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 |
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78 |