Prenatal Diagnosis Of Congenital Anomalies

答：胎儿智能导航优于人工导航，超声检查胎儿心脏 先天性心脏病(CHD)是最常见的器官系统出生缺陷，与出生缺陷有关，是婴儿发病率和死亡率的主要原因。2013年，治疗冠心病儿童的医院费用超过60亿美元。所有怀孕都应该接受产前超声检查心脏缺陷，因为高达90%的病例发生在没有危险因素的情况下。此外，有证据表明，对特定心脏异常的产前诊断可以改善手术后的存活率，以及长期的神经认知功能和预后。超声对先天性心脏病的总体产前检测率仍然不是最理想的。为了解决这些问题，PRB成功地开发了一种名为胎儿智能导航超声心动图(FINE)的新方法来询问胎儿超声心脏容量数据集。该方法允许自动显示诊断大多数心脏缺陷所需的九个标准胎儿心脏切面。这种精细的方法简化了对胎儿心脏的检查，并减少了对操作员的依赖。几乎所有的超声波检查都使用手动导航来检查胎儿心脏。我们进行了一项研究，以比较非专业声学家对胎儿心脏的手动导航和智能导航(FINE)的性能。这项前瞻性观察研究包括10名声学家，他们接受了两种导航方法的正式培训。随后，我们测试了参与者使用这种方法从5个STIC体积的正常胎儿心脏(1928孕周)获得9个心脏切面的能力。两种方法都确定了以下参数：1)获得9个心脏切面的成功率；2)每个超声医师获得9个心脏切面的平均时间；以及3)每个STIC体积成功获得心脏切面的最大数量。 所有胎儿心脏图像来自100个STIC体积(每种导航方法50个)，并由胎儿超声心动图专家审查。与人工导航相比，FINE有以下优点：1)获得8个合适的心脏切面(不包括腹部切面)的成功率更高(92100%vs.5688%；P&lt；0.05)；2)获得9个心脏切面的平均时间(分钟：秒)更短(2：11 0：37 vs.15：49 7：44；p&lt；0.0001)；3)获得特定STIC量的所有9个心脏切面的成功率更高(86%vs.14%；p&lt；0.001)。 我们的结论是，当由非专业声学家执行时，智能导航(FINE)比人工导航胎儿心脏具有更好的性能。具体地说，FINE在92%-100%的病例中获得了合适的胎儿心脏切面。 B.Syndecan-1：胎儿生长受限的生物标志物 胎儿发育障碍的识别是产科的一个重要优先事项，因为这种情况增加了围产期发病率和死亡率以及成人疾病的风险。小于胎龄儿(SGA)的一个子集是生长受限的，这通常被归因于胎盘功能不全。Syndecan-1是内皮细胞糖基化降解的产物，已被认为是不同病理条件下内皮细胞损伤的生物标志物。在怀孕期间，有一种特殊形式的糖萼--合体滋养层糖萼，它覆盖着胎盘绒毛。 我们进行了一项研究，以确定母体血浆Syndecan-1浓度是否可以作为胎儿生长受限的生物标志物。一项横断面研究包括正常妊娠妇女(n=130)和分娩SGA新生儿的孕妇(n=50)。对诊断为SGA胎儿的妇女进行子宫动脉和脐动脉的多普勒血流检测。在多普勒测速后48小时内进行静脉穿刺术，用特异和灵敏的免疫法测定血浆中Syndecan-1的浓度。 结果表明，妊娠合并胎龄性早破的孕妇血浆Syndecan-1平均浓度显著低于胎龄适宜的孕妇(P=0.005)。这一差异归因于胎儿生长受限，因为只有脐动脉和子宫动脉多普勒测速异常的重度胎龄儿的平均血浆Syndecan-1浓度显著低于对照组(p=0.00071；调整后的p=0.0028)。在SGA胎儿中，脐动脉和子宫动脉多普勒发现异常的妇女平均血浆Syndecan-1浓度显著降低(p=0.02；调整后p=0.04)。血浆Syndecan-1浓度为850 ng/mL时，其阳性似然比为4.4，阴性似然比为0.24，用于诊断脐动脉血流速度异常的母亲(ROC曲线下面积0.83；p&lt；0.001)。本研究结果提示，血浆Syndecan-1可作为识别胎儿生长受限的生物标志物。

A. Fetal intelligent navigation is superior to manual navigation to examine the fetal heart with ultrasound Congenital heart disease (CHD) is the most common birth defect by organ system, and the leading cause of infant morbidity and mortality related to birth defects. In 2013, hospital costs exceeded $6 billion to care for children with CHD. All pregnancies should undergo prenatal sonographic screening for cardiac defects, since up to 90% of cases occur in the absence of risk factors. Moreover, there is evidence that prenatal diagnosis of specific cardiac anomalies improves the survival after surgery, and long-term neurocognitive function and outcome. The overall prenatal detection rate for congenital heart disease with ultrasound remains suboptimal. To address these issues, the PRB successfully developed a novel method known as Fetal Intelligent Navigation Echocardiography (FINE) to interrogate fetal sonographic cardiac volume datasets. This method allows the automatic display of nine standard fetal cardiac views required to diagnose most cardiac defects. The FINE method simplifies examination of the fetal heart and reduces operator dependency. Virtually all ultrasound examinations use manual navigation to examine the fetal heart. We conducted a study to compare the performance between manual and intelligent navigation (FINE) of the fetal heart by non-expert sonologists. This prospective observational study included ten sonologists who underwent formal training on both navigational methods. Subsequently, we tested the ability of participants to obtain nine cardiac views from five STIC volumes of normal fetal hearts (1928 gestational weeks) using such methods. The following