| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Peter Benn | |
| P2860 | cites work | Update on Procedure-Related Risks for Prenatal Diagnosis Techniques | Q22241937 |
| DNA Sequencing versus Standard Prenatal Aneuploidy Screening | Q22250872 | ||
| SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy | Q24627800 | ||
| Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci | Q24632266 | ||
| The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. | Q54708648 | ||
| Methods to Increase the Percentage of Free Fetal DNA Recovered From the Maternal Circulation | Q56001879 | ||
| Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus | Q56937251 | ||
| Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood | Q24657306 | ||
| Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal Plasma | Q28314918 | ||
| Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics | Q28752377 | ||
| DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study | Q30414408 | ||
| Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss | Q30745203 | ||
| Impact of prenatal technologies on the sex ratio in India: an overview | Q33737087 | ||
| Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles | Q33747312 | ||
| New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. | Q33755108 | ||
| Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia | Q33838551 | ||
| Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis | Q34028063 | ||
| DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study | Q34029044 | ||
| Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma | Q34042854 | ||
| Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort | Q34088575 | ||
| Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities | Q34149751 | ||
| Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. | Q34200702 | ||
| Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing | Q34256640 | ||
| Non-invasive prenatal measurement of the fetal genome | Q34286073 | ||
| From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges | Q34286705 | ||
| Relationships Between Cell-Free DNA and Serum Analytes in the First and Second Trimesters of Pregnancy | Q34287182 | ||
| Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses. | Q34326696 | ||
| Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma | Q34336915 | ||
| Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. | Q34340985 | ||
| Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement | Q34356065 | ||
| Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood | Q34378350 | ||
| Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. | Q34385131 | ||
| Rapid clearance of fetal DNA from maternal plasma | Q34388637 | ||
| Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study | Q34482155 | ||
| Noninvasive prenatal molecular karyotyping from maternal plasma | Q34683906 | ||
| Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia | Q34807426 | ||
| Noninvasive prenatal diagnosis of a fetal microdeletion syndrome | Q35020502 | ||
| Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing | Q35032051 | ||
| Noninvasive whole-genome sequencing of a human fetus. | Q36048523 | ||
| A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood | Q56986865 | ||
| Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
| Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing | Q57097369 | ||
| No evidence of fetal DNA persistence in maternal plasma after pregnancy | Q58008264 | ||
| Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service | Q58028956 | ||
| Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18 | Q61847821 | ||
| Fetal Fraction in Maternal Plasma Cell-Free DNA at 11–13 Weeks’ Gestation: Effect of Maternal and Fetal Factors | Q61847823 | ||
| Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population | Q61847837 | ||
| Cytogenetic results from the U.S. Collaborative Study on CVS | Q68042160 | ||
| Prenatal DNA diagnosis of a single-gene disorder from maternal plasma | Q73074402 | ||
| Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma | Q73406198 | ||
| Screening for triploidy by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation | Q73911772 | ||
| Detection of fetal RHD-specific sequences in maternal plasma | Q77429872 | ||
| Effect of labor on postpartum clearance of cell-free fetal DNA from the maternal circulation | Q80831966 | ||
| Placental volume measured by three-dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects | Q81816985 | ||
| Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting | Q83395075 | ||
| Non-invasive prenatal diagnosis of single-gene disorders from maternal blood | Q84073855 | ||
| Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X | Q84822908 | ||
| Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy | Q85495453 | ||
| Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population | Q86847268 | ||
| Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies | Q86983662 | ||
| European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing | Q86994177 | ||
| A new era in noninvasive prenatal testing | Q87109039 | ||
| Clinical utility and cost of non-invasive prenatal testing | Q87130415 | ||
| Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing | Q46816545 | ||
| Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis | Q46945516 | ||
| DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations | Q47764889 | ||
| Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. | Q50674465 | ||
| Prenatal technologies and the sex ratio. | Q50712409 | ||
| Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. | Q51140285 | ||
| Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. | Q51142138 | ||
| Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. | Q51163080 | ||
| Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. | Q51321305 | ||
| Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. | Q51349861 | ||
| Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. | Q51767524 | ||
| Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly. | Q51821173 | ||
| Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. | Q54266541 | ||
| Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis. | Q54313935 | ||
| First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. | Q54658860 | ||
| A multifactorial relationship exists between total circulating cell-free DNA levels and maternal BMI | Q36205202 | ||
| Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy | Q36406163 | ||
| The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy | Q36534423 | ||
| Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma | Q36595101 | ||
| Persistent gestational trophoblastic neoplasia after partial hydatidiform mole incidence and outcome. | Q36645842 | ||
| Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease | Q36970248 | ||
| Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma | Q37000915 | ||
| Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples | Q37004989 | ||
| Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma | Q37010246 | ||
| Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population | Q37089135 | ||
| RHD genotyping from maternal plasma: guidelines and technical challenges | Q37143239 | ||
| Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies | Q37164146 | ||
| Noninvasive prenatal diagnosis of monogenic disorders | Q38002933 | ||
| Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma | Q38087410 | ||
| The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made | Q38099617 | ||
| Non-invasive prenatal testing for aneuploidy: current status and future prospects | Q38114375 | ||
| Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant? | Q38149388 | ||
| Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population | Q38427300 | ||
| Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing | Q39316545 | ||
| Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia | Q40028010 | ||
| Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia. | Q40057027 | ||
| Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. | Q40157604 | ||
| Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis | Q40159346 | ||
| Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma | Q43257809 | ||
| Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. | Q43418239 | ||
| Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis | Q43872436 | ||
| First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing | Q43905798 | ||
| Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? | Q43943228 | ||
| NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy | Q44299715 | ||
| Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma | Q44554684 | ||
| Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease | Q44602113 | ||
| Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood | Q44645735 | ||
| First-trimester Down syndrome screening using additional serum markers with and without nuchal translucency and cell-free DNA. | Q44729421 | ||
| Still a screening test: more attention needed to noninvasive prenatal test false-positive rates | Q44861305 | ||
| A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing | Q45049473 | ||
| Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. | Q45288837 | ||
| Noninvasive prenatal testing for early sex identification: a few benefits and many concerns | Q45367931 | ||
| Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma | Q46170290 | ||
| Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies | Q46405224 | ||
| Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors | Q46446186 | ||
| Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint | Q46448014 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 537-65 | |
| P577 | publication date | 2014-05-21 | |
| P1433 | published in | Journal of Clinical Medicine | Q27724774 |
| P1476 | title | Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects | |
| P478 | volume | 3 |
| Q35686965 | An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population |
| Q36312158 | Comparative evaluation of the Minimally-Invasive Karyotyping (MINK) algorithm for non-invasive prenatal testing |
| Q50204931 | Detection of fetal duplication 16p11.2q12.1 by next-generation sequencing of maternal plasma and invasive diagnosis |
| Q47166239 | Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis |
| Q38931139 | Initial Management of Disorders of Sex Development in Newborns |
| Q34611496 | International regulatory landscape and integration of corrective genome editing into in vitro fertilization. |
| Q35667300 | Prenatal Screening Using Maternal Markers |
| Q59795817 | The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies |
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