal sex determination. Familial, prenatal and postnatal data were collected via a standardised questionnaire. RESULTS: In all, 61 fetuses were included. The positive predictive value (PPV) of the prenatal diagnosis of genital defects was 90.1%. Most cases were 46,XY-undervirilized boys, 42 cases (68.8%), which included 29 with mid-penile or posterior hypospadias, nine with anterior hypospadias, and epispadias, micropenis, scrotal transposition, and buried penis (one each). In all, 46,XX-virilized girls were identified in seven cases (11.5%), which included four with congenital adrenal hyperplasia, two with isolated clitoromegaly, and one with ovotestis. Other defects included prune belly syndrome and persistent cloaca (six cases). Early detection during the second trimester (58.1% vs 18.8%, P = 0.03), intra-uterine growth restriction (IUGR) (45.2% vs 9.1%, P = 0.06), and curvature of the penis (38.7% vs 0%, P = 0.02), were more frequently related to severe defects in male newborns. Associated malformations (14 cases, 22.9%) and genetic defects (six) were frequent in undervirilized boys. CONCLUSION: Prenatal imaging of genital defects leads to a wide range of phenotypes at birth. Its PPV is high and extra-urinary malformations are frequent. Early diagnosis during the second trimester, associated IUGR, and curvature of the genital tubercle, should raise suspicion of a severe phenotype and may justify delivery near a multidisciplinary disorders/differences of sex development team.


Assuntos
Doenças dos Genitais Masculinos , Ultrassonografia Pré-Natal , Feminino , Feto/diagnóstico por imagem , Doenças dos Genitais Masculinos/congênito , Doenças dos Genitais Masculinos/diagnóstico por imagem , Doenças dos Genitais Masculinos/patologia , Humanos , Masculino , Pênis/anormalidades , Pênis/diagnóstico por imagem , Pênis/patologia , Gravidez , Estudos Retrospectivos
7.
Prenat Diagn ; 39(1): 16-25, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30536936

RESUMO

OBJECTIVE: To assess specific, direct, and indirect prenatal ultrasound features in cases of fetal midgut volvulus. METHODS: Retrospective case series of neonatal volvulus, based on postnatal and prenatal imaging findings that occurred from 2006-2017. Prenatal and postnatal signs including the specific "whirlpool sign" were computed. Postnatal volvulus was confirmed by pathology examination after surgery or neonatal autopsy. RESULTS: Thirteen cases of midgut volvulus were identified. Though not a specific sign, a decrease in active fetal movements was reported in eight patients (61.5%). The prenatal whirlpool sign was directly seen in 10 cases, while an indirect but suggestive sign, a fluid-filled level within the dilated loops, was present in five cases. No intestinal malrotation was observed. Pregnancy outcomes were two terminations of pregnancy, both associated with cystic fibrosis, one early neonatal death, three prenatal spontaneous regressions, and seven favorable outcomes after neonatal surgery with resection of midgut atresia. CONCLUSIONS: Identification of the whirlpool sign or of a fluid-filled level within the dilated loops improves the accuracy of ultrasound findings for suspected volvulus. In the absence of total volvulus (in cases of intestinal malrotation) or association with cystic fibrosis, the prognosis appears good.


Assuntos
Anormalidades do Sistema Digestório/diagnóstico por imagem , Anormalidades do Sistema Digestório/embriologia , Volvo Intestinal/diagnóstico por imagem , Volvo Intestinal/embriologia , Ultrassonografia Pré-Natal , Anormalidades do Sistema Digestório/cirurgia , Feminino , Movimento Fetal , Idade Gestacional , Humanos , Recém-Nascido , Volvo Intestinal/cirurgia , Morte Perinatal , Gravidez , Resultado da Gravidez , Nascimento Prematuro , Diagnóstico Pré-Natal , Prognóstico , Estudos Retrospectivos
8.
Acta Obstet Gynecol Scand ; 97(11): 1300-1308, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29964326

