Noninvasive prenatal diagnosis for pregnancies at risk for beta-thalassaemia: a retrospective study

Lv W.; Linpeng S.; Li Z.; Liang D.; Jia Z.; Meng D.; Cram D. S.; Zhu H.; Teng Y.; Yin A.; Wu L.

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Noninvasive prenatal diagnosis for pregnancies at risk for beta-thalassaemia: a retrospective study

机译：β-地中海贫血风险衰退的非侵袭产前诊断：回顾性研究

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Objective To evaluate the clinical feasibility of noninvasive prenatal diagnosis (NIPD) for beta-thalassaemia using circulating single molecule amplification and re-sequencing technology (cSMART).

机译：目的探讨使用循环单分子扩增和重新测序技术（CSMART）对β-地中海贫血的非侵入性产前诊断（NIPD）的临床可行性。

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来源
《BJOG: an international journal of obstetrics and gynaecology》 |2021年第2期|共10页
作者
Lv W.; Linpeng S.; Li Z.; Liang D.; Jia Z.; Meng D.; Cram D. S.; Zhu H.; Teng Y.; Yin A.; Wu L.;
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作者单位

Cent South Univ Ctr Med Genet Sch Life Sci Changsha Hunan Peoples R China;

Cent South Univ Ctr Med Genet Sch Life Sci Changsha Hunan Peoples R China;

Cent South Univ Ctr Med Genet Sch Life Sci Changsha Hunan Peoples R China;

Cent South Univ Ctr Med Genet Sch Life Sci Changsha Hunan Peoples R China;

Hunan Prov Maternal &

Child Hlth Care Hosp Prenatal Diag Ctr Hunan Prov Changsha Hunan Peoples;

Maternal &

Child Hlth Hosp Guangxi Zhuang Autonom Nanning Guangxi Zhuang Peoples R China;

Berry Genom Corp Beijing Peoples R China;

Cent South Univ Ctr Med Genet Sch Life Sci Changsha Hunan Peoples R China;

Hunan Jiahui Genet Hosp Changsha Hunan Peoples R China;

Guangdong Women &

Children Hosp Prenatal Diag Ctr Guangzhou Guangdong Peoples R China;

Cent South Univ Ctr Med Genet Sch Life Sci Changsha Hunan Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类妇产科学;
关键词
Circulating single molecule amplification and re-sequencing technology; fetal genotyping; HBB gene; invasive prenatal diagnosis; noninvasive prenatal diagnosis; beta-thalassaemia;

机译：循环单分子扩增和重新排序技术;胎儿基因分型;HBB基因;侵入性产前诊断;非侵入性产前诊断;β-地中海贫血;

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1. Positive Rate of Noninvasive Prenatal Screening for Pregnancies with Fetal Congenital Heart Disease and Its Impact on Pregnancy Outcome [J] . Yun Chen, Yun-Li Lai, Yi-Ping Shen, 母胎医学杂志（英文） . 2020,第002期
2. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women [J] . ZHANG Lin, ZHANG Xiao-hong, LIANG Mei-ying, 中华医学杂志：英文版 . 2010,第004期
3. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women [J] . ZHANG Lin, ZHANG Xiao-hong, LIANG Mei-ying, 中华医学杂志（英文版） . 2010,第004期
4. Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment. [J] . Kolialexi A, Vrettou C, Traeger-Synodinos J, Prenatal Diagnosis . 2007,第13期

机译：使用富集后从母体血液中分离出的单个胎儿成血红细胞，无创性产前诊断β地中海贫血。
5. Indications and pregnancy outcomes when multidisciplinary centers for prenatal diagnosis refuse request for termination of pregnancy: A retrospective French study [J] . NguyenM.L., RomanH., DommerguesM., Prenatal Diagnosis . 2013,第5期

机译：一项回顾性法国研究显示，当产前诊断多学科中心拒绝终止妊娠时，适应症和妊娠结局
6. Indications and pregnancy outcomes when multidisciplinary centers for prenatal diagnosis refuse request for termination of pregnancy: a retrospective French study [J] . M. L. Nguyen, H. Roman, M. Dommergues, Prenatal Diagnosis . 2013,第Null期

机译：当多学科诊断拒绝终止怀孕请求时的指示和怀孕结果：备注法国研究
7. A Walk-through of Expert Systems for Diagnosis of High Risk Pregnancy: A Retrospective [C] . Deepanshi, Jyoti Pruthi International Conference on Computing for Sustainable Global Development . 2019

机译：高风险妊娠诊断专家系统演练：回顾
8. Noninvasive Prenatal Diagnosis by Targeted Massively Parallel Sequencing of Maternal Plasma. [D] . Liao, Jiawei. 2013

机译：母体血浆靶向大规模并行测序的非侵入性产前诊断。
9. Risks of Adverse Neonatal Outcomes in Early Adolescent Pregnancy Using Group Prenatal Care as a Strategy for Public Health Policies: A Retrospective Cohort Study in Brazil [O] . Danylo José Palma Honorato, Izabela Fulone, Marcus Tolentino Silva, 2021

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10. Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [O] . Reitter Anke, Stücker Anja-Undine, Buxmann Horst, 2013

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11. An Intercomparison of Nuclear Medicine, Ultrasonography, and Computed Tomography in the Diagnosis of Liver Disease: A Retrospective Study [R] . Siegel, J. A. , Evans, C. D. , McIntyre, A. B. 1981

机译：核医学，超声检查和计算机断层扫描在肝病诊断中的比较：回顾性研究

Noninvasive prenatal diagnosis for pregnancies at risk for beta-thalassaemia: a retrospective study

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