37 research outputs found

    Antenatal automatic diagnosis of cleft lip via unsupervised clustering method relying on 3D facial soft tissue landmarks

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    Objectives Ultrasound (US) is the first-choice device to detect different types of facial dysmorphisms. Anyway, at present no standard protocol has been defined for automatic nor semi-automatic diagnosis. Even though the practitioner's contribution is core, steps towards automatism are to be undertaken. We propose a methodology for diagnosing cleft lip on 3D US scans. Methods A bounded Depth Minimum Steiner Trees (D-MST) clustering algorithm is proposed for discriminating groups of 3D US faces relying on the presence/absence of a cleft lip. The analysis of 3D facial surfaces via Differential Geometry is adopted to extract landmarks. Thus, the extracted geometrical information is elaborated to feed the unsupervised clustering algorithm and produce the classification. The clustering returns the probability of being affected by the pathology, allowing physicians to focus their attention on risky individuals for further analysis. Results The feasibility is tested upon the available 3D US scans data and then deeply investigated for a large dataset of adult individuals. 3D facial Bosphorus database is chosen for the testing, which seven cleft lip-affected individuals are added to, by artificially creating the defect. The algorithm correctly separates left and right-sided cleft lips, while healthy individuals create a unique cluster; thus, the method shows accurate diagnosis results. Conclusions Even if further testing is to be performed on tailored datasets made exclusively of fetal images, this techniques gives hefty hints for a future tailored algorithm. This method also fosters the investigation of the scientific formalisation of the "normotype", which is the representative face of a class of individuals, collecting all the principal anthropometric facial measurements, in order to recognise a normal or syndromic fetus

    Prenatal rectal perforation: an unsuspected cause of isolated ascites

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    In fetal intestinal perforation, inflammation leads to production of ascites. Small bowel is usually involved by perforation with the distal ileum the most frequent site. We report the first case of prenatal perforation of the intraperitoneal part of the rectum, which presented as severe ascites at a 37 weeks' gestation antenatal ultrasonography. As none of the reported causes of intestinal perforation were identified in our case, its etiology remained idiopathi

    Reference charts for fetal corpus callosum length: a prospective cross-sectional study of 2950 fetuses.

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    Objectives-The purpose of this study was to establish reference charts for fetal corpus callosum length in a convenience sample. Methods-A prospective cross-sectional study was conducted at the Artemisia Fetal-Maternal Medical Center between December 2008 and January 2012. Among 16,975 fetal biometric measurements between 19 weeks and 37 weeks 6 days' gestation, 3438 measurements of the corpus callosum (20.3%) were available. After excluding 488 measurements (14.2%), a total of 2950 fetuses (85.8%) were considered and analyzed only once. Parametric and nonparametric quantile regression models were used for the statistical analysis. To evaluate the robustness of the proposed reference charts with respect to various distributional assumptions on the sonographic measurements at hand, we compared the gestational age (GA)-specific reference curves produced by the statistical methods used. Results-The mean corpus callosum length was 26.18 mm (SD, 4.5 mm; 95% confidence interval, 26.01-26.34 mm). The linear regression equation expressing the length of the corpus callosum as a function of GA was length (mm) = 11.17 + 1.62 x GA. The correlation between the dimension and gestation was expressed by the coefficient r = 0.83. Normal mean lengths according the parametric and nonparametric methods were defined for each week of gestation. Conclusions-This work provides new quantile-based reference charts for corpus callosum length measurements that maybe useful for diagnosis of congenital corpus callosum anomalies in fetal life

    Ultrasonographic evaluation of placental cord insertion at different gestational ages in low-risk singleton pregnancies: a predictive algorithm

