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ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a neurodevelopmental disorder characterized by hypotonia, developmental delay, and intellectual disability. Diagnosis is typically made postnatally, and little is known about prenatal presentation of the disorder. We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome. [ABSTRACT FROM AUTHOR]

The use of ultrasound for pregnancy monitoring is critical for the evaluation of hemodynamic parameters essential to fetal viability. In the present study, using B-mode and Doppler ultrasound, we characterized the placenta, subplacenta, maternal, and fetal vessels during normal gestation of healthy agoutis raised in captivity. In total, 30 agoutis were obtained from the Center for the Study and Preservation of Wild Animals, Center of Agricultural Sciences, Federal University of Piauí (Núcleo de Estudos e Preservação de Animais Silvestres—NEPAS, Centro de Ciências Agrárias—CCA, Universidade Federal do Piauí—UFPI). These animals were subjected to B-mode and Doppler ultrasound examinations to evaluate their maternal and fetal hemodynamic profiles. The placenta was located in the mesometrial region and had a discoid, ellipsoid, or globular aspect. With spectral Doppler, characteristic systolic and diastolic flow was observed in the umbilical artery. This flow increased during pregnancy. A cross-sectional view revealed a goblet-shaped placenta. The uteroplacental blood flow was characterized by a marked increase in systolic peak velocity during pregnancy, the presence of a rapid deceleration ramp, and a relatively high diastolic speed. The fetal aortic vascular flow was predominantly systolic and diastolic. The caudal vena cava blood flow was characterized by a systolic peak followed by a decreased diastolic wave throughout pregnancy. In the present study, we characterized the morphologic and hemodynamic interactions of the placenta/subplacenta with maternal and fetal vessels in agoutis at 30, 45, 60, 75, and 90 days gestation using B-mode and Doppler ultrasound. We determined the approximation and separation of the blood flow values of the umbilical artery, subplacental flow, uteroplacental artery, fetal aorta, and fetal vena cava. We believe these values may contribute to an understanding of the gestational biology and aid delivery prediction in this species. [ABSTRACT FROM AUTHOR]

Objectives: To establish a prediction model for fetal congenital heart disease (CHD) that could facilitate selective fetal echocardiography screening for diabetic women, and to provide cost analysis of selective versus global screening of these women.Study Design: A historical cohort study included women with pre-gestational diabetes who received perinatal care at Mayo Clinic, Minnesota from 2007 through 2013. Anatomical scans and fetal echocardiograms were reviewed and charts for postnatal outcomes were abstracted. Logistic regression models were utilized to identify predictors of CHD. Cost of global versus selective screening was estimated using cost per case detected.Results: A cohort of 152 women was included. Abnormal anatomy scan was reported in five (3.3%). Among 51 (33.6%) who had fetal echocardiography, eight (15.7%) had abnormal findings. Postnatal echocardiography was conducted in 36 neonates, 12 had abnormalities. Only first trimester HbA1c was independent predictor with observed incidence of CHD of 1.8, 14.3, and 40% and HbA1c of <8, 8-10, and >10% respectively. Global screening strategy missed 22% of fetal cardiac abnormalities, while selective screening missed 33%.Conclusions: According to our probability model, selective screening based on HbA1c and/or anatomic surveys seems to be an accurate and cost effective strategy for prenatal diagnosis of CHD among diabetic pregnancies. [ABSTRACT FROM AUTHOR]

Abstract: Isolated congenital heart block is linked to transplacental passage of maternal anti-SSA/Ro and/or anti-SSB/La antibodies that may be related to a connective tissue disease. Ultrasonography and Doppler are essential to screen fetus at risk. They allow the diagnosis of first- and second-degree blocks which are probably preliminary stages in conducting tissue''s injury. In these situations, a maternal treatment by fluorinated steroids can be proposed because of its possible effect on partial blocks. However, these early signs of nodal injury can be lacking: some fetus present a complete heart block without previously detected less advanced block. Moreover, the significance of first-degree block is unclear since it could reverse spontaneously. Other markers of nodal injury would be valuable. In case of complete congenital heart block, ultrasonography is useful to detect congestive heart failure and help the obstetrical management when unfavorable prognostic signs occur. [Copyright &y& Elsevier]

