Search Results - "Qi, Qingwei"

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting by Li, Mengmeng, Hao, Na, Jiang, Yulin, Xue, Huili, Dai, Yifang, Wang, Mingming, Bai, Junjie, Lv, Yan, Qi, Qingwei, Zhou, Xiya

“…Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy…”
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High levels of circulating cell‐free DNA are a biomarker of active SLE by Xu, Yalan, Song, Yijun, Chang, Jiazhen, Zhou, Xiya, Qi, Qingwei, Tian, Xinping, Li, Mengtao, Zeng, Xiaofeng, Xu, Mengnan, Zhang, Wenjuan, Cram, David S, Liu, Juntao

“…Background High levels of circulating cell‐free DNA (cfDNA) have been reported in patients with inflammatory conditions. The aim of the study was to…”
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Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies by Chen, Xinlin, Jiang, Yulin, Chen, Ruiguo, Qi, Qingwei, Zhang, Xiujuan, Zhao, Sheng, Liu, Chaoshi, Wang, Weiyun, Li, Yuezhen, Sun, Guoqiang, Song, Jieping, Huang, Hui, Cheng, Chen, Zhang, Jianguang, Cheng, Longxian, Liu, Juntao

“…Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for…”
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Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review by Yang, Xueting, Li, Mengmeng, Qi, Qingwei, Zhou, Xiya, Hao, Na, Lü, Yan, Jiang, Yulin

“…Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are two imprinting disorders characterized by the absence or reduced expression of maternal or paternal…”
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Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies by Hao, Na, Lou, Haijuan, Li, Mengmeng, Zhang, Hanzhe, Chang, Jiazhen, Qi, Qingwei, Zhou, Xiya, Bai, Junjie, Guo, Jiangshan, Wang, Yaru, Zhang, Yanli, Jiang, Yulin

“…Complex chromosomal rearrangements (CCRs) can result in spontaneous abortions, infertility, and malformations in newborns. In this study, we explored a…”
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Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review by Lü, Yan, Jiang, Yulin, Wu, Huanwen, Qi, Qingwei, Zhou, Xiya, Guo, Qi, Hao, Na, Liu, Juntao, Meng, Hua

“…Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very…”
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Contribution of maternal copy number variations to false‐positive fetal trisomies detected by noninvasive prenatal testing by Zhou, Xiya, Sui, Lili, Xu, Yalan, Song, Yijun, Qi, Qingwei, Zhang, Jianguang, Zhu, Hongmin, Sun, Huaiyu, Tian, Feng, Xu, Mengnan, Cram, David S., Liu, Juntao

“…Objective The aim of the study was to determine the contribution and significance of maternal copy number variations (CNVs) to false‐positive noninvasive…”
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A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples by Zhou, Xiya, Chen, Xiangbin, Jiang, Yulin, Qi, Qingwei, Hao, Na, Liu, Chengkun, Xu, Mengnan, Cram, David S, Liu, Juntao

“…Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we…”
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Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report by Lü, Yan, Jiang, Yulin, Zhou, Xiya, Hao, Na, Xu, Chenlu, Guo, Ruidong, Chang, Jiazhen, Li, Mengmeng, Zhang, Hanzhe, Zhou, Jing, Zhang, Wei (Victor), Qi, Qingwei

“…Objective: Mosaicism is a common biological phenomenon in organisms and has been reported in many types of chromosome abnormalities, including the absence of…”
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Ex utero intrapartum therapy in infants with congenital diaphragmatic hernia: a propensity score matching analysis by Zhao, Yunlong, Wang, Ying, Liu, Chao, Jiang, Yulin, Wei, Yandong, Meng, Hua, Jian, Shan, Zhu, Xiting, Pei, Lijian, Bai, Xiaochen, Feng, Feng, Lv, Yan, Zhou, Xiya, Qi, Qingwei, Li, Jingna, Ma, Lishuang

“…ObjectivePrevious studies have shown that ex utero intrapartum therapy (EXIT) is safe and feasible for newborns with congenital diaphragmatic hernia (CDH)…”
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Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis by Lü, Yan, Jiang, Yulin, Zhou, Xiya, Hao, Na, Lü, Guizhen, Guo, Xiangxue, Guo, Ruidong, Liu, Wenjie, Xu, Chenlu, Chang, Jiazhen, Li, Mengmeng, Zhang, Hanzhe, Zhou, Jing, Zhang, Wei Victor, Qi, Qingwei

“…Absence of homozygosity (AOH) is a genetic characteristic known to cause human diseases mainly through autosomal recessive or imprinting mechanisms. The…”
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eP458: Prenatal genetic diagnosis of fetal ultrasound anomalies by exome sequencing: A Chinese multi-center prospective cohort by Lyu, Yan, Jiang, Yulin, Qi, Qingwei, Zhou, Xiya, Guo, Qi, Hao, Na, Liu, Juntao

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Trisomy 22 with long spina bifida occulta: A case report by Ma, Li, Ouyang, Yunshu, Qi, Qingwei, Hao, Na, Zhao, Dachun, Jiang, Yuxin, Meng, Hua

“…Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings…”
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Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes by Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao

“…The routine assessment to determine the genetic etiology for fetal ultrasound anomalies follows a sequential approach, which usually takes about 6-8 weeks…”
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Quantitation of fetal DNA fraction in maternal plasma using circulating single molecule amplification and re-sequencing technology (cSMART) by Song, Yijun, Zhou, Xiya, Huang, Saiqiong, Li, Xiaohong, Qi, Qingwei, Jiang, Yulin, Liu, Yiqian, Ma, Chengcheng, Li, Zhifeng, Xu, Mengnan, Cram, David S, Liu, Juntao

“…Calculation of the fetal DNA fraction (FF) is important for reliable and accurate noninvasive prenatal testing (NIPT) for fetal genetic abnormalities. The aim…”
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eP483 - Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes by Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao

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Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes by Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao

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Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT by Chang, Jiazhen, Song, Yingna, Qi, Qingwei, Hao, Na, Liu, Juntao

“…To validate a fetus with high risk for trisomy 13 suggested by non-invasive prenatal testing (NIPT). The fetus was selected as the study subject after the NIPT…”
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Copy number variation sequencing-based prenatal diagnosis using cell-free fetal DNA in amniotic fluid by Qi, Qingwei, Lu, Sijia, Zhou, Xiya, Yao, Fengxia, Hao, Na, Yin, Guangjun, Li, Wenhui, Bai, Junjie, Li, Ning, Cram, David S.

“…Objective The study aimed to determine whether cell‐free fetal DNA (cffDNA) present in amniotic fluid supernatant can be used as a surrogate for…”
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Evaluation and Analysis of Absence of Homozygosity in Prenatal Diagnosis by Lü, Yan, Jiang, Yulin, Zhou, Xiya, Hao, Na, Lü, Guizhen, Guo, Xiangxue, Guo, Ruidong, Liu, Wenjie, Xu, Chenlu, Chang, Jiazhen, Li, Mengmeng, Zhang, Hanzhe, Zhou, Jing, Zhang, Wei (Victor), Qi, Qingwei

“…Objective: Absence of homozygosity (AOH) is a genetic characteristic known to cause human diseases mainly through autosomal recessive or imprinting mechanisms…”
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