#	Query	Results
S1	(MH “Chromosome Aberrations+”)	1,656
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*))	4,891
S6	(MH “Trisomy 13”)	62
S7	(chromosome* 13 or chromosome* thirteen or patau* or bartholinpatau* or T13)	459
S8	(MH “Trisomy 18”)	75
S9	(chromosome* 18 or chromosome* eighteen or edward* syndrome* or T18)	311
S10	(MH “Down Syndrome”)	5,566
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*)	673
S13	(MH “Turner's Syndrome”)	483
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*)	332
S17	(MH “XYY Syndrome”)	5
S18	(xyy or jacob* syndrome* or yy syndrome*)	66
S19	(xxx or triple-x or triplo-x*)	183,845
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	201,252
S35	(MH “Sequence Analysis+”)	12,935
S36	((DNA or parallel or next-generation or shotgun or target*) N1 sequenc*)	3,714
S37	(MPSS or NGS or CSS or TMPS)	1,678
S38	((high throughput N2 (analys#s or sequenc*)) or single nucleotide polymorphism* or SNP or SNPs)	8,017
S39	S35 OR S36 OR S37 OR S38	23,341
S40	(MH “Genetic Screening”)	9,414
S41	((genetic* or gene or genes or genome* or genomic*) N2 (test or tests or testing or diagnos#s or screen*))	14,372
S42	S40 OR S41	14,372
S43	(MH “Noninvasive Procedures”)	1,777
S44	(noninvasive* or non-invasive*)	22,509
S45	S43 OR S44	22,509
S46	S42 AND S45	294
S47	S39 OR S46	23,575
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*))	9,738
S50	(maternal N2 (plasm* or blood))	1,823
S51	S48 OR S49 OR S50	11,233
S52	S47 AND S51	546
S53	(((f?etal or f?etus* or free-f?etal or placenta*) N2 dna) or cell-free dna)	5,146
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	6,493
S58	S34 AND S57	1,247
S59	PT Case Study or Commentary or Editorial or Letter or Proceedings	403,814
S60	S58 not S59	1,181
S61	Limiters - Published Date: 20070101-20171231	1,055
S62	Narrow by Language: - english	1,051