| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Ignatia B. Van den Veyver | |
| P2860 | cites work | DNA Sequencing versus Standard Prenatal Aneuploidy Screening | Q22250872 |
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| Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci | Q24632266 | ||
| Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood | Q24657306 | ||
| Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma | Q46170290 | ||
| 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 | ||
| Cell-free DNA analysis for noninvasive examination of trisomy | Q46784231 | ||
| Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing | Q46816545 | ||
| Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing | Q46877513 | ||
| Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing | Q48460149 | ||
| Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment | Q50128700 | ||
| Committee Opinion No. 469: Carrier Screening for Fragile X Syndrome | Q50302146 | ||
| Prenatal exome sequencing for fetuses with structural abnormalities: the next step | Q87662199 | ||
| Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution | Q87790056 | ||
| A new marker set that identifies fetal cells in maternal circulation with high specificity | Q88045563 | ||
| Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities | Q89250100 | ||
| Practice Bulletin No. 163 Summary: Screening for Fetal Aneuploidy | Q89271343 | ||
| Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA | Q95437491 | ||
| Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease | Q26991553 | ||
| Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita | Q28115991 | ||
| Carrier screening for spinal muscular atrophy | Q28298147 | ||
| Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal Plasma | Q28314918 | ||
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
| DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study | Q30414408 | ||
| Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound | Q33649327 | ||
| FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project | Q34000906 | ||
| DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study | Q34029044 | ||
| Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort | Q34088575 | ||
| Fetal gender and several cytokines are associated with the number of fetal cells in maternal blood--an observational study | Q34134209 | ||
| 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 | ||
| An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals | Q34299625 | ||
| Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples | Q34301776 | ||
| Recent advances in the prenatal interrogation of the human fetal genome | Q34312211 | ||
| Clinical diagnosis by whole-genome sequencing of a prenatal sample | Q34315784 | ||
| Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. | Q34340985 | ||
| ACMG position statement on prenatal/preconception expanded carrier screening | Q34341318 | ||
| An exome sequencing strategy to diagnose lethal autosomal recessive disorders | Q34380805 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy | Q34418944 | ||
| Genome sequencing identifies major causes of severe intellectual disability | Q34422838 | ||
| Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing | Q34433169 | ||
| Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test | Q34450758 | ||
| Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes | Q34452242 | ||
| Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study | Q34482155 | ||
| Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies | Q34484712 | ||
| Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics | Q34535626 | ||
| Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism | Q34649324 | ||
| Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice | Q38567069 | ||
| Posttest risk calculation following positive noninvasive prenatal screening using cell-free DNA in maternal plasma | Q38698181 | ||
| Current controversies in traditional and expanded carrier screening | Q38722770 | ||
| Using fetal cells for prenatal diagnosis: History and recent progress | Q38822505 | ||
| Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. | Q39024055 | ||
| Characterization of fetal cells from the maternal circulation by microarray gene expression analysis--could the extravillous trophoblasts be a target for future cell-based non-invasive prenatal diagnosis? | Q39317334 | ||
| Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. | Q39370217 | ||
| Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants | Q39980269 | ||
| Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. | Q40157604 | ||
| X chromosome loss and ageing | Q40167598 | ||
| Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies | Q40294105 | ||
| Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome: a national cohort of 147,987 singleton pregnancies. | Q40307444 | ||
| Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology. | Q40458595 | ||
| Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. | Q41235376 | ||
| Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. | Q41566460 | ||
| Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology | Q41609597 | ||
| Rare ACTG1 variants in fetal microlissencephaly | Q41927744 | ||
| Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. | Q41931303 | ||
| Clinical application of midtrimester non-invasive fetal RHD genotyping and identification of RHD variants in a mixed-ethnic population. | Q43787267 | ||
| Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center | Q43862864 | ||
| Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. | Q43981389 | ||
| 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 | ||
| A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing | Q45049473 | ||
| Evaluation of the impact of density gradient centrifugation on fetal cell loss during enrichment from maternal peripheral blood | Q45246040 | ||
| Noninvasive prenatal molecular karyotyping from maternal plasma | Q34683906 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein | Q34902937 | ||
| Karyotype versus microarray testing for genetic abnormalities after stillbirth | Q34966044 | ||
