The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results

Table 3

The results of CNVs in the pregnant women with NIPS-positive results.

Case	Age	NIPS				Amniotic fluid			Pregnant outcomes
		Gestational weeks	cffDNA%		Results	Gestational weeks	Results	CNVs
1	27		—	X: 0.57; Y: 53.49	ChrX+(Y)		arr[hg19] Xp21.3p11.4 (27,089,486-38,583,792)x2	P	Following up^a
2	28		13.10	2.08	Chr16+		arr[hg19] 16p13.11p12.3 (15,319,277-18,242,713)x3	P	Following up^b
3	30		29.18	7.25	Chr13+		arr[hg19] Xp22.31 (6,455,151-8,143,509)x3	P	Following up^c
4	36		9.74	X: -3.99; Y: 48.81	ChrX-Y		arr[hg19] Xp11.4 (41,368,239-41,630,429)x2	VUS	Terminal pregnancy^d
5	31		11.35	X: -3.72; Y: -0.56	ChrX-		arr[hg19] 7q21.3 (96,697,458-97,803,931)x3	VUS	Normal
6	34		16.57	X: -54.68; Y: 0.32	ChrX-		arr[hg19] 16p12.2 (21,405,327-21,816,543)x1; arr[hg19] 17q12q21.32 (33,878,223-46,597,013) hmz	VUS	Normal
7	36		7.2	X: -3.22; Y: 0.21	ChrX-		arr[hg19] 15q14 (34,252,925-36,783,190)x3	VUS	Normal
8	32		—	6.33	Chr9+		arr[hg19] 9q31.1q33.1 (107,923,508-121,624,320)x3	VUS	Neonatal intestinal obstruction
9	24		14.84	4.32	Chr21+		arr[hg19] 21q21.2 (24,247,587-26,223,391)x3	VUS	Normal
10	28		5.21	-5.14	Chr21-		arr[hg19] 5q14.3q15 (83,979,073-95,066,296) hmz	VUS	Normal
11	32		—	-5.76	Chr13-		arr[hg19] 2p25.3 (314,374-850,139)x3	VUS	Normal
12	27		15.76	-3.10	Chr9-		arr[hg19] 9p21.1 (28,742,800-29,780,373)x1; arr[hg19] 9p21.1 (30,547,485-31,996,569)x1	VUS	Normal
13	22		7.73	-3.28	Chr12-		arr[hg19] 12q14.1 (58,458,371-61,582,295)x1	VUS	Normal
14	30		14.05	4.28	Chr3+		arr[hg19] Yq11.221q11.23 (19,563,599-26,273,936)x2	VUS	Normal
15	25		7.88	0.79	Chr2+		arr[hg19] 2p12 (78,631,709-79,973,436)x3	VUS	Normal
16	24		17.52	4.51	Chr12+		arr[hg19] 12q21.2q21.31 (78,770,625-84,470,319)x3	VUS	Normal
17	37		13.11	1.21	Chr7+		arr[hg19] 7q31.31 (117,614,219-118,512,894)x3	LB	Normal
18	31		7.65	0.56	Chr6+		arr[hg19] 6q26q27 (164,292,513-165,017,873)x3	LB	Normal
19	39		17.61	6.09	Chr11+		arr[hg19] 11p11.12 (49,193,984-51,238,712)x3	LB	Normal
20	26		11.26	3.35	ChrX+(Y)		arr[hg19] Xq21.2q21.31 (85,393,530-89,136,096)x2; arr[hg19] Xq26.3q27.1 (137,899,736-139,867,922)x2; arr[hg19] Xq27.3 (142,856,383-144,729,2480)x2	VUS	Normal
21	26		21.11	-7.77	ChrX-		arr[hg19] 8q23.3 (113,624,542-115,587,168)x3	VUS	Normal

CNVs: copy number variations; P: pathogenic; LP: likely pathogenic; VUS: variants of uncertain significance; LB: likely benign; B: benign. ^aThe women insisted on continuing pregnancy, and a boy was born. After 15 months of follow-up, the child has not yet shown intellectual disability and other manifestations. ^bAfter 18 months of follow-up, the child has not yet shown growth retardation or other manifestations. ^cAfter 12 months of follow-up, the child has not yet shown growth retardation or other manifestations. ^dDue to severe fetal growth retardation, the mother decided to terminate the pregnancy. Normal: the pregnant woman decided to continue the pregnancy, and the babies were born. After 5 months to 2 years of follow-up, there was no obvious abnormality in the growth and development of children.