RESUMO

INTRODUCTION: When an orofacial cleft lip is discovered, precise characterization of this malformation is necessary, especially the extension of this cleft to the secondary palate. We aimed to develop and evaluate the feasibility/reproducibility of a score-based quality control for the visualization of the fetal hard palate during the second-trimester scan. MATERIAL AND METHODS: All ultrasound images of fetal hard palate assessed routinely during second-trimester scan were retrospectively retrieved for a 6-month period. One hundred of these images were randomly selected and analyzed by two blinded reviewers, according to a scoring system (0-6 points). Criteria retained in the score were complete palate bone horizontal plate, presence of two pterygoid processes, visible alveolar ridge, and horizontal axis of insonation. A score ≥4 defined images of good quality. Inter- and intra-reviewer reproducibility was assessed. RESULTS: Inter-reviewer reproducibility was excellent with significant correlation (Pearson coefficient 0.953; P < .0001), global adjusted κ coefficient (0.86, 95% CI 0.79-0.94) and individual criteria adjusted κ coefficient always > 0.8. Rates of images of good quality (score ≥ 4) were 75%-77%, also with excellent agreement (κ coefficient 0.89, 95% CI 0.79-0.99). Intra-reviewer reproducibility retrieved the same results (excellent agreement) except for the axis of insonation (satisfactory agreement). CONCLUSIONS: This simple image scoring system for the fetal palate is easy, has excellent inter- and intra-reviewer reproducibility and could also help sonographers to correctly identify the palate structure.


Assuntos
Fissura Palatina/diagnóstico por imagem , Técnicas de Apoio para a Decisão , Palato Duro/diagnóstico por imagem , Segundo Trimestre da Gravidez , Controle de Qualidade , Ultrassonografia Pré-Natal/normas , Adulto , Fenda Labial/diagnóstico por imagem , Fenda Labial/embriologia , Fissura Palatina/embriologia , Estudos de Viabilidade , Feminino , Humanos , Variações Dependentes do Observador , Palato Duro/embriologia , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Método Simples-Cego
9.
Prenat Diagn ; 38(6): 390-394, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29528514

RESUMO

OBJECTIVES: The aim of this study was to evaluate the prevalence, the prenatal, and postnatal evolution of isolated fetal splenic cysts. METHODS: All cases of suspected fetal splenic cyst or abdominal unidentified cyst discovered during routine ultrasound scan, from 2007 to 2017, and referred to a French tertiary care center, were retrospectively collected. For each case, several prenatal parameters and postnatal evolution were reported. RESULTS: Among 5450 cases of fetal anomalies, 14 patients (0.3%) had a prenatal diagnosis of fetal splenic cysts. Median gestational age at diagnosis was 30.1 weeks. A unique cyst was present in 78.6%, whereas 2 cysts were observed in 14.3% and 3 cysts in 7.1%. During the pregnancy, cysts remained the same (78.6%) or disappeared (21.4%). Ultrasound scans at 6 months of age found total disappearance of the cysts (36.4%), spontaneous reduction from 2 to 1 cyst (18.2%) or persistence of the cysts (45.4%). CONCLUSION: Fetal splenic cysts are rare images, always isolated, usually unique and mainly found during third trimester of pregnancy. Their evolution is to disappear spontaneously during pregnancy or at 6 months of age leaving only half of them to remain beyond that age but without any symptoms.