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    Objective: To evaluate the accuracy of ultrasound in visualizing placental cord insertion (PCI) at different gestational ages in order to recommend the most feasible period during pregnancy to identify it. Secondary aim was to propose a predictive algorithm for PCI visualization. Methods: We performed a single-center, prospective cohort study. We enrolled patients with singleton low-risk pregnancies who underwent fetal ultrasound scan at different gestational ages. We excluded patients with body mass index of 30 Kg/m2 or more, uterine fibroids larger than 5 cm, high-risk pregnancies, fetal weight lower than 10° percentile or higher than 90° percentile, increased (“deep pocket” > 80 mm) or decreased (“deep pocket” < 20 mm) amniotic fluid. Results: Among the 468 recruited patients, the visualization of PCI was not possible in 5.77% of the cases. Furthermore, we showed that PCI visualization was lower as the gestational age increased (p = 0.049) and more difficult in case of posterior placenta (p = 0.001). Conclusions: PCI should be evaluated in the first trimester or as early as possible during the second trimester. Moreover, we propose a feasible model to predict the possibility of PCI visualization according to gestational age and uterine site of implantation

    Proteomic analysis for the study of amniotic fluid protein composition.

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    Abstract Amniotic fluid (AF), routinely used for prenatal diagnosis, contains large amounts of proteins produced by the amnion epithelial cells, fetal tissues, fetal excretions and placental tissuesAlthough many amniotic fluid proteins have been identified and are currently used to detect potential fetal anomalies, little is known about the functions of these proteins and how they interact with one another. Identification of changes in the protein content of amniotic fluid, therefore, may be used to detect a particular type of pathology, or to ascertain a specific genetic disorder. In the present work we used a proteomic approach, combining 2DE and MS, in order to study the protein composition of AFS

    [Prenatal diagnosis of congenital diaphragmatic hernia: an update].

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    Congenital diaphragmatic hernia (CDH) has an incidence of approximately 1:4000 live births. Most frequently the diaphragmatic defect is a left and posterolateral (Bochdalek) one. Prenatal diagnosis is made at ultrasonography; the relevant sonographic features will be described in the paper. Cystic adenomatoid malformation of the lung (CAML), pulmonary sequestration, bronchogenic cysts, pulmonary hypoplasia/agenesia need to be considered in differential diagnosis. In some cases, diagnosis of CDH is not possible "in utero": in such cases, herniation of abdominal viscera into the thorax takes place presumably just at delivery through a small diaphragmatic defect. CDH may be associated with intrauterine growth retardation (IUGR), chromosomal abnormalities (3%) and/or other malformations (10-50%): such as Central Nervous System, digestive, cardiac and urogenital anomalies. Therefore, search of associated malformations and amniocentesis with analysis of fetal karyotype are mandatory, whenever a CDH is diagnosed. CDH is still at present characterised by a high mortality (reportedly, about 45%). Many prognostic factors have been correlated to postnatal outcome of CDH: some of them are valuable prenatally by ultrasonography. However, the role of sonography in the prediction of neonatal outcome is still controversial: in particular, although many ultrasonographic parameters have been proposed, prenatal evaluation of pulmonary hypoplasia (a crucial factor related to postnatal survival) has not proved to be very accurate so far. Nevertheless, it is undisputable that prenatal diagnosis itself represents a crucial prognostic factor for CDH, since it allows birth of the affected fetuses in 3d level Perinatologic Centres provided with a Neonatal Intensive Care Unit and Neonatal Surgery.Congenital diaphragmatic hernia (CDH) has an incidence of approximately 1:4000 live births. Most frequently the diaphragmatic defect is a left and posterolateral (Bochdalek) one. Prenatal diagnosis is made at ultrasonography; the relevant sonographic features will be described in the paper. Cystic adenomatoid malformation of the lung (CAML), pulmonary sequestration, bronchogenic cysts, pulmonary hypoplasia/agenesia need to be considered in differential diagnosis. In some cases, diagnosis of CDH is not possible "in utero": in such cases, herniation of abdominal viscera into the thorax takes place presumably just at delivery through a small diaphragmatic defect. CDH may be associated with intrauterine growth retardation (IUGR), chromosomal abnormalities (3%) and/or other malformations (10-50%): such as Central Nervous System, digestive, cardiac and urogenital anomalies. Therefore, search of associated malformations and amniocentesis with analysis of fetal karyotype are mandatory, whenev
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