Prenatal Diagnosis Of Congenital Anomalies

先天性异常的产前诊断

基本信息

项目摘要

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'.
在美国,先天性畸形是仅次于早产的围产期死亡的第二大原因。成像技术的进步使得超声能够在子宫内检测许多解剖缺陷。该项目的目标是改进胎儿疾病和先天性异常的诊断和治疗。围产期研究分支已启动了一系列项目,以改进先天性异常的检测,并利用三维超声评估胎儿的生长和发育。由于先天性心脏病是先天性畸形胎儿死亡的主要原因,因此在开发技术以改进先天性心脏病的产前诊断方面投入了大量努力。今年的调查结果包括: 1.使用四维超声进行大血管和静脉回流至心脏的数字模型:围产期研究分支的研究者描述了一种使用四维超声与时空图像相关(STIC)和反转模式或B流成像重建大血管和静脉回流至心脏的技术。四维重建的心血管结构,使用这些技术允许可视化?数字演员类似于在死后检查中可以获得的心血管系统的硅橡胶模型。可以清楚地观察流出道之间的空间关系,大动脉与心室腔之间的连接,以及静脉系统与心房腔之间的连接。该技术可用于诊断主动脉缩窄、大动脉转位、右室双出口、肺动脉瓣狭窄、肺动脉闭锁和下腔静脉中断伴奇静脉或半奇静脉延续。除了改善流出道和静脉回流到心脏的可视化外,与二维超声相比,将反转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。倒置模式的三维超声还用于重建充满液体的结构,如胃、脑室系统以及尿路梗阻病例中扩张的输尿管和肾盂。 2.使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软组织参数,可通过三维超声进行评估-臂体积分数(AVol)-用于胎儿生长的纵向评估。基于Rossavik模型,使用AVol、中臂围(ArmC)和肱骨骨干长度(HDL)制定了个体化生长标准。通过二维和三维超声对22例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晚期妊娠轨迹。Rossavik函数非常好地拟合了所有参数轨迹(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分别为-0.1% +/-2.9%,0.5% +/-4.6%和0.4% +/-8.5%。该研究表明,可以通过测量胎儿手臂的体积来进行个体化的生长评估,并且可以准确地预测孕晚期胎儿手臂的生长。AVol可以早期检测和改善对生长障碍胎儿软组织异常的监测。 3.羊水“污泥”在胎膜完整的早产患者中的患病率和临床意义:分支研究了宫颈管附近特殊物质密集聚集的临床意义。羊水?污泥?- 这是一种在早产和胎膜完整的患者中经常观察到的超声发现。羊水的普遍性?污泥?在84例胎膜完整的早产患者和298例足月无并发症的妊娠患者中测定。比较两组间羊膜腔微生物侵袭(MIAC)、组织学绒毛膜炎、检查至分娩间隔、新生儿重症监护室(NICU)入院、新生儿综合发病率、围产儿死亡率、48 h内、7 d内、< 35周和< 32周内分娩的发生率。羊水“污泥”的发生率在无并发症的足月妊娠患者中为1%(3/298),在胎膜完整的早产患者中为22.6%(19/84)。羊水中有“污泥”的患者自发性早产率较高。有羊水的病人?污泥?羊水培养阳性[33.3%(6/18)vs. 2.5%(1/40),P = 0.003]和组织学绒毛膜炎[77.8%(14/18)vs. 19%(11/58),P < 0.001]的发生率更高,此外,新生儿入NICU率(64.3%(9/14)vs12.9%(8/62),P < 0.01)或死亡率(36.8%(7/19)vs4.6%(3/65),P = 0.001)高于无羊水“污泥”者。

项目成果

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ROBERTO ROMERO其他文献

ROBERTO ROMERO的其他文献

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{{ truncateString('ROBERTO ROMERO', 18)}}的其他基金

CANDIDATE GENE ANALYSIS OF ADVERSE OBSTETRICAL OUTCOMES
不良产科结局的候选基因分析
  • 批准号:
    7420626
  • 财政年份:
    2006
  • 资助金额:
    --
  • 项目类别:
CANDIDATE GENE ANALYSIS OF ADVERSE OBSTETRICAL OUTCOMES
不良产科结局的候选基因分析
  • 批准号:
    7181280
  • 财政年份:
    2005
  • 资助金额:
    --
  • 项目类别:
PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES
先天性异常的产前诊断
  • 批准号:
    6108124
  • 财政年份:
  • 资助金额:
    --
  • 项目类别:
The Role Of Subclinical Infection And Cytokines In Preterm Parturition
亚临床感染和细胞因子在早产中的作用
  • 批准号:
    8941476
  • 财政年份:
  • 资助金额:
    --
  • 项目类别:
Subclinical Infection & Cytokines In Preterm Parturition
亚临床感染
  • 批准号:
    6834310
  • 财政年份:
  • 资助金额:
    --
  • 项目类别:
Prenatal Diagnosis Of Congenital Anomalies
先天性异常的产前诊断
  • 批准号:
    6992996
  • 财政年份:
  • 资助金额:
    --
  • 项目类别:
PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES
先天性异常的产前诊断
  • 批准号:
    6432591
  • 财政年份:
  • 资助金额:
    --
  • 项目类别:
The Role Of Subclinical Infection And Cytokines In Preterm Parturition
亚临床感染和细胞因子在早产中的作用
  • 批准号:
    7968617
  • 财政年份:
  • 资助金额:
    --
  • 项目类别:
The Role Of Subclinical Infection And Cytokines In Prete
亚临床感染和细胞因子在 Prete 中的作用
  • 批准号:
    7334071
  • 财政年份:
  • 资助金额:
    --
  • 项目类别:
The Role Of Subclinical Infection And Cytokines In Preterm Parturition
亚临床感染和细胞因子在早产中的作用
  • 批准号:
    8351155
  • 财政年份:
  • 资助金额:
    --
  • 项目类别:

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Comprehensive and non-invasive prenatal screening of coding variation
全面、无创的编码变异产前筛查
  • 批准号:
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  • 财政年份:
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    2022
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CNS-Derived Fetal Extracellular Vesicles for the Non-Invasive Diagnosis of Fetal CNS CMV Infection
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ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth
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CNS-Derived Fetal Extracellular Vesicles for the Non-Invasive Diagnosis of Fetal CNS CMV Infection
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  • 批准号:
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  • 财政年份:
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ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth
ClinGen 严重结构异常和死产专家管理小组
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