Assuntos
Cistos/epidemiologia , Doenças Fetais/epidemiologia , Esplenopatias/epidemiologia , Adulto , Cistos/diagnóstico , Feminino , Doenças Fetais/diagnóstico , França/epidemiologia , Humanos , Gravidez , Prevalência , Estudos Retrospectivos , Esplenopatias/diagnóstico , Ultrassonografia Pré-Natal , Adulto Jovem
10.
Genet Med ; 20(2): 269-274, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28771243

RESUMO

PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be associated with the syndrome.MethodsMolecular diagnosis involved whole-exome and gene-panel sequencing. RESULTS: All sequenced patients showed a unique homozygous mutation of c.667G>A, p.Gly223Ser (NM_012200) in the beta-1,3-glucuronyltransferase 3 (B3GAT3) gene known to be involved in linkeropathy syndrome. Linkeropathies correspond to a recently identified group of heterogeneous genetic syndromes along a spectrum of skeletal and connective tissue disorders. These patients featured mainly craniosynostosis, midface hypoplasia, bilateral radioulnar synostosis, multiple neonatal fractures, dislocated joints, joint contracture, long fingers, foot deformity, and cardiovascular abnormalities. All died before 1 year of age.ConclusionWe identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome.


Assuntos
Osso e Ossos/anormalidades , Osso e Ossos/metabolismo , Craniossinostoses/diagnóstico , Craniossinostoses/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Glucuronosiltransferase/genética , Mutação , Osso e Ossos/patologia , Diagnóstico Diferencial , Humanos , Fenótipo , Análise de Sequência de DNA , Crânio/anormalidades , Crânio/diagnóstico por imagem , Síndrome , Ultrassonografia Pré-Natal , Sequenciamento Completo do Genoma
11.
Prenat Diagn ; 37(13): 1353-1359, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29171042

RESUMO

OBJECTIVES: The objectives of this study were to describe the methodology and to assess the feasibility of a simple 2D ultrasound technique to visualize the fetal hard palate (FHP) using a strict axial transverse view (ATV). METHODS: Prospective cohort of 100 singleton pregnancies, screened routinely during second trimester scans. Three operators imaged the FHP through a strict 2D ATV according to a simple methodology. An expert sonographer reviewed all images, and palate normality was confirmed at birth. Univariate and multivariate analysis of factors modifying the ability to assess the palate were performed. RESULTS: Feasibility of imaging the FHP was obtained in 95% of cases with no difference between the operators (P = .7). The palate was visualized directly without fetal mobilization in 46%. An earlier gestational age at scanning, a prolonged duration of the scan, fetal back positioned anteriorly, fetal head flexed, a smaller amniotic pocket, and an unmoving fetal limb significantly reduced the feasibility. All failed attempts were in fetuses with their back located in anterior and in those with a deflexed head. Multivariate analysis did not converge because of the collinearity of most parameters. CONCLUSIONS: The ATV is an easy, simple, and accessible 2D method to visualize the FHP with no additional time.


Assuntos
Palato Duro/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Estudos de Viabilidade , Feminino , Humanos , Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto Jovem
12.
Vet J ; 197(2): 229-32, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23380228

RESUMO

Although some information exists on the stress response of horses in equestrian sports, the horse-rider team is much less well understood. In this study, salivary cortisol concentrations, heart rate (HR) and heart rate variability (HRV), SDRR (standard deviation of beat-to-beat interval) and RMSSD (root mean square of successive beat-to-beat intervals) were analysed in horses and their riders (n=6 each) at a public performance and an identical rehearsal that was not open to the public. Cortisol concentrations increased in both horses and riders (P<0.001) but did not differ between performance and rehearsal. HR in horses and riders increased during the rehearsal and the public performance (P<0.001) but the increase in HR was more pronounced (P<0.01) in riders than in their horses during the public performance (from 91 ± 10 to 150 ± 15 beats/min) compared to the rehearsal (from 94 ± 10 to 118 ± 12 beats/min). The SDRR decreased significantly during the equestrian tasks in riders (P<0.001), but not in their horses. The RMSSD decreased in horses and riders (P<0.001) during rehearsal and performance, indicating a decrease in parasympathetic tone. The decrease in RMSSD in the riders was more pronounced (P<0.05) during the performance (from 32.6 ± 6.6 to 3.8 ± 0.3 ms) than during the rehearsal (from 27.5 ± 4.2 to 6.6 ± 0.6 ms). The study has shown that the presence of spectators caused more pronounced changes in cardiac activity in the riders than it did in their horses.


