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. 2019 Feb 19;19(4):1–166.
# Query Results
S1 (MH “Chromosome Aberrations+”) 1,658
S2 aneuploid* 1,492
S3 (trisom* or chromosom* triplicat*) 1,480
S4 (MH “Chromosome Disorders”) 3,823
S5 ((chromosom* or subchromosom* or sub-chromosom*) N1 (disorder* or anomal* or abnormal*)) 4,890
S6 (MH “Trisomy 13”) 62
S7 (chromosome* 13 or chromosome* thirteen or patau* or bartholinpatau* or T13) 460
S8 (MH “Trisomy 18”) 75
S9 (chromosome* 18 or chromosome* eighteen or edward* syndrome* or T18) 312
S10 (MH “Down Syndrome”) 5,567
S11 (chromosome* 21 or chromosome* twenty-one or chromosome* twentyone or down* syndrome* or T21) 7,008
S12 (((x or y) N1 chromosom*) or male sex chromosom* or female sex chromosom*) 674
S13 (MH “Turner's Syndrome”) 484
S14 (45 x or turner* syndrome* or bonnevie-ullrich or monosom* x or ullrich-turner*) 868
S15 (MH “Klinefelter's Syndrome”) 236
S16 (xxy or klinefelter* syndrome*) 333
S17 (MH “XYY Syndrome”) 5
S18 (xyy or jacob* syndrome* or yy syndrome*) 66
S19 (xxx or triple-x or triplo-x*) 183,921
S20 (micro-deletion* or microdeletion* or (copy number N1 variant*) or (chromosom* N1 deletion*) or (partial N1 monosom*)) 729
S21 1p36* 693
S22 (MH “DiGeorge Syndrome”) 237
S23 (digeorge* or di george* or CATCH22 or 22q11* or velocardiofacial or velo-cardio-facial or VCFS or cayler cardiofacial syndrome* or conotruncal anomaly face syndrome* or CTAF or sedlackova syndrome* or shprintzen syndrome* or takao syndrome*) 863
S24 (MH “Prader-Willi Syndrome”) 539
S25 (prader-willi* or labhart-willi* or prader-labhart-willi* or prader* syndrome* or royer* syndrome* or PWS or PLW or PLWS) 823
S26 (MH “Angelman Syndrome”) 154
S27 (angelman* or happy puppet* or 15q11*) 264
S28 (MH “Williams Syndrome”) 424
S29 (((supravalvar or hypercalcemia-supravalvar) N1 aortic stenosis) or williams* syndrome* or beuren* syndrome* or 7q11*) 558
S30 (MH “22q11 Deletion Syndrome+”) 297
S31 22q11* 438
S32 (MH “Cri-Du-Chat Syndrome”) 84
S33 (cri-du-chat or crying cat or cat cry or ((5p or 5q) N2 (syndrome* or monosom*))) 858
S34 S1 OR S2 OR S3 OR S4 OR S5 OR S6 OR S7 OR S8 OR S9 OR S10 OR S11 OR S12 OR S13 OR S14 OR S15 OR S16 OR S17 OR S18 OR S19 OR S20 OR S21 OR S22 OR S23 OR S24 OR S25 OR S26 OR S27 OR S28 OR S29 OR S30 OR S31 OR S32 OR S33 201,329
S35 (MH “Sequence Analysis+”) 12,938
S36 ((DNA or parallel or next-generation or shotgun or target*) N1 sequenc*) 3,716
S37 (MPSS or NGS or CSS or TMPS) 1,679
S38 ((high throughput N2 (analys#s or sequenc*)) or single nucleotide polymorphism* or SNP or SNPs) 8,019
S39 S35 OR S36 OR S37 OR S38 23,347
S40 (MH “Genetic Screening”) 9,418
S41 ((genetic* or gene or genes or genome* or genomic*) N2 (test or tests or testing or diagnos#s or screen*)) 14,379
S42 S40 OR S41 14,379
S43 (MH “Noninvasive Procedures”) 1,779
S44 (noninvasive* or non-invasive*) 22,526
S45 S43 OR S44 22,526
S46 S42 AND S45 294
S47 S39 OR S46 23,581
S48 (MH “Prenatal Diagnosis”) 6,277
S49 ((antenatal or ante-natal or intrauterine or intra-uterine or prenatal or pre-natal) N2 (test or tests or testing or diagnos#s or detect* or screen*)) 9,737
S50 (maternal N2 (plasm* or blood)) 1,823
S51 S48 OR S49 OR S50 11,232
S52 S47 AND S51 546
S53 (((f?etal or f?etus* or free-f?etal or placenta*) N2 dna) or cell-free dna) 5,148
S54 (cff DNA or cffDNA or cf DNA or cfDNA or f DNA or fDNA or ff DNA or ffDNA) 311
S55 ((noninvasive* or non-invasive*) N5 (prenatal or pre-natal or f?etal or f?etus*) N1 (test or tests or testing or diagnos#s or detect* or screen*)) 1,084
S56 (NIPT or NIPD or NIDT or gNIPT or NIPS) 409
S57 S52 OR S53 OR S54 OR S55 OR S56 6,495
S58 S34 AND S57 1,248
S59 (MH “Economics”) 11,409
S60 (MH “Economic Aspects of Illness”) 6,976
S61 (MH “Economic Value of Life”) 524
S62 MH “Economics, Dental” 110
S63 MH “Economics, Pharmaceutical” 1,801
S64 MW “ec” 145,411
S65 (econom* or price or prices or pricing or priced or discount* or expenditure* or budget* or pharmacoeconomic* or pharmacoeconomic*) 224,154
S66 (MH “Costs and Cost Analysis+”) 87,576
S67 TI cost* 41,334
S68 (cost effective*) 30,213
S69 AB (cost* N2 (util* or efficacy* or benefit* or minimi* or analy* or saving* or estimate* or allocation or control or sharing or instrument* or technolog*)) 20,956
S70 (decision N1 (tree* or analy* or model*)) 5,470
S71 (markov or markow or monte carlo) 3,627
S72 (MH “Quality-Adjusted Life Years”) 2,874
S73 (QOLY or QOLYs or HRQOL or HRQOLs or QALY or QALYs or QALE or QALEs) 6,879
S74 ((adjusted N1 (quality or life)) or (willing* N2 pay) or sensitivity analys?s) 12,813
S75 S59 OR S60 OR S61 OR S62 OR S63 OR S64 OR S65 OR S66 OR S67 OR S68 OR S69 OR S70 OR S71 OR S72 OR S73 OR S74 300,110
S76 S58 AND S75 84
S77 Limiters - Published Date: 20070101-20171231 78
S78 Narrow by Language: - english 78