Prenatal Diagnosis Of Congenital Anomalies

先天性异常的产前诊断

• 批准号: 10915314
• 负责人: ROBERTO ROMERO
• 金额: $ 56.22万
• 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/10915314
• 关键词: 3-Dimensional; Abdomen; Address; Adult; Anatomy; Area; Arteries; Biological Markers; Biometry; Breathing; Cardiac; Cardiac Volume; Child Care; Chorionic villi; Congenital Abnormality; Cross-Sectional Studies; Data Set; Dependence; Detection; Diagnosis; Discipline of obstetrics; Disease; Doppler velocimetry; Echocardiography; Endothelium; Exclusion; Fetal Growth; Fetal Growth Retardation; Fetal Heart; Fetal Reduction; Fetus; Gestational Age; Glycocalyx; Growth; Growth Disorders; Heart Abnormalities; Hospital Costs; Hour; Human; Image; Imaging Techniques; Immunoassay; Intelligence; Magnetic Resonance Imaging; Manuals; Maternal-fetal medicine; Methods; Modality; Mothers; Neurocognitive; Observational Study; Operative Surgical Procedures; Optical Methods; Outcome; Participant; Pathologic; Performance; Perinatal mortality demographics; Physiological; Placenta; Placental Insufficiency; Plasma; Pregnancy; Pregnancy Complications; Pregnant Women; Prenatal Diagnosis; ROC Curve; Risk; Risk Factors; Sleep; Small for Gestational Age Infant; Structure of umbilical artery; Syncytiotrophoblast; Testing; Time; Training; Ultrasonography; Umbilicus; Uterus; Venipunctures; Woman; Women' s Group; body system; comparison control; congenital anomaly; congenital heart disorder; fetal; heart function; heart imaging; imaging modality; improved; infant morbidity; infant morbidity/mortality; instrument; neonate; novel; obstetrical syndromes; perinatal morbidity; prenatal; prospective; screening; success; syndecan; two-dimensional; ultrasound; virtual

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.

A.胎儿智能导航对胎儿心脏超声检查优于人工导航的上级效果 先天性心脏病（CHD）是最常见的出生缺陷，也是与出生缺陷相关的婴儿发病和死亡的主要原因。2013年，用于治疗CHD儿童的医院费用超过60亿美元。所有孕妇都应进行产前超声筛查，以检查心脏缺陷，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，产前诊断特定的心脏畸形，提高手术后的生存率，长期的神经认知功能和结果。产前超声对先天性心脏病的总体检出率仍不理想。为了解决这些问题，PRB成功开发了一种称为胎儿智能导航超声心动图（FINE）的新方法，以询问胎儿超声心动图心脏容积数据集。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视图。FINE方法简化了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，以比较人工和智能导航（FINE）的胎儿心脏的非专业超声医师的性能。这项前瞻性观察性研究包括10名接受过两种导航方法正式培训的超声医师。随后，我们测试了参与者的能力，以获得九个心脏视图从五个STIC卷正常胎儿心脏（1928孕周）使用这种方法。确定两种方法的以下参数：1）获得9个心脏视图的成功率; 2）每位超声医师获得9个心脏视图的平均时间; 3）每个STIC容积成功获得的心脏视图的最大数量。 所有胎儿心脏图像均从100个STIC体积（每种导航方法50个）中获得，并由胎儿超声心动图专家进行审查。与手动导航相比，FINE具有：1）更高的成功率，（不包括腹部视图）适当的心脏视图（92100% vs. 5688%;所有p<0.05）; 2）平均时间更短（分：秒）获得9个心脏视图（2：11 0：37 vs. 15：49 7：44; p<0.0001）; 3）对于给定的STIC体积，获得所有9个心脏视图的成功率更高（86% vs. 14%; p<0.001）。 我们得出结论，当由非专业超声医师执行时，智能导航（FINE）的性能上级胎儿心脏的手动导航。具体而言，FINE在92%-100%的病例中获得了适当的胎儿心脏视图。 B。Syndecan-1：胎儿生长受限的生物标志物 胎儿生长障碍的鉴定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）的一部分婴儿生长受限，这通常归因于胎盘功能不全。Syndecan-1是内皮糖萼降解的产物，已被提议作为不同病理条件下内皮损伤的生物标志物。在妊娠期间，有一种特殊形式的糖萼，合胞体滋养层糖萼覆盖在胎盘绒毛上。 我们进行了一项研究，以确定母体血浆syndecan-1浓度是否可以用作胎儿生长受限的生物标志物。进行了一项横断面研究，包括正常妊娠妇女（n=130）和分娩SGA新生儿的孕妇（n=50）。在诊断时，对患有SGA胎儿的妇女进行子宫动脉和脐动脉多普勒血流速度测定。静脉穿刺内进行多普勒测速仪和syndecan-1的血浆浓度测定的特异性和敏感的免疫测定法。 结果显示，妊娠合并SGA胎儿的母亲的syndecan-1的平均血浆浓度显著低于妊娠适合胎龄胎儿的母亲（p=0.005）。这种差异归因于胎儿生长受限，因为与对照组相比，仅在具有异常脐动脉和子宫动脉多普勒测速的SGA胎儿的妇女组中，平均血浆syndecan-1浓度显著较低（p=0.00071;校正p=0.0028）。在患有SGA胎儿的妇女中，脐动脉和子宫动脉多普勒检查异常的妇女的平均血浆syndecan-1浓度显著较低（p=0.02;校正p=0.04）。血浆多配体蛋白聚糖-1浓度< 850 ng/mL对于鉴别具有异常脐动脉多普勒测速的SGA胎儿的母亲具有4.4的阳性似然比和0.24的阴性似然比（ROC曲线下面积0.83; p < 0.001）。本研究结果提示，血浆syndecan-1可作为胎儿生长受限的生物标志物。

