Prenatal Diagnosis Of Congenital Anomalies

先天性异常的产前诊断

• 批准号: 7208934
• 负责人: ROBERTO ROMERO
• 金额: --
• 依托单位: EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7208934
• 关键词: Downs syndrome; amniocentesis; bioimaging /biomedical imaging; congenital disorders; diagnosis design /evaluation; female; genetic disorder diagnosis; heart circulation; heart disorder diagnosis; heart imaging /visualization /scanning; human pregnant subject; human subject; liver circulation; liver disorder diagnosis; liver imaging /visualization /scanning; longitudinal human study; lung imaging /visualization /scanning; patient oriented research; pregnancy circulation; prenatal diagnosis; respiratory disorder diagnosis; three dimensional imaging /topography; ultrasound blood flow measurement; women' s health

Congenital anomalies are the second leading cause of perinatal mortality in the United States after premature birth. Advances in imaging techniques have allowed the in utero detection of many anatomical defects with ultrasound. The goal of this project is to improve the diagnosis and treatment of fetal disease and congenital anomalies. The Perinatology Research Branch has initiated a series of projects to improve the detection of congenital anomalies and assess fetal growth and development with the use of three-dimensional ultrasound. A substantial effort has been invested in the development of techniques to improve the prenatal diagnosis of congenital heart disease since this is the leading cause of death among fetuses with congenital anomalies. The findings of this year include the following: 1. Digital casts of the great vessels and venous return to the heart using four-dimensional ultrasound: Investigators at the Perinatology Research Branch described a technique for reconstruction of the great vessels and venous return to the heart using four-dimensional ultrasonography with spatiotemporal image correlation (STIC), and inversion mode or B-flow imaging. Four-dimensional reconstruction of cardiovascular structures using these techniques allowed the visualization of ?digital casts? similar to the silicone rubber casts of the cardiovascular system that can be obtained during postmortem examinations. Spatial relationships between the outflow tracts, the connections of the great arteries to the ventricular chambers, and the connections between the venous system and atrial chambers could be clearly observed. The technique was applied to the diagnosis of coarctation of the aorta, transposition of the great arteries, double outlet right ventricle, pulmonary stenosis, pulmonary atresia and interruption of the inferior vena cava with azygous or hemiazygous continuation. In addition to improved visualization of the outflow tracts and venous return to the heart, the application of inversion mode to volume datasets of the four-chamber view allowed sharper delineation of the cardiac contours, atrioventricular valves and ventricular septal defects when compared to two-dimensional ultrasound. Three-dimensional ultrasound with inversion mode was also used for the reconstruction of fluid-filled structures such as the stomach, the ventricular system of the brain, and dilated ureters and renal pelvis in cases of urinary tract obstruction. 2. Individualized growth assessment of normal fetuses using three-dimensional ultrasound: This study introduced a new soft tissue parameter that can be evaluated by three-dimensional ultrasound -fractional arm volume (AVol) - for longitudinal assessment of fetal growth. Individualized growth standards based on Rossavik models were developed using AVol, mid arm circumference (ArmC), and humeral diaphysis length (HDL). Twenty-two fetuses were prospectively studied by two- and three-dimensional ultrasound. Second-trimester models were constructed from the linear slopes of growth curves before 28 weeks of gestation and normal third-trimester trajectories were predicted for each parameter. The Rossavik functions fit all parameter trajectories extremely well (R(2)=95.7%-99.4%) and the mean percent deviations between observed and predicted third-trimester HDL, ArmC, and AVol measurements were -0.1% +/- 2.9%, 0.5% +/- 4.6%, and 0.4% +/- 8.5%, respectively. The study demonstrated that individualized growth assessment can be performed by volumetric measurements of the fetal arm and that third trimester fetal arm growth can be accurately predicted. AVol may allow early detection and improved monitoring of soft tissue abnormalities that occur in fetuses with growth disorders. 3. Prevalence and clinical significance of amniotic fluid 'sludge' in patients with preterm labor and intact membranes: The Branch examined the clinical significance of dense aggregates of particular matter in the proximity of the cervical canal ? amniotic fluid ?sludge? - an ultrasound finding that is frequently observed in patients with preterm labor and intact membranes. The prevalence of amniotic fluid ?sludge? was determined in 84 patients with preterm labor and intact membranes and 298 uncomplicated pregnancies at term. The frequency of microbial invasion of the amniotic cavity (MIAC), histological chorioamnionitis, examination-to-delivery interval, admission to the neonatal intensive care unit (NICU), composite neonatal morbidity, perinatal death, and delivery within 48 h, 7 days, and < 35 weeks and < 32 weeks were compared between the two groups. The prevalence of amniotic fluid 'sludge' was 1% (3/298) in patients with uncomplicated term pregnancies and 22.6% (19/84) in those with preterm labor and intact membranes. The rate of spontaneous preterm delivery was higher in patients with amniotic fluid 'sludge'. Patients with amniotic fluid ?sludge? had a higher frequency of positive amniotic fluid cultures [33.3% (6/18) vs. 2.5% (1/40), P = 0.003] and histological chorioamnionitis [77.8% (14/18) vs. 19% (11/58), P < 0.001] and, in addition, their neonates were admitted to the NICU [64.3% (9/14) vs. 12.9% (8/62), P < 0.01] or died more often [36.8% (7/19) vs. 4.6% (3/65), P = 0.001] than those without amniotic fluid 'sludge'.