| Noninvasive prenatal diagnosis of a fetal microdeletion syndrome | Q35020502 | ||
| Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 | ||
| Validation of automatic scanning of microscope slides in recovering rare cellular events: application for detection of fetal cells in maternal blood | Q35104321 | ||
| Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis | Q35209735 | ||
| Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up | Q35832840 | ||
| Noninvasive whole-genome sequencing of a human fetus. | Q36048523 | ||
| Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis | Q36133257 | ||
| Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening | Q36184534 | ||
| Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time | Q36274725 | ||
| Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. | Q36311237 | ||
| Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. | Q36354562 | ||
| Chromosomal microarray versus karyotyping for prenatal diagnosis | Q36546668 | ||
| Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma | Q36595101 | ||
| Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? | Q36787475 | ||
| Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation | Q36806004 | ||
| Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases | Q36881942 | ||
| Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma | Q37010246 | ||
| Carrier testing for severe childhood recessive diseases by next-generation sequencing | Q37086582 | ||
| Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing | Q37279297 | ||
| Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling | Q37345805 | ||
| Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects | Q37351817 | ||
| ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis | Q37855469 | ||
| Increased nuchal translucency in the presence of normal chromosomes: what's next? | Q37978739 | ||
| Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. | Q37998942 | ||
| Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis | Q38091392 | ||
| ACMG statement on noninvasive prenatal screening for fetal aneuploidy. | Q38096182 | ||
| Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis. | Q38121906 | ||
| Noninvasive prenatal screening by next-generation sequencing | Q38213540 | ||
| Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes | Q38232194 | ||
| Circulating cell-free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers | Q38459998 | ||
| Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders | Q38562550 | ||
| Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. | Q50750814 | ||
| Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. | Q50955444 | ||
| Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology. | Q50986525 | ||
| 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 | ||
| Genetic assessment following increased nuchal translucency and normal karyotype. | Q51550913 | ||
| Diagnostic accuracy of noninvasive fetal Rh genotyping from maternal blood--a meta-analysis. | Q53597278 | ||
| Reply: To PMID 25111587. | Q53737390 | ||
| Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing. | Q54184929 | ||
| The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. | Q54708648 | ||
| Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal | Q56768446 | ||
| Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent | Q56774558 | ||
| Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
| Committee Opinion No. 640 | Q57254622 | ||
| Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities | Q57839567 | ||
| Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicism | Q58028950 | ||
| Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics | Q61847812 | ||
| Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18 | Q61847821 | ||
| Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population | Q61847837 | ||
| Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma | Q63315257 | ||
| Fetal cells in maternal blood: NIFTY clinical trial interim analysis. DM-STAT. NICHD fetal cell study (NIFTY) group | Q73084023 | ||
| New strategy for prenatal diagnosis of X-linked disorders | Q74053620 | ||
| ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy | Q80138010 | ||
| Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy | Q85476321 | ||
| Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders | Q85960121 | ||
| The impact of utilization of early aneuploidy screening on amniocenteses available for training in obstetrics and fetal medicine | Q85964884 | ||
| Circulating cell free DNA testing: are some test failures informative? | Q86111481 | ||
| Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population | Q86847268 | ||
| European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing | Q86994177 | ||
| Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening | Q87011794 | ||
| Accurate description of DNA-based noninvasive prenatal screening | Q87033149 | ||
| Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern? | Q87131280 | ||
| Clinical experience and follow-up with large-scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing | Q87241802 | ||
| Noninvasive prenatal testing for 22q11.2 deletion syndrome: deeper sequencing increases the positive predictive value | Q87330550 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 2591 | |
| P577 | publication date | 2016-10-28 | |
| P1433 | published in | F1000Research | Q27701587 |
| P1476 | title | Recent advances in prenatal genetic screening and testing | |
| P478 | volume | 5 |
| Q64113568 | Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis |
| Q48130272 | Interpretations of autonomous decision-making in antenatal genetic screening among women in China, Hong Kong and Pakistan |
| Q47140110 | Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries. |
| Q48310538 | Missed opportunities: unidentified genetic risk factors in prenatal care. |
| Q34558273 | Promises, pitfalls and practicalities of prenatal whole exome sequencing |
| Q56927575 | Recent developments in genetics and medically assisted reproduction: from research to clinical applications |
| Q93118941 | Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡ |
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