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'.

先天性畸形是美国围产期死亡的第二大原因，仅次于早产。成像技术的进步使得可以通过超声波在子宫内检测许多解剖缺陷。该项目的目标是改善胎儿疾病和先天异常的诊断和治疗。围产学研究分部启动了一系列项目，以利用三维超声改进先天异常的检测并评估胎儿的生长和发育。由于先天性心脏病是先天性异常胎儿死亡的主要原因，因此已投入大量精力开发技术来改善先天性心脏病的产前诊断。今年的调查结果包括以下内容： 1. 使用四维超声进行大血管和静脉回流心脏的数字化模型：围产期研究部门的研究人员描述了一种使用具有时空图像相关性的四维超声检查重建大血管和静脉回流心脏的技术(STIC) 和反转模式或 B 流成像。使用这些技术对心血管结构进行四维重建可以实现“数字铸型”的可视化。类似于在尸检过程中获得的心血管系统的硅橡胶铸件。流出道之间的空间关系、大动脉与心室的连接以及静脉系统与心房之间的连接都可以清晰地观察到。该技术适用于诊断主动脉缩窄、大动脉转位、右心室双出口、肺动脉狭窄、肺动脉闭锁以及下腔静脉奇点或半奇点延续中断。除了改善流出道和静脉回流到心脏的可视化之外，与二维相比，将反演模式应用于四腔视图的体积数据集可以更清晰地描绘心脏轮廓、房室瓣和室间隔缺损超声波。具有反转模式的三维超声还用于重建充满液体的结构，例如胃、脑室系统以及尿路梗阻情况下扩张的输尿管和肾盂。 2.利用三维超声对正常胎儿进行个体化生长评估：本研究引入了一种新的可以通过三维超声评估的软组织参数——手臂体积分数（AVol）——用于纵向评估胎儿生长。使用 AVol、中臂周长 (ArmC) 和肱骨骨干长度 (HDL) 开发基于 Rossavik 模型的个体化生长标准。通过二维和三维超声对二十二个胎儿进行了前瞻性研究。根据妊娠 28 周前生长曲线的线性斜率构建中期妊娠模型，并预测每个参数的正常中期妊娠轨迹。 Rossavik 函数非常适合所有参数轨迹 (R(2)=95.7%-99.4%），观察到的和预测的妊娠晚期 HDL、ArmC 和 AVol 测量值之间的平均百分比偏差为 -0.1% +/- 2.9%，分别为 0.5% +/- 4.6% 和 0.4% +/- 8.5%。该研究表明，可以通过胎儿手臂的体积测量来进行个体化生长评估，并且可以准确预测妊娠晚期胎儿手臂的生长。 AVol 可以实现对生长障碍胎儿软组织异常的早期检测和改善监测。 3. 早产和胎膜完整的患者中羊水“淤泥”的患病率和临床意义：该部门检查了宫颈管附近特殊物质致密聚集体的临床意义？羊水？污泥？ - 在早产且胎膜完整的患者中经常观察到的超声检查结果。羊水“淤泥”的流行情况在 84 名胎膜完整的早产患者和 298 名无并发症的足月妊娠患者中进行了测定。微生物侵入羊膜腔 (MIAC) 的频率、组织学绒毛膜羊膜炎、检查至分娩间隔、入住新生儿重症监护病房 (NICU)、综合新生儿发病率、围产期死亡和 48 小时、7 天内分娩，比较两组之间<35周和<32周的情况。在无并发症的足月妊娠患者中，羊水“淤泥”的发生率为 1% (3/298)，在早产且胎膜完整的患者中，羊水“淤泥”的发生率为 22.6% (19/84)。羊水“淤泥”的患者自然早产率较高。病人有羊水？淤泥？羊水培养阳性率较高 [33.3% (6/18) vs. 2.5% (1/40)，P = 0.003] 和组织学绒毛膜羊膜炎 [77.8% (14/18) vs. 19% (11/58) ），P < 0.001]，此外，他们的新生儿被送入 NICU [64.3% (9/14) vs. 12.9% (8/62), P < 0.01] 或比无羊水的患者死亡频率更高 [36.8% (7/19) vs. 4.6% (3/65), P = 0.001] '污泥'。