Assuntos
Frequência Cardíaca/fisiologia , Cavalos/fisiologia , Hidrocortisona/fisiologia , Estresse Fisiológico/fisiologia , Adulto , Animais , Humanos , Masculino , Condicionamento Físico Animal , Esportes
13.
Arch Dis Child Fetal Neonatal Ed ; 96(5): F360-4, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21252198

RESUMO

OBJECTIVE: To determine the prevalence and the timing of pregnancy termination relative to the type of central nervous system (CNS) malformations. Design Retrospective cohort study. SETTING: Multidisciplinary centre for prenatal diagnosis in the Languedoc-Roussillon region, France. POPULATION: A cohort of 481 pregnancy terminations performed between 2005 and 2009. METHODS: Detailed post-termination fetal and neuropathological analyses were carried out to identify the CNS malformations. Then, the prevalence and timing of pregnancy termination were assessed relative to the identified malformations. RESULTS: About one-third of pregnancy terminations (143/481) were performed for severe CNS malformations. Up to 24 weeks of gestation (WG), pregnancy terminations (56.6%) were carried out mainly for defects occurring during the two major first steps of CNS development (neurulation and differentiation of cerebral vesicles). After 24 WG, pregnancy terminations (43.3%) were mainly performed for corpus callosum agenesis (16/17), vermian agenesis (10/12) and gyral anomalies (13/15). For hindbrain malformations and gyral anomalies, there was a significant relationship between the timing of pregnancy termination and the presence of a severe ventriculomegaly at prenatal diagnosis (p=0.002 and p=0.02, respectively). CONCLUSION: By classifying CNS malformations according to the neuropathological analysis, the authors show that the timing and prevalence of pregnancy termination are distributed in a manner that is consistent with what is currently known on the development of brain. They are also influenced by the French prenatal screening policy and the variable expressivity of the brain malformations and associated lesions.


Assuntos
Aborto Induzido/estatística & dados numéricos , Encéfalo/anormalidades , Doenças Fetais/epidemiologia , Aborto Induzido/métodos , Síndrome Acrocalosal/diagnóstico por imagem , Síndrome Acrocalosal/epidemiologia , Síndrome Acrocalosal/cirurgia , Encéfalo/embriologia , Ecoencefalografia/métodos , Feminino , Desenvolvimento Fetal , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/cirurgia , França/epidemiologia , Idade Gestacional , Humanos , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/cirurgia , Gravidez , Estudos Retrospectivos , Rombencéfalo/anormalidades , Rombencéfalo/diagnóstico por imagem , Ultrassonografia Pré-Natal
14.
Cleft Palate Craniofac J ; 48(4): 465-72, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20815708

RESUMO

OBJECTIVES: We wished to develop an ultrasound cephalometric analysis, particularly of the antero-posterior jaw relationship, to increase the accuracy of prenatal diagnosis of retrognathism during the routine midterm test. METHODS: Anatomical cephalometric analysis was performed in 18 formalin-fixed human fetuses (between 16 and 39 gestational weeks), and ultrasound cephalometry was prospectively carried out in 52 pregnant women (21 to 25 gestational weeks). The same landmarks were used in the anatomical and ultrasound median sagittal planes for comparison. Four cephalometric angles were measured relative to the anterior cranial base: alveolar projection of the maxilla and the mandible, chin projection, and facial angle. The antero-posterior jaw discrepancy was calculated. RESULTS: The projection of the maxilla was similar in the two cephalometric analyses (IC [-3.39, 0.23]), whereas the values of the projection of the mandible were lower in the ultrasound sample. The slope of the regression line of the antero-posterior jaw discrepancy on fetuses' age did not show significant differences (IC [-0.05, 1.54]) between anatomical and ultrasound cephalometry, although a difference of 3.23° ± 0.78° (IC [1.69, 4.77]) was observed. Despite this variability, the projections of mandible and chin were well determined by the projection of the maxilla both in the anatomical and ultrasound sample. CONCLUSIONS: Cephalometric analysis by prenatal sonography can be performed to study the antero-posterior jaw relationship. We think that this procedure could be useful to improve prenatal diagnosis of retrognathism in high-risk pregnancies. Further studies should address the reproducibility and accuracy of such analysis.