先天性异常是在早产后美国围产期死亡率的第二大主要原因。成像技术的进步允许在子宫内检测许多具有超声的解剖缺陷。该项目的目的是改善胎儿疾病和先天性异常的诊断和治疗。围产科研究部门已经发起了一系列项目，以改善先天性异常的检测，并通过使用三维超声来评估胎儿的生长和发育。已经为改善先天性心脏病产前诊断的技术发展了大量努力，因为这是先天性异常胎儿死亡的主要原因。今年的发现包括以下内容： 1。使用四维超声波的数字铸件和静脉静脉恢复心脏：围产研究分支的研究人员描述了一种重建大血管的技术，并使用四维超声检查使用四维超声检查，使用四维超声检查静脉内图像相关性（STIC）和倒置模式或b-fllfllign to。使用这些技术对心血管结构进行四维重建可以可视化数字铸件吗？类似于在验尸检查期间可以获得的心血管系统的硅胶橡胶铸件。可以清楚地观察到流出区之间的空间关系，大动脉与心室腔室的连接以及静脉系统与心房腔之间的连接。该技术用于诊断主动脉缩减的诊断，大动脉的转座，双出出右心室，肺部狭窄，肺闭锁和下腔静脉中的中断。除了改善流出道的可视化和静脉恢复到心脏外，与二维超声相比，倒置模式在四室视图的音量数据集中的应用还使心脏轮廓，室内室内瓣膜和心室中的缺陷的描述更加清晰。在尿路阻塞的情况下，还使用了带有反转模式的三维超声进行反转模式，例如胃部填充结构，例如胃，大脑的心室系统以及扩张的输尿管和肾脏骨盆。 2。使用三维超声对正常胎儿的个性化生长评估：这项研究引入了一种新的软组织参数，可以通过三维超声 - 分离臂体积（AVOL）评估，以便对胎儿生长进行纵向评估。使用Avol，中臂（ARMC）和肱骨隔膜长度（HDL）开发了基于Rossavik模型的个性化生长标准。前瞻性和三维超声检查了22个胎儿。在妊娠28周之前，由生长曲线的线性斜率构建了二个月模型，每个参数预测了正常的三个月轨迹。 Rossavik函数非常适合所有参数轨迹（R（2）= 95.7％-99.4％），观察到的和预测的第三孕HDL，ARMC和AVOL测量值之间的平均百分比偏差为-0.1％+/- 2.9％，0.5％+/- 4.6％和0.4％+/-4.6％和0.4％+/-- 8.5％，相应地分别为0.5％+/- 4.6％。该研究表明，可以通过体积测量胎儿进行个性化的生长评估，并且可以准确预测三个月胎儿臂生长。 Avol可以允许早期检测并改善对生长障碍胎儿中软组织异常的监测。 3。在早产和完整膜患者中羊水“污泥”的患病率和临床意义：该分支研究了特定物质密集骨料在颈椎管接近的临床意义吗？羊水？污泥？ - 在早产和完整膜的患者中经常观察到的超声发现。羊水的患病率？污泥？在84例早产和完整膜的患者中确定，期为298例，任期为298例。羊膜腔（MIAC）微生物入侵的频率，组织学性脉络膜炎，检查间隔间隔，新生儿重症监护病房（NICU），复合新生儿发病率，围产期死亡以及在48 h，7天，7天和<35周和<32周之间的交付。在妊娠期间妊娠的患者中，羊水“污泥”的患病率为1％（3/298），在早产和完整膜的患者中，患者为22.6％（19/84）。羊水“污泥”患者的自发早产率较高。羊水？污泥的患者？阳性羊水培养基的频率较高[33.3％（6/18）vs. 2.5％（1/40），P = 0.003]和组织学绒毛膜膜炎[77.8％（14/18）vs. 19％（11/58），P <0.001]，P <0.001]，以及他们的Neonates均为NICU [64.3％（9/14）[64.3％（9/14）。 （8/62），p <0.01]或与没有羊水'污泥'的那些相比，死亡经常[36.8％（7/19）vs. 4.6％（3/65），p = 0.001]。