• A cascaded DW-Net, which is composed of DCC and W-Net, is proposed to segment seven anatomical structures in A4C views. • DCC aims to accurately localize multiple anatomical structures, while W-Net aims to outline fuzzy boundaries. • Our dataset was randomly selected from Anzhen Hospital. Our method can retain robust to the variation of image quality. • It is the first time that CNN-based method is applied in the segmentation of multi-tissue in A4C views from fetal echocardiography. Fetal echocardiography (FE) is a widely used medical examination for early diagnosis of congenital heart disease (CHD). The apical four-chamber view (A4C) is an important view among early FE images. Accurate segmentation of crucial anatomical structures in the A4C view is a useful and important step for early diagnosis and timely treatment of CHDs. However, it is a challenging task due to several unfavorable factors: (a) artifacts and speckle noise produced by ultrasound imaging. (b) category confusion caused by the similarity of anatomical structures and variations of scanning angles. (c) missing boundaries. In this paper, we propose an end-to-end DW-Net for accurate segmentation of seven important anatomical structures in the A4C view. The network comprises two components: 1) a Dilated Convolutional Chain (DCC) for "gridding issue" reduction, multi-scale contextual information aggregation and accurate localization of cardiac chambers. 2) a W-Net for gaining more precise boundaries and yielding refined segmentation results. Extensive experiments of the proposed method on a dataset of 895 A4C views have demonstrated that DW-Net can achieve good segmentation results, including the Dice Similarity Coefficient (DSC) of 0.827, the Pixel Accuracy (PA) of 0.933, the AUC of 0.990 and it substantially outperformed some well-known segmentation methods. Our work was highly valued by experienced clinicians. The accurate and automatic segmentation of the A4C view using the proposed DW-Net can benefit further extractions of useful clinical indicators in early FE and improve the prenatal diagnostic accuracy and efficiency of CHDs. [ABSTRACT FROM AUTHOR]

Diastematomyelia is a rare congenital anomaly where there is complete or partial duplication of the spinal cord as a result of a fibrous, cartilaginous or osseous spur. By 1994 only 100 cases had been reported worldwide. Diagnosis, if prenatal, is usually late 3rd trimester. This poster depicts a case study illustrating ultrasound appearances at 17 weeks gestation and prenatal diagnosis of Diastematomyelia at 24 weeks describing Epidemiology, Presentation, Associated Anomalies, Ultrasound appearances, Treatment and Prognosis. Due to the infrequent presentation and low recorded incidence of Diastematomyelia, limited literature is available on this condition. The purpose of this poster is to rectify this dilemma. 1. To raise awareness of the sonographic appearance of the extremely rare Diastematomyelia. 2. To disseminate the importance of an early diagnosis to promote 'Best Practice Care' and better patient outcomes. 3. To encourage sonographers to be vigilant and ensure thorough scanning. -A thorough obstetric ultrasound examination concentrating on morphology was performed utilising a Toshiba Aplio unit and 10 MHZ and 3.5MHZ curved array transducers. -Maternal and fetal structures were interrogated and documented paying particular attention to the transverse, longitudinal and coronal images of the fetal spine, skin-line and fetal cranium when a spinal abnormality was suspected. -Ultrasound appearances were compared with normal anatomy. Identification of an additional spinal cord posterior ossification centre is pathognomic for ultrasound antenatal diagnosis of Diastematomyelia. The resultant significance of this poster research is to promote earlier diagnosis of this fetal anomaly and associated abnormalities assisting parents with informed decisions concerning obstetric care if their baby is affected by Diastematomyelia. [ABSTRACT FROM AUTHOR]