项目成果

A new customized fetal growth standard for African American women: the PRB/NICHD Detroit study.

• DOI: 10.1016/j.ajog.2017.12.229
• 发表时间: 2018-03
• 期刊: American journal of obstetrics and gynecology
• 影响因子: 9.8
• 作者: Tarca AL;Romero R;Gudicha DW;Erez O;Hernandez-Andrade E;Yeo L;Bhatti G;Pacora P;Maymon E;Hassan SS
• 通讯作者: Hassan SS

Magnetic resonance diffusion-weighted imaging: reproducibility of regional apparent diffusion coefficients for the normal fetal brain.

• DOI: 10.1002/uog.11219
• 发表时间: 2013-02
• 期刊: ULTRASOUND IN OBSTETRICS & GYNECOLOGY
• 影响因子: 7.1
• 作者: Boyer, A. C.;Goncalves, L. F.;Lee, W.;Shetty, A.;Holman, A.;Yeo, L.;Romero, R.
• 通讯作者: Romero, R.

A soft cervix, categorized by shear-wave elastography, in women with short or with normal cervical length at 18-24 weeks is associated with a higher prevalence of spontaneous preterm delivery.

• DOI: 10.1515/jpm-2018-0062
• 发表时间: 2018-07-26
• 期刊: Journal of perinatal medicine
• 影响因子: 2.4
• 作者: Hernandez-Andrade E;Maymon E;Luewan S;Bhatti G;Mehrmohammadi M;Erez O;Pacora P;Done B;Hassan SS;Romero R
• 通讯作者: Romero R

Cardiac Measurements of Size and Shape in Fetuses With Absent or Reversed End-Diastolic Velocity of the Umbilical Artery and Perinatal Survival and Severe Growth Restriction Before 34 Weeks' Gestation.

• DOI: 10.1002/jum.15532
• 发表时间: 2021-08
• 期刊: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
• 作者: DeVore GR;Portella PP;Andrade EH;Yeo L;Romero R
• 通讯作者: Romero R

Evaluation of cervical stiffness during pregnancy using semiquantitative ultrasound elastography.

• DOI: 10.1002/uog.12344
• 发表时间: 2013-02
• 期刊: ULTRASOUND IN OBSTETRICS & GYNECOLOGY
• 影响因子: 7.1
• 作者: Hernandez-Andrade, E.;Hassan, S. S.;Ahn, H.;Korzeniewski, S. J.;Yeo, L.;Chaiworapongsa, T.;Romero, R.
• 通讯作者: Romero, R.