Prenatal Diagnosis Of Congenital Anomalies

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1. New and Advanced Features of Fetal Intelligent Navigation Echocardiography (FINE): Congenital heart disease (CHD) is the leading organ-specific birth defect, as well as the leading cause of infant morbidity and mortality from congenital malformations. Therefore, a comprehensive screening examination of the fetal heart should be performed in all women to maximize the detection of CHD. Four-dimensional sonography with spatiotemporal image correlation (STIC) technology displays a cine loop of a complete single cardiac cycle in motion. A novel method known as Fetal Intelligent Navigation Echocardiography (FINE) was previously developed to interrogate STIC volume datasets using intelligent navigation technology. Such method allows the automatic display of nine standard fetal echocardiography views required to diagnose most cardiac defects. FINE considerably simplifies fetal cardiac examinations and reduces operator dependency. It has both high sensitivity and specificity for the detection of CHD. Indeed, FINE has been integrated into several commercially available ultrasound platforms. Recently, eight novel and advanced features have been developed for the FINE method and they are described in this article. Such features can be categorized based upon their broad goals. The first goal is to simplify FINE further, and consists of the following features: 1) Auto fetal positioning (or FINE align); 2) Skip points; 3) Predictive cursor; 4) Static mode volume; and 5) Breech sweep. The second goal is to allow quantitative measurements to be performed on the cardiac views generated by FINE: 6) Automatic cardiac axis; and 7) Cardiac biometry. Finally, the last goal is to improve the success of obtaining fetal echocardiography view(s), and consists of: 8) Maestro planar navigation. 2. Optical Ultrasound Simulation Based Training in Obstetric Sonography: Ultrasound is an imaging modality that is highly operator dependent. In this article, we reviewed the challenges in learning how to perform obstetric sonography, as well as the processes necessary to acquire expert performance skills in sonography. Simulation-based education and learning, and the value of medical simulation were also discussed. Ultrasound simulators are an effective means of teaching obstetric sonography, because it provides training, deliberate practice, and performance evaluation/feedback which allows continuous and critical self-evaluation. We reviewed evidence that simulation can improve performance in obstetric ultrasound examination, reviewed current simulators, and discussed the current problems/gaps in ultrasound simulation. Optical positioning ultrasound simulation is a novel high-fidelity simulation learning system, which addresses many of these problems/gaps, and we introduced this for the first time in this article. The technology uses a camera-based optical tracking system and has a limited amount of hardware, making the simulator compact, portable, and personal. A computer or laptop is used to load actual (vs. artificially created) ultrasound cases, which are organ-specific. The goal of the trainee is to achieve a sonographic target plane. The Guided mode uniquely provides: 1) simulator voice commands which instruct the user on how to manipulate the transducer; 2) contextual videos and animation; and 3) graphic feedback to guide the user towards obtaining the correct target plane of interest (e.g. four-chamber view). 3. The Amniotic Fluid Cell-Free Transcriptome: The amniotic fluid cell-free RNA (cfRNA) is modulated with physiologic and pathologic processes during pregnancy, and hence, we sought to define amniotic fluid normal expression and splicing patterns to aid the identification of biomarkers for assessing fetal development and obstetrical disease. About one hundred amniotic fluid transcriptomes were profiled in samples collected during midtrimester and at term, and we quantified the expression of tissue-specific and cell-type specific signatures defined by single-cell genomics. We found that 11% of the coding and 6% of the non-coding amniotic fluid genes were differentially expressed between midtrimester and term gestation. Expression changes with advancing gestation featured increased expression of genes specific to the trachea, salivary glands, and lung; and decreased expression of genes specific to the cardiac myocytes, uterus, and fetal liver, among others. We also found that differential splicing with advancing gestation involved genes related brain development and immunity pathways, including some that were missed based on differential expression analysis alone. Therefore, this is the largest amniotic fluid transcriptomics study in normal pregnancy, reporting for the first time that single-cell genomic signatures can be tracked in the amniotic fluid and display complex patterns of expression during gestation. We also demonstrated a role for alternative splicing in tissue-identity acquisition, organ development, and immune processes. The results herein may have implications for the development of fetal testing to assess placental function and fetal organ maturity.