An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21

scientific article published on 12 April 2019

An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21 is …
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scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PONE.0215368
P932PMC publication ID6461288
P698PubMed publication ID30978256

P50authorXiaohan SunQ93055987
P2093author name stringXu Ma
Jianbo Lu
P2860cites workMaternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the FetusQ56937251
Presence of fetal DNA in maternal plasma and serumQ57075132
The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18Q58133789
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester populationQ61847837
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingQ83395075
Cell-free DNA Analysis for Noninvasive Examination of TrisomyQ86964278
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencingQ28742844
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyQ30414408
Quantification of Fetal DNA by Use of Methylation-Based DNA DiscriminationQ30987480
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasmaQ33360224
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasmaQ33682367
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Clinical practice. Prenatal screening for aneuploidyQ34986134
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafnessQ35168913
Digital PCR for the molecular detection of fetal chromosomal aneuploidyQ35916813
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasmaQ37000915
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaQ37010246
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.Q37514951
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.Q39967854
Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic diseaseQ39993125
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.Q40028555
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.Q40057027
Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.Q41475376
Patterns of first-year survival among infants with selected congenital anomalies in Texas, 1995-1997.Q41923297
Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene DiseasesQ45862706
Population-based analyses of mortality in trisomy 13 and trisomy 18.Q47998846
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue4
P407language of work or nameEnglishQ1860
P304page(s)e0215368
P577publication date2019-04-12
P1433published inPLOS OneQ564954
P1476titleAn efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21
P478volume14

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