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Noninvasive prenatal detection of hemoglobin Bart hydrops fetalis via maternal plasma dispensed with parental haplotyping using the semiconductor sequencing platform.

使用半导体测序平台,通过父母单倍分型分配的母体血浆无创产前检测血红蛋白Bart水肿胎儿。

  • 影响因子:4.22
  • DOI:10.1016/j.ajog.2019.07.044
  • 作者列表:"Yang J","Peng CF","Qi Y","Rao XQ","Guo F","Hou Y","He W","Wu J","Chen YY","Zhao X","Wang YN","Peng H","Wang D","Du L","Luo MY","Huang QF","Liu HL","Yin A
  • 发表时间:2020-02-01
Abstract

BACKGROUND:Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE:In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN:In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS:As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION:Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.

摘要

背景: 地中海贫血是我国南方和东南亚地区最常见的单基因遗传病之一。血红蛋白Bart's hydrops fetalis综合征是由HBA基因纯合东南亚缺失 (-/-) 引起的。很少有研究证明使用胎儿无细胞DNA筛查巴特水肿胎儿的潜力。然而,病例数量仍然相对较少。需要大样本的临床试验。 目的: 在这项研究中,我们旨在开发一种非侵入性的方法,通过使用无细胞胎儿DNA的贝叶斯方法进行目标捕获测序和基因分型,以确定有血红蛋白Bart风险的孕妇的胎儿基因型。一项大规模研究中的胎儿水肿。 研究设计: 本研究共招募了来自 30 家医院的 192,173 对夫妇,招募了 878 对夫妇,其中孕妇和丈夫均为东南亚型 (-/α α) α-地中海贫血携带者。以gap-聚合酶链反应为金标准,通过绒毛取样、羊膜腔穿刺或脐静脉穿刺进行产前诊断。 结果: 结果,我们发现我们的无创方法在训练集中的灵敏度和特异性分别为 98.81% 和 94.72%,分别为 100% 和 99.31%,在测试集中。此外,我们的方法可以鉴定所有 885 例东南亚携带的母体样本和 36 例T 1 3 、T 1 8 灵敏度为 1 00% 的三体样本,T 1 8 和T2 1 的特异性分别为T2 1 和 99.89% (9 1 7 中的 1) 和 99.88% (888 中的 1)。 结论: 我们的方法开启了早期筛查母体 α-地中海贫血基因分型的可能性,染色体 1 3/1 的胎儿非整倍体 8/2 1,并在 1 管母体血浆中检测血红蛋白Bart积水胎儿。

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影响因子:4.22
发表时间:2020-02-01
DOI:10.1016/j.ajog.2019.07.044
作者列表:["Yang J","Peng CF","Qi Y","Rao XQ","Guo F","Hou Y","He W","Wu J","Chen YY","Zhao X","Wang YN","Peng H","Wang D","Du L","Luo MY","Huang QF","Liu HL","Yin A"]

METHODS:BACKGROUND:Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE:In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN:In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS:As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION:Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.

影响因子:1.74
发表时间:2020-02-01
DOI:10.1177/1049909119868657
作者列表:["Suarez ML","Schlaeger JM","Angulo V","Shuey DA","Carrasco J","Roach KL","Ezenwa MO","Yao Y","Wang ZJ","Molokie RE","Wilkie DJ"]

METHODS:OBJECTIVES:Sickle cell disease (SCD) is a serious illness with disabling acute and chronic pain that needs better therapies, but insufficient patient participation in research is a major impediment to advancing SCD pain management. The purpose of this article is to discuss the challenges of conducting an SCD study and approaches to successfully overcoming those challenges. DESIGN:In a repeated-measures, longitudinal study designed to characterize SCD pain phenotypes, we recruited 311 adults of African ancestry. Adults with SCD completed 4 study visits 6 months apart, and age- and gender-matched healthy controls completed 1 visit. RESULTS:We recruited and completed measures on 186 patients with SCD and 125 healthy controls. We retained 151 patients with SCD with data at 4 time points over 18 months and 125 healthy controls (1 time point) but encountered many challenges in recruitment and study visit completion. Enrollment delays often arose from patients' difficulty in taking time from their complicated lives and frequent pain episodes. Once scheduled, participants with SCD cancelled 49% of visits often because of pain; controls canceled 30% of their scheduled visits. To facilitate recruitment and retention, we implemented a number of strategies that were invaluable in our success. CONCLUSION:Patients' struggles with illness, chronic pain, and their life situations resulted in many challenges to recruitment and completion of study visits. Important to overcoming challenges was gaining the trust of patients with SCD and a participant-centered approach. Early identification of potential problems allowed strategies to be instituted proactively, leading to success.

影响因子:2.13
发表时间:2020-01-01
DOI:10.1093/ajcp/aqz108
作者列表:["Mukherjee MB","Colah RB","Mehta PR","Shinde N","Jain D","Desai S","Dave K","Italia Y","Raicha B","Serrao E"]

METHODS:OBJECTIVES:Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. METHODS:The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. RESULTS:A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. CONCLUSIONS:We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.

翻译标题与摘要 下载文献
血红蛋白病方向

由于血红蛋白分子结构异常(异常血红蛋白病),或珠蛋白肽链合成速率异常(珠蛋白生成障碍性贫血,又称海洋性贫血)所引起的一组遗传性血液病。

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