Assuntos
Cefalometria/métodos , Feto/anatomia & histologia , Mandíbula/embriologia , Maxila/embriologia , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Processo Alveolar/embriologia , Pontos de Referência Anatômicos/embriologia , Queixo/embriologia , Estudos Transversais , Estudos de Viabilidade , Feminino , Doenças Fetais/diagnóstico por imagem , Idade Gestacional , Humanos , Processamento de Imagem Assistida por Computador/métodos , Registro da Relação Maxilomandibular/métodos , Masculino , Gravidez , Estudos Prospectivos , Retrognatismo/diagnóstico por imagem , Fatores Sexuais , Base do Crânio/embriologia , Adulto Jovem
16.
Prenat Diagn ; 28(9): 796-9, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18661490

RESUMO

OBJECTIVES: To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. METHODS: We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. RESULTS: In the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11-q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes. CONCLUSIONS: The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS.


Assuntos
Síndrome de Prader-Willi/diagnóstico por imagem , Adulto , Feminino , Humanos , Hibridização in Situ Fluorescente , Poli-Hidrâmnios , Síndrome de Prader-Willi/genética , Gravidez , Ultrassonografia
17.
Cleft Palate Craniofac J ; 45(4): 439-45, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18616368

RESUMO

OBJECTIVE: To determine the anatomy of the soft and hard palate during fetal growth in order to improve its ultrasonographic prenatal visualization. DESIGN: Anatomic study in human formalin-fixed fetus. METHODS: The heads of 18 second and third trimester fetuses were studied in the median sagittal plan. Measurements of the soft palate, the velopharynx, the root of the tongue, and the oral floor were taken. The hard palate/soft palate angle and the anterior cranial base/soft palate angle were measured. RESULTS: The growth of the hard palate was linear, and the growth of the soft palate was polynomial (second order) during the period studied. The hard palate/soft palate angle was 150.33 degrees +/- 7.62 and 150.20 degrees +/- 6.67 in the second and third trimester, respectively. The anterior position of the soft palate in relation to the anterior cranial base was 48.8 degrees +/- 3.13 in the second trimester and 52.26 degrees +/- 3.31 in the third trimester. Its posterior position was 89.66 degrees +/- 5.51 in the second trimester and 92.97 degrees +/- 4.01 in the third trimester. Throughout the fetal period, the soft palate moved downward relative to the clivus and cervical spine. CONCLUSIONS: Despite the nonlinear growth and downward displacement of the soft palate during fetal life, its position remains stable. These results may be useful to explore the fetal soft palate using 2D and 3D ultrasonography and to improve the prenatal diagnosis of isolated cleft palate.


Assuntos
Palato Mole/diagnóstico por imagem , Palato Mole/embriologia , Ultrassonografia Pré-Natal , Cadáver , Vértebras Cervicais/embriologia , Fossa Craniana Posterior/embriologia , Feminino , Desenvolvimento Fetal , Humanos , Soalho Bucal/embriologia , Palato Duro/embriologia , Faringe/embriologia , Gravidez , Análise de Regressão , Base do Crânio/embriologia , Estatísticas não Paramétricas , Língua/embriologia
18.
Physiol Behav ; 93(3): 512-20, 2008 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-18045628

