. 2021 Mar 23;9(5):e1654. doi: 10.1002/mgg3.1654

TABLE 1.

Basic features of included studies, N = 21

Study ID	Condition ^a	Study design and participants	Prior risk	Index test	Threshold	Reference standard
Massively Parallel Shotgun Sequencing (MPSS), N = 15
Bianchi (2012)	45,X	Prospective, multicenter observational study 532 singleton pregnancies were analyzed	High	Illumina HiSeq 2000 sequencer in 6‐plex	NCV chrom X < −4.0 and NCV chrom Y < 2.5	Karyotype
Bianchi (2013)	45,X	Retrospective study 113 singleton pregnancies were analyzed	High	Illumina TrueSeq 3.0 sequencing chemistry	NCV chrom X < −3.0 and NCV chrom Y < 3.0	Karyotype
Ivashchenko (2019)	47,XXX	Observational study 149 singleton pregnancies were analyzed	High	Next‐Generation Sequencing	Z‐score <−3 or >3	Karyotype, FISH
Jiang (2012)	45,X, 47,XXY, 47,XYY	Prospective Case‐Control design 903 singleton pregnancies were analyzed	High	Illumina Genome Analyzer IIx or HiSeq 2000 sequencer in multiplex	t score <−2.5 for 47,XXX and 45,X t score >2.5 for 47,XXY and 47,XYY	Karyotype
Lau (2012)	45,X, 47,XXX, 47XXY, 47,XYY	Blinded prospective cohort study 108 singleton pregnancies were analyzed	High	Illumina HiSeq 2000 sequencer in 12‐plex	Z‐score of [−3.5; −2.5] for 45,X, and 47,XXX ‐Z‐score of [2.5;3.5] for 47,XXY, and 47,XYY	Karyotype
Liu (2012)	45,X, 47,XXX, 47XXY, 47,XYY	Prospective cohort study 153 singleton pregnancies were analyzed	High	Illumina HiSeq sequencer in multiplex	Z score ≥3	Karyotype
Liang (2013)	45,X, 47,XXX, 47,XXY, 47,XYY	Blinded prospective study 412 singleton pregnancies were analyzed	High	v2 Illumina HiSeq 2000 sequencer in 8‐plex or 12‐ plex	Z‐score of −2.91 for 45,X, and 47,XXX Z‐score of 3 for 47,XXY, and 47,XYY	Karyotype
Lefkowitz (2016)	45,X, 47,XXX, 47,XXY, 47,XYY	Blinded retrospective clinical study 1,166 singleton pregnancies were analyzed	High	Illumina HiSeq 2000 sequencer in 6‐plex or uniplex	Z‐score of [−3.5; −2.5] for 45,X, and 47,XXX Z‐score of [2.5;3.5] for 47,XXY, and 47,XYY	G‐band karyotype
Li (2018)	45,X, 47,XXX, 47,XXY, 47,XYY	Retrospective observational study 570 singleton pregnancies were analyzed	High	BGISEQ‐500 sequencer	Z‐score <−3 or >3	Karyotype
Mazloom (2013)	45,X, 47,XXX, 47,XXY, 47,XYY	Blinded prospective cohort study 411 singleton pregnancies were analyzed	High	Illumina v3 HiSeq 2000 sequencer in 12‐plex	‐Z‐score of [−3.5; −2.5] for 45,X, and 47,XXX ‐Z‐score of [2.5;3.5] for 47,XXY, and 47,XYY	Karyotype
Porreco (2014)	45,X, 47,XXX, 47,XXY, 47,XYY	Blinded prospective multicenter observational study 3,278 singleton pregnancies were analyzed for 45,X, 47,XXX, and 3,201 were analyzed for 47,XXY, 47,XYY	High	Illumina HiSeq 2000 sequencer in 12‐plex	‐Z‐score of [−3.5; −2.5] for 45,X, and 47,XXX ‐Z‐score of [2.5;3.5] for 47,XXY, and 47,XYY	Karyotype
Sehnert (2011)	45,X	Retrospective cohort study 47 singleton pregnancies were analyzed	High	Illumina Genome Analyzer IIx sequencer in uniplex	NCV <−3	Karyotype
Shaw (2014)	45,X, 47,XXX, 47,XXY, 47,XYY	Prospective cohort study 200 singleton pregnancies were analysed	Mixed	v2 Illumina HiSeq 2000 sequencer in 12‐plex	Z‐score of [−3.5; −2.5] for 45,X, and 47,XXX ‐Z‐score of [2.5;3.5] for 47,XXY, and 47,XYY	Karyotype
Song (2015)	45,X, 47,XXX, 47,XXY	Blinded prospective cohort study 178 singleton pregnancies were analyzed	High	Illumina v2 HiSeq 2000 sequencer in 12‐plex	Z‐score of −3 for 45,X and 47,XXX ‐Z‐score of 3 for 47,XYY	Karyotype
Zhu (2019)	45,X, 47,XXY	Blinded retrospective observational study 802 singleton pregnancies were analyzed	High	Next‐Generation Sequencing (Ion Proton sequencing)	Z absolute <1.96 or >3	Karyotype
Targeted Massively Parallel Sequencing (TMPS), N = 6
Hooks (2014)	45,X, 47,XXX, 47,XXY, 47,XYY	Prospective study 414 singleton pregnancies were analyzed	High	DANSR™ Assay and algorithm (FORTE^TM)	NR	Karyotype
Nicolaides (2013)	45,X, 47,XXX, 47,XXY, 47,XYY	Blinded prospective study 229 singleton pregnancies were analyzed	High	SNP‐based Method (NATUS algorithm), Illumina Genome Analyzer IIx or HiSeq sequencer, 19,488‐plex targeted PCR	NR	Karyotype
Nicolaides (2014)	45,X, 47,XXX, 47,XXY, 47,XYY	Case‐control study 172 singleton pregnancies were analysed	High	DANSR™ assay (FORTE), Illumina HiSeq 200 in 96‐plex	FORTE risk score of 1%	Karyotype
Pergament (2014)	45,X	A blinded prospective cohort study 963 singleton pregnancies were analyzed	Mixed	The Next‐generation Aneuploidy Test Using SNPs algorithm	NR	Karyotype
Persico (2016)	45,X, 47,XXX, 47,XXY, 47,XYY	A blinded prospective cohort study 249 singleton pregnancies were analyzed	High	SNP‐based Method (NATUS algorithm), Illumina Genome Analyzer IIx or HiSeq sequencer, 19,488‐plex targeted PCR	A risk score of 1%	Karyotype
Samango‐Sprouse (2013)	45,X, 47,XXX, 47,XXY, 47,XYY	A blinded prospective cohort study 286 singleton pregnancies were analyzed	Mixed	SNP‐based Method (NATUS algorithm), Illumina HiSeq sequencer, 19,488‐plex targeted PCR	NR	Karyotype

Abbreviation: NCV, normalized chromosome value.

^{^a}

The conditions presented in this review.