Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study

Table 2 Twenty-two patients with atypical chromosome abnormalities and their combined first trimester screening results

	Chromosome abnormalities	T21 risk (1:x)	T18 risk (1:x)	PAPP-A MoM	FB-hCG MoM	NT (mm)	NT MoM
1	46,X,+mar	10	970	.34	.78	12.60	7.15
2	46,XX,del(13)(q13q31)dn	240	5900	1.64	.88	6.40	4.12
3	arr[hg19]4p16.3p14(73,000-36,541,871)×1	2	770	1.21	2.77	5.50	2.88
4	47,XX,+mar.ish i(9)(p10)(wcp9+)dn	120	180	.63	.24	5.50	3.89
5	arr[hg19]6p12.3(46,449,532-47,682,004)×1 mat	6	2700	1.25	1.22	4.90	2.97
6	47,XX,+ 20	140	27,000	1.06	1.76	2.50	1.40
7	45,XY,rob(13;14)(q10;q10)	230	100,000	1.63	4.07	2.50	1.39
8	47,XY,+ 22	40	92,000	.21	2.05	2.20	1.22
9	46,XX,del(13)(q32)dn	90	10,000	.21	.96	1.90	1.21
10	45,XX,rob(13;14)(q10;q10)mat	170	100,000	.19	1.52	1.60	1.08
11	47,XX,+ 22	11	2800	.09	1.67	1.40	.91
12	46,XY,r(21)p(11.2q22.3)dn	210	100,000	.45	1.47	2.10	1.20
13	mos 47,XX,+ 22[20]/46,XX [10]	2	320	.11	1.74	4.70	3.13
14	mos 47,XX,+del(2) (q11.2) [3]/46,XX [27]	3	130	1.00	.68	4.60	2.87
15	mos 47,XY,+r(18)dn [18]/46,XY [12]	220	10,000	.43	.92	2.10	1.14
16	mos 47,XX,+ 16[18]/46,XX [12]	14	16,000	.18	1.45	1.90	1.20
17	mos 47,XY,+8[4]/46,XY[27]dn	30	100,000	.25	3.46	1.70	1.01
18	mos 47,XX,+mar dn [11]/46,XX [19]	110	100,000	.33	2.18	1.40	.82
19	mos 47,XX,+ 16[8]/46,XX [14]	6	51,000	.12	2.76	1.40	.90
20	mos 45,X [28]/46,X,r(Y)[2]dn	20	6000	1.14	1.03	10.30	5.78
21	mos 45,X [20]/46,XX [20]	11	16,000	1.45	2.98	4.10	2.77
22	mos 45,X [5]/46,XX[55]	180	100,000	.35	1.88	1.80	1.06

Risk of trisomy 21 (T21), risk of trisomy 18 (T18), nuchal translucency (NT), pregnancy associated plasma protein A (PAPP-A), free β-human chorionic gonadotropin (fβ-hCG), and multiple of medians (MoM)

ISSN: 1471-2393