RESUMO

Tonic immobility (TI) is an unlearned fear response induced by a brief physical restraint and characterized by a marked autonomic nervous system involvement. This experiment aimed at studying the relative involvement of both autonomic sub-systems, the sympathetic and parasympathetic nervous systems, during TI, by analyzing Heart Rate Variability. Quail selected genetically for long (LTI) or short (STI) TI duration and quail from a control line (CTI) were used. The animals were surgically fitted with a telemetric device to record electrocardiograms before and during a TI test. Heart rate did not differ between lines at rest. The induction of TI, whether effective or not, induced an increase in HR characterized by a shift of the sympathovagal balance towards a higher sympathetic dominance. Parasympathetic activity was lower during effective than during non-effective inductions in CTI quail. During TI, the increase in sympathetic dominance was initially maintained and then declined, while relative parasympathetic activity remained low, especially in CTI and STI lines. The end of tonic immobility was characterized by a rise in overall autonomic activity in all lines and an increase in parasympathetic influence in CTI and STI quail. To conclude, the susceptibility to TI cannot be explained only by autonomic reflex changes. It is probably strongly related to the perception of the test by the quail. During TI, the differences between lines in autonomic responses probably reflect behavioural differences in the fear response.


Assuntos
Frequência Cardíaca/fisiologia , Resposta de Imobilidade Tônica/fisiologia , Codorniz/fisiologia , Antagonistas Adrenérgicos beta/farmacologia , Análise de Variância , Animais , Atropina/farmacologia , Comportamento Animal/efeitos dos fármacos , Eletrocardiografia/métodos , Feminino , Frequência Cardíaca/efeitos dos fármacos , Resposta de Imobilidade Tônica/efeitos dos fármacos , Parassimpatolíticos/farmacologia , Propranolol/farmacologia , Restrição Física/métodos , Telemetria/métodos , Fatores de Tempo
19.
Surg Radiol Anat ; 29(8): 695-8, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17999025

RESUMO

OBJECTIVE: The objective of this case report is to evaluate the faculty of a recently described original three-dimensional ultrasound technique to detect pathological processes of the fetal palate. METHOD: The palate of the fetus of a patient with a personal history of isolated incomplete cleft palate is evaluated by three-dimensional ultrasound at 34 weeks of gestation. The postnatal findings are compared to the prenatal investigation. RESULT: The used three-dimensional ultrasound technique provides selective visualization of the total hard palate which permits the prenatal diagnosis and multidisciplinary approach of an incomplete cleft palate. CONCLUSION: These prenatal findings might encourage further studies to confirm the value of this recently described innovative technique in the diagnosis and surgical prenatal counselling of fetal cleft palate.


Assuntos
Fissura Palatina/diagnóstico por imagem , Imageamento Tridimensional , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Humanos , Gravidez , Resultado da Gravidez
20.
J Exp Zool A Ecol Genet Physiol ; 307(2): 91-4, 2007 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-17171709

RESUMO

Maternal effects are a powerful tool that parents can use to modify the phenotype of their offspring. In birds, the amount of androgens that females deposit in their eggs has been shown to influence early development and adult behavioural phenotypes. Differences in such behavioural strategies have been used as the target of artificial selection programmes with a view to improve animal welfare. In this study, we tested whether artificial selection for divergent social behaviour in Japanese quail had resulted in correlated changes in yolk androgen levels. We used lines that had been selected at the chick stage for high and low motivation to regain contact with a group of conspecific chicks. This procedure has led to important behavioural differences in the high and low line in a suite of behavioural correlates of sociality. We found that eggs laid by the line selected for high motivation for social reinstatement contained more than twice the amount of yolk testosterone of eggs laid by females from the low line, while the unselected line laid eggs with intermediate levels. This finding strongly suggests a functional link between these two traits, and underlines the possible role of yolk androgen modulation in promoting the evolution of behavioural syndromes.


Assuntos
Coturnix/metabolismo , Proteínas do Ovo/análise , Seleção Genética , Comportamento Social , Testosterona/análise , Animais , Cruzamentos Genéticos , Masculino
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