Table 4.

The variants of uncertain clinical significance in ultrasonically abnormal fetuses.

Case	CC week	SNP array	Size (Mb)	Indication	Interpretation	Outcome
1	28+4	Chr16: 14,897,401–16,534,031	1.6	VSD	VUS Loss 16p13.11, Hereditary stress susceptibility peripheral neuropathy, The carrier frequency in the population is less than 1%	Eutocia Good growth and development
2	28+3	Chr16: 15,325,072–16,272,403	0.92	Bilateral dysplasia with hydronephrosis	VUS Gain 16p13.11, The carrier frequency in the population is less than 1%, penetrance of 5–10%	Termination of pregnancy
3	32+2	Chr16: 15,171,146–16,309,046	1.1	Echogenic bowel	VUS: Gain 16p13.11, The carrier frequency in the population is less than 1%, penetrance of 5–10%, Inherited from mother	Eutocia Good growth and development
4	31+1	Chr16: 15,510,512–16,309,046	0.78	Tricuspid regurgitation	VUS Gain 16p13.11, The carrier frequency in the population is less than 1%, penetrance of 5–10%	Eutocia Good growth and development
5	33+2	Chr15: 22,770,421–23,277,435	0.50	VSD,Dandy-Walker malformation	VUS Loss 15q11.2, inherited from father	Termination of pregnancy
6	28	Chr15: 22,770,421–23,286,423	0.5	Echogenic bowel	VUS Loss 15q11.2, inherited from father	Cesarean growth retardation
7	29+1	Chr15: 22,770,421–23,082,237	0.30	Subcutaneous cyst at the back of the neck	VUS Loss 15q11.2, inherited from father	Cesarean growth retardation
8	32+4	Chr17: 41,774,473–42,491,805	0.70	FGR	VUS Gain 17q21.31, no report in the DGV	Cesarean growth retardation
9	28+1	Chr13: 52,649,105–53,172,866	0.53	Hydronephrosis, strephenopodia, tricuspid regurgitation	VUS Gain 13q14.3, no report in the DGV, de novo	Termination of pregnancy
10	33+2	Chr10: 102,972,457–103,179,063	0.20	Posterior fossa widened	VUS Gain 10q24.31q24.32, no report in the DGV	Eutocia Good growth and development
11	29	Chr8: 3,703,883–5,940,433	2.2	Bilateral choroid plexus cysts	VUS Gain 8p23.2, no report in the DGV database, de novo	Eutocia Good growth and development
12	29+3	Chr4: 106,284,925–107,545,257	1.2	VSD	VUS Gain 4q24, no report in the DGV, de novo	Loss to follow-up
13	35+2	Chr2: 224,459,152–225,330,583	0.85	Posterior fossa widened	VUS Gain 2q36.1q36.2, no report in the DGV, de novo	Cesarean Good growth and development
14	28+1	Chr2: 143,043,284–143,866,399	0.80	Pericardial effusion	VUS Gain 2q22.2, no report in the DGV, de novo	Eutocia Good growth and development
15	34	Chr1; Chr9: 145,375,770–145,770,627, 4,623,660–5,501,699	0.68, 0.86	Lateral ventricle widening	VUS Loss 1q21.1, gain 9p24.1, no report in the DGV, de novo	Eutocia Good growth and development
16	32	Chr2: 96,679,225–97,669,032	0.97	Hydronephrosis	VUS Loss 2q11.1.1q11.2, No report in the DGV database, de novo	Eutocia Good growth and development
17	33+3	Chr3: 1,855,754–2,663,625	0.79	Bilateral ventricle widening	VOUS Loss 3p26.3, no report in the DGV, de novo	Cesarean Good growth and development
18	29+1	Chr3: 42,875,130–43,309,436	0.42	Lateral ventricle widening	VUS Loss 3p22.1, no report in the DGV, de novo	Loss to follow-up
19	32+1	Chr3, Chr15: 188,788,120–191,331,505,23,620,191–24,978,547	2.5	Unilateral renal agenesis	VUS Loss 3q28, gain 15q11.2, no report in the DGV, de novo	Termination of pregnancy
20	29+6	Chr5: 4,482,234–6,636,035	2.1	Pericardial effusion	VUS Loss 5p15.33p15.31, no report in the DGV, de novo	Termination of pregnancy
21	29+2	Chr10: 42,433,738–48,006,310	5.5	Echogenic bowel	VUS Loss 10q11.21q11.22, The deletion fragment contains RET gene, associated with congenital megacolon, de novo	Termination of pregnancy
22	32+4	Chr14: 46,782,405–49,288,860	2.5	Hydrocephalus	VUS Loss 14q21.2q21.3, no report in the DGV, de novo	Eutocia Good growth and development
23	32+6	ChrX: 32,670,116–32,891,702	0.22	Pericardial effusion	VUS Loss Xp21.1, no report in the DGV, de novo	Loss to follow-up
24	28+6	Chr3, Chr5, Chr6, Chr12, Chr17, Chr21: 163,256,369–197,791,601, 41,029,137–46,313,469, 143,341,406–161,527,784, 56,011,100–77,134,151, 39,639,602–45,479,706, 28,124,165–42,352,287	99.1	Lateral ventricle widening	VUS Lack of heterozygosity 3q26.1q29, 5p13.1p11, 6q24.2q26, 12q13.2q21.2, 17q21.2q21.32, 21q21.3q22.2	Termination of pregnancy
25	32+3	Chr4: 133,718,289–154,569,367	20.8	FGR	VUS Lack of heterozygosity 4q28.3q31.3	Eutocia Good growth and development

CC cordocentesis, VSD ventricular septal defect, FGR fetal growth restriction, VUS variants of uncertain clinical significance.