A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?

Dai, Peng; Yang, Yanfeng; Zhao, Ganye; Gu, Zhiqiang; Ren, Huanan; Hu, Shuang; Liu, Ning; Jiao, Weimeng; Li, Jinfang; Kong, Xiangdong

doi:10.1186/s12967-022-03455-y

Table 6 Positive sample information and test results

From: A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?

Pos Cases	Sample information				Clinical results		The dPCR-NIPT results
	GA (WKs)	MA (Yrs)	cfDNA (ng/uL)	cffDNA (%)	1st&2nd Tri-Scrn	CVS/AC Diagn	Z-scores		Final call
	GA (WKs)	MA (Yrs)	cfDNA (ng/uL)	cffDNA (%)	1st&2nd Tri-Scrn	CVS/AC Diagn	Z_21/18	Z_21/13	Z_18/13
1	12	26	0.30	12.03	Abn Ultr	T21	9.03	3.16	0.38	T21
2	13	28	0.48	11.97	Abn Ultr	T21	4.31	2.45	− 0.50	T21
3	12	44	0.24	10.22	Abn Ultr	T21	3.55	2.81	1.18	T21
4	13	28	0.42	10.41	Abn Ultr	T21	2.92	2.11	− 0.42	T21
5	12	29	0.22	9.83	Abn Ultr	T21	2.90	2.60	− 0.42	T21
6	13	27	0.32	7.11	Abn Ultr	T21	2.32	2.56	0.93	T21
7	13	30	0.48	11.35	Abn Ultr	T21	2.31	2.54	0.70	T21
8	12	20	0.35	11.18	Abn Ultr	T21	2.04	1.72	− 0.38	T21
9	12	19	0.40	13.00	Abn Ultr	T21	1.81	2.24	0.68	T21
10	12	27	0.35	ND	Abn Ultr	T21	1.76	1.77	0.61	T21
11	12	33	0.41	15.80	Abn Ultr	T21	3.91	1.58	− 0.72	T21
12	13	34	0.28	16.83	Abn Ultr	T21	3.14	1.33	− 1.52	T21
13	12	39	0.24	15.85	Abn Ultr	T21	2.56	1.44	− 0.27	T21
14	12	29	0.49	ND	Abn Ultr	T21	2.37	1.21	− 0.12	T21
15	12	42	0.43	7.29	Abn Ultr	T21	2.16	0.94	− 0.32	T21
16	19	37	0.40	14.07	Adv MA	T21	5.77	6.89	0.90	T21
17	19	25	0.32	16.92	SBT HR	T21	4.47	5.25	0.74	T21
18	16	33	0.28	13.39	SBT HR	T21	3.38	6.89	0.56	T21
19	13	31	0.39	7.45	SBT HR	T21	2.36	1.68	− 0.89	T21
20	17	22	0.29	9.02	SBT HR	T21	2.17	3.27	0.80	T21
21	18	28	0.23	14.23	SBT HR	T21	1.41	4.56	0.59	T21
22	17	33	0.35	6.80	SBT IR	T21	4.88	4.08	0.66	T21
23	19	30	0.34	13.38	SBT IR	T21	3.69	4.63	0.72	T21
24	13	31	0.51	6.98	SBT IR	T21	1.31	2.12	1.02	T21
25	15	23	0.53	9.69	NGS	T21	2.40	3.15	0.37	T21
26	13	27	0.37	6.71	Abn Ultr	T18	2.46	2.29	0.95	T21
27	12	27	0.20	ND	Abn Ultr	T18	− 6.07	− 1.20	3.41	T18
28	12	30	0.21	6.59	Abn Ultr	T18	− 1.89	1.03	2.65	T18
29	13	29	0.31	18.13	Abn Ultr	T18	− 3.99	0.20	2.40	T18
30	12	37	0.32	8.86	Abn Ultr	T18	− 2.82	− 0.17	2.31	T18
32	12	40	0.27	15.03	Abn Ultr	T18	− 1.71	0.50	2.00	T18
33	12	32	0.42	9.50	Abn Ultr	T18	− 3.01	− 1.38	1.74	T18
34	12	29	0.31	ND	Abn Ultr	T18	− 3.06	− 0.87	1.18	T18
35	13	28	0.34	8.87	Abn Ultr	T18	− 1.85	− 1.51	1.10	T18
31	17	23	0.35	17.38	NGS	T18	− 2.47	1.05	2.12	T18
36	12	25	0.60	ND	Abn Ultr	T13	− 1.42	− 2.31	− 1.86	T13

The sample information, clinical test results and the dPCR-NIPT results for the 36 trisomic positive samples are summarized. Sample 26 (shown in bold) is the T18 positive sample called as T21 positive by the dPCR-NIPT assay. GA gestational age, WKs weeks, MA maternal age, Yrs years, cfDNA cell free DNA, cffDNA cell free fetal DNA, 1st&2nd Tri-scrn, first and second trimester screens; Diagn, diagnostics, Abn Ultr abnormal ultrasound, SBT serum biochemical test, HR high risk, IR intermediate risk, NGS next generation sequence

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