Table 2.

Detailed information of positive cases in this study

Positive Cases	Sample Information			CMA			dPCR			Fetal anomaly	Outcome	GA at delivery
	GA	MA	cfDNA (ng/ul)	Deletion/Duplication	Size (Mb)	Region	ZA-B	ZB-D	Final result
	(WKS)	(YRS)
Patient 01	20	23	0.240	duplication	2.8	LCRA-D	9.891	13.18	duplication(LCRA-D)	None	TOP	–
Patient 02	19	35	0.412	duplication	2.8	LCRA-D	12.568	15.193	duplication(LCRA-D)	None	TOP	–
Patient 03	21	31	0.368	duplication	2.9	LCRA-D	11.988	14.978	duplication(LCRA-D)	None	TOP	–
Patient 04	18 + 4	25	0.332	duplication	1.4	LCRA-B	12.765	− 0.293	duplication(LCRA-B)	None	TOP	–
Patient 05	18 + 3	26	0.320	duplication	2.8	LCRA-D	0.397	− 0.101	Negative	None	Live birth	Late preterm
Patient 06	18 + 3	35	0.128	deletion	3.2	LCRA-D	− 0.783	− 0.958	Negative	NT thickening	Live birth	Term
Patient 07	24 + 5	31	0.203	deletion	3.2	LCRA-D	− 18.274	− 21.151	deletion(LCRA-D)	Interrupted aortic arch, VSD	TOP	–
Patient 08	24 + 1	32	0.250	deletion	3.2	LCRA-D	− 3.716	− 4.635	deletion(LCRA-D)	Interrupted aortic arch	TOP	–
Patient 09	22 + 3	23	0.320	duplication	1.4	LCRA-B	12.481	− 0.661	duplication(LCRA-B)	None	Live birth	Term
Patient 10	26	21	0.284	duplication	2.8	LCRA-D	− 5.603	− 5.683	deletion(LCRA-D)	None	TOP	–
Patient 11	20 + 2	30	0.21	deletion	1.7	LCRA-B	− 13.633	− 0.8	deletion(LCRA-B)	None	TOP	–
Patient 12	23 + 5	21	0.348	duplication	3.2	LCRA-D	10.126	13.751	duplication(LCRA-D)	None	TOP	–
Patient 13	21	36	0.298	duplication	2.5	LCRA-D	15.868	17.86	duplication(LCRA-D)	None	TOP	–
Patient 14	19 + 5	34	0.466	deletion	1.7	LCRA-B	− 0.775	− 0.229	Negative	Interrupted aortic arch	TOP	–
Patient 15	18 + 5	26	0.284	deletion	0.8	LCRB-D	− 0.287	− 12.626	deletion(LCRB-D)	Interrupted aortic arch, VSD	TOP	–

Late preterm birth was defined as birth at 34 to 37 weeks’ gestation

LCR low-copy repeats, GA gestational age, NT nuchal translucency, TOP termination of pregnancy, VSD ventricular septal defect