无创DNA产前检测技术的临床应用研究进展(4)
[18]Chiu RWK， Lau TK， Cheung PT， et al. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasmaanalysis： a feasibility study. Clin Chem 2002;48(5)：778e80.
[19]EMAD A，LAMOUREUX J，OUELLET A，et al. Rapid aneuploidy detection of chromosomes 13，18，21，X and Y using quantitative fluorescent polymerase chain reaction with few microdissected fetal cells[J]. Fetal Diagn Ther，2015，38( 1) ： 65.
[20]Lun FMF， Tsui NBY， Chan KCA， et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection andrelative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci U S A2008;105(50)：19920e5.
[21]Snyder MW， Adey A， Kitzman JO， Shendure J. Haplotype-resolved genome sequencing： experimental methods andapplications. Nat Rev Genet 2015;16(6)：344e58.
[22]Benn P， Cuckle H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting ofcell-free DNA fragments in maternal plasma. Prenat Diagn 2014;34(8)：778e83.
[23]Snyder MW， Simmons LE， Kitzman JO， et al. Copy-number variation and false positive prenatal aneuploidy screeningresults. N Engl J Med 2015;372(17)：1639e45.
[24]Osborne CM， Hardisty E， Devers P， et al. Discordant noninvasive prenatal testing results in a patient subsequentlydiagnosed with metastatic disease. Prenat Diagn 2013;33(6)：609e11.
[25]Bianchi DW， Chudova D， Sehnert AJ， et al. Noninvasive prenatal testing and incidental detection of occult maternalmalignancies. JAMA 2015;314(2)：162e9., 百拇医药(陈咏梅 王青云)
[19]EMAD A，LAMOUREUX J，OUELLET A，et al. Rapid aneuploidy detection of chromosomes 13，18，21，X and Y using quantitative fluorescent polymerase chain reaction with few microdissected fetal cells[J]. Fetal Diagn Ther，2015，38( 1) ： 65.
[20]Lun FMF， Tsui NBY， Chan KCA， et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection andrelative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci U S A2008;105(50)：19920e5.
[21]Snyder MW， Adey A， Kitzman JO， Shendure J. Haplotype-resolved genome sequencing： experimental methods andapplications. Nat Rev Genet 2015;16(6)：344e58.
[22]Benn P， Cuckle H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting ofcell-free DNA fragments in maternal plasma. Prenat Diagn 2014;34(8)：778e83.
[23]Snyder MW， Simmons LE， Kitzman JO， et al. Copy-number variation and false positive prenatal aneuploidy screeningresults. N Engl J Med 2015;372(17)：1639e45.
[24]Osborne CM， Hardisty E， Devers P， et al. Discordant noninvasive prenatal testing results in a patient subsequentlydiagnosed with metastatic disease. Prenat Diagn 2013;33(6)：609e11.
[25]Bianchi DW， Chudova D， Sehnert AJ， et al. Noninvasive prenatal testing and incidental detection of occult maternalmalignancies. JAMA 2015;314(2)：162e9., 百拇医药(陈咏梅 王青云)