. 2019 Feb 14;7(4):e00597. doi: 10.1002/mgg3.597

Table 2.

Comparison of copy number variants (CNVs) identified using next‐generation sequencing of amniotic fluid and targeted capture sequencing of maternal peripheral blood

Sample ID	GA	MW (kg)	Gestation (week + day)	Serum screening	CNVs size	Amniotic fluid result	NIPT targeted capture sequencing
Sample ID	GA	MW (kg)	Gestation (week + day)	Serum screening	CNVs size	Amniotic fluid result	Fetal gender	FF (%)	ATD(X)	Median Z‐value of region	CNVs size	Chromosome location
AWD01Y1401487‐1‐59	29	63	15 + 3	High risk	38.55 M	seq [GRCh37]dup(9)(p24.3p21.3) chr9:g. 210001_38760000dup	Male	16.99	270.53	3.37	21 M	seq [GRCh37]dup(9)(p24.3p21.3) chr9:g.1_21000000dup
					2 M	seq [GRCh37]dup(16)(q24.2q24.3) chr16:g. 88260001_90260000dup				ND	ND	ND
					0.65 M	seq [GRCh37]dup(19)(q11q12) chr19:g. 28360001_29010000dup				ND	ND	ND
AWD01Y1401486‐1‐58	39	62	24 + 6	NA	1.05 M	seq [GRCh37]dup(10)(q25.1) chr10:g. 109560005_110610004dup	Female	17.96	278.99	ND	ND	ND
					37.8 M	seq [GRCh37]dup(12)(p13.33 q11) chr12:g. 60001_37860001dup				2.60	8 M	Seq [GRCh37]dup(12)(p13.33p13.31) chr12:g.1_8000000dup
					37.8 M	seq [GRCh37]dup(12)(p13.33 q11) chr12:g. 60001_37860001dup				2.77	23.5 M	seq [GRCh37]dup(12)(p13.31q11.21) chr12:g. 8000001_31500000dup
AWD01Y1401488‐1‐60	27	58	18 + 3	Low risk	20 M	seq [GRCh37]dup(20)(p13p11.22) chr20:g. 60001_21810000dup	Female	20.22	151.75	5.27	20 M	seq [GRCh37]dup(20)(p13p11.23) chr20:g. 1_20000000dup

GA, gestational age; MW, maternal weight; NA, not available; M, million; FF, fetal fraction; Dup, duplication; ND, not detected; ATD(X), average target depth(X).