Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders

被引：0
作者：
Wenman Wu
Xuanyou Zhou
Zhengwen Jiang
Dazhi Zhang
Feng Yu
Lanlan Zhang
Xuefeng Wang
Songchang Chen
Chenming Xu
机构：
[1] Shanghai Jiaotong University School of Medicine,Department of Laboratory Medicine, Ruijin Hospital
[2] Fudan University,Obstetrics and Gynecology Hospital, Institute of Reproduction and Development
[3] Genesky Diagnostics (Suzhou) Inc.,International Peace Maternity and Child Health Hospital, School of Medicine
[4] Shanghai Jiao Tong University,Collaborative Innovation Center of Hematology
[5] Shanghai Key Laboratory of Embryo Original Disorders,Research Units of Embryo Original Diseases
[6] Shanghai Jiaotong University School of Medicine,undefined
[7] Shanghai Academy of Experimental Medicine,undefined
[8] Chinese Academy of Medical Sciences (No. 2019RU056),undefined
来源：
Human Genomics | / 16卷
关键词：
Cell-free DNA; Fetal genotyping; Prenatal diagnosis; Massively parallel sequencing; Monogenic disorder;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 183 条
[1]  
Tabor A(1986)Randomised controlled trial of genetic amniocentesis in 4606 low-risk women Lancet 1 1287-1293
[2]  
Philip J(2010)Update on procedure-related risks for prenatal diagnosis techniques Fetal Diagn Ther 27 1-7
[3]  
Madsen M(2006)Risk factors for procedure-related fetal losses after mid-trimester genetic amniocentesis Prenat Diagn 26 925-930
[4]  
Bang J(1997)Presence of fetal DNA in maternal plasma and serum Lancet 350 485-487
[5]  
Obel EB(2019)Validation studies for single circulating trophoblast genetic testing as a form of noninvasive prenatal diagnosis Am J Hum Genet 105 1262-1273
[6]  
Nørgaard-Pedersen B(2008)Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma Clin Chem 54 1664-1672
[7]  
Tabor A(2010)Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus Sci Transl Med 2 61ra91-775
[8]  
Alfirevic Z(2019)The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: a budget impact analysis PLoS ONE 14 e0218166-327
[9]  
Kong CW(1998)Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis Am J Hum Genet 62 768-20463
[10]  
Leung TN(2020)Non-invasive prenatal diagnosis and screening for monogenic disorders Eur J Obstet Gynecol Reprod Biol 253 320-1475
12345678910