parameters were determined for both methods: 1) success rate of obtaining nine cardiac views; 2) mean time to obtain nine cardiac views per sonologist; and 3) maximum number of cardiac views successfully obtained for each STIC volume. All fetal cardiac images were obtained from 100 STIC volumes (50 for each navigational method) and reviewed by an expert in fetal echocardiography. Compared to manual navigation, FINE had a: 1) higher success rate of obtaining eight (excluding the abdomen view) appropriate cardiac views (92100% vs. 5688%; all p<0.05); 2) shorter mean time (minute:seconds) to obtain nine cardiac views (2:11 0:37 vs. 15:49 7:44; p<0.0001); and 3) higher success rate of obtaining all nine cardiac views for a given STIC volume (86% vs. 14%; p<0.001). We conclude that when performed by non-expert sonologists, intelligent navigation (FINE) had a superior performance than manual navigation of the fetal heart. Specifically, FINE obtained appropriate fetal cardiac views in 92%-100% of cases. B. Syndecan-1: a biomarker for fetal growth restriction The identification of fetal growth disorders is an important priority in obstetrics since this condition increases the risk of perinatal morbidity and mortality, as well as adult disease. A subset of small for gestational age (SGA) infants are growth restricted and this is often attributed to placental insufficiency. Syndecan-1, a product of the degradation of the endothelial glycocalyx, has been proposed as a biomarker of endothelial damage in different pathological conditions. During pregnancy, there is a specialized form of the glycocalyx the syncytiotrophoblast glycocalyx which covers the placental villi. We conducted a study to determine whether maternal plasma syndecan-1 concentrations can be used as a biomarker for fetal growth restriction. A cross-sectional study was performed to include women with normal pregnancy (n=130) and pregnant women who delivered SGA neonates (n=50). Doppler velocimetry of the uterine artery and umbilical artery was performed in women with SGA fetuses at the time of diagnosis. Venipuncture was performed within 48 hours of Doppler velocimetry and plasma concentrations of syndecan-1 were determined by a specific and sensitive immunoassay. The results showed that the mothers with pregnancies complicated with an SGA fetus had a significantly lower mean plasma concentration of syndecan-1 than those with an appropriate for gestational age fetus (p=0.005). This difference was attributed to fetal growth restriction as the mean plasma syndecan-1 concentration was significantly lower only in the group of women with SGA fetuses with an abnormal umbilical and uterine artery Doppler velocimetry compared to controls (p=0.00071; adjusted p=0.0028). Among women with SGA fetuses, those with abnormal umbilical and uterine artery Doppler findings had a significantly lower mean plasma syndecan-1 concentration (p=0.02; adjusted p=0.04). A plasma syndecan-1 concentration < 850 ng/mL had a positive likelihood ratio of 4.4 and a negative likelihood ratio of 0.24 for the identification of a mother with an SGA fetus with abnormal umbilical artery Doppler velocimetry (area under the ROC curve 0.83; p < 0.001). The results of this study suggest that plasma syndecan-1 could be used as a biomarker to identify fetal growth restriction.