TABLE 3.

Summary of the cases with nasal bone abnormality identified with pathogenic/likely pathogenic CNVs by genetic amiocentesis (n = 19).

Case	MA (y)	GA (w)	Other ultrasonic findings	Aneuploidy	Copy number variations	Classifi-cation	Outcomes
				Screening
1	28	27	None	cfDNA: LR	arr [GRCh37] 16p13.3 (3694760_4299989)x3	P	TOP
2	27	26	echoless midline brain, flat facial shape, micrognathia	cfDNA: LR	arr [GRCh37] 4p16.3p15.1 (68346_33755417)x1	P	TOP
			thoracolumbar scoliosis, abnormal left foot posture and SUA
3	30	27	SUA	MSS: LR	arr [CRCh37] 11q13.4q25 (72744004_134937416)x3	P	TOP
4	26	23	SUA	cfDNA: LR	arr [CRCh37] 1q44 (243943235_249224684)x1	P	TOP
5	29	23	TCD < −3SD, SUA	cfDNA: LR	arr [GRCh37] 5p15.33p14.1 (113576_25370521)x1	P	TOP
					arr [GRCh37] 9p24.3p21.3 (208454_20653331)x3	P
6	31	17	reversed a-wave in fetal ductus venosus	None	arr [GRCh37] 22q13.1q13.33 (38789935_51197766)x3	P	TOP
7	29	29	PLSVC	MSS: HR	arr [GRCh37] 19p13.2 (9736153_12602337)x1	P	TOP
8	27	23	None	cfDNA: LR	arr [GRCh37] 13q13.2q34 (35235990_115107733)x1-2	P	NLB, follow-up to 8 months showed no abnormality
9	29	27	None	cfDNA: LR	arr [GRCh37] 9p24.3p13.1 (208454_38772005)x3	P	TOP
10	29	24	bilateral superior vena cava, ductus venosus agenesis, enlarged inferior vena cava, enlarged right heart, pericardial effusion	MSS: LR	arr [GRCh37] 22q11.21 (18648856_21800471)x1	P	TOP
11	36	18	None	cfDNA: LR	arr [GRCh37] 9q31.2q33.2 (110873766_125177344)x1	P	TOP
12	32	18	NT 4.8 mm	None	arr [GRCh37] 16p11.2 (29428532_30176508)x1	LP	TOP
13	32	18	None	None	arr [GRCh37] 16p11.2 (28748617_29051191)x1	LP	TOP
14	30	27	polyhydramnios	cfDNA: LR	arr [GRCh37] 16p11.2 (29428532_30178406)x3	LP	NLB, follow-up to 24 months showed no abnormality
15	29	25	echogenic intracardiac focus, left aortic arch, aberrant right subclavian artery	MSS: LR	arr [CRCh37] 1q44 (224817841_246711631)x1	LP	Postnatal death
16	32	19	thickened NF, cystic hygroma of the neck, VSD	None	arr [CRCh37] 10q24.31q24.32 (102979827_103370322)x3	LP	TOP
17	38	26	polyhydramnios	cfDNA: LR	arr [GRCh37] 17p12 (14060292_15484335)x1	LP	NLB, follow-up to 7 months showed no abnormality
18	30	26	None	cfDNA: LR	arr [GRCh37] 17p12 (14060292_15513053)x1	LP	TOP
19	30	17	None	None	arr [CRCh37]1q21.1q21.2 (145390102_147844778)x3	LP	NLB, follow-up to 9 months with asymptomatic ASD

MA, maternal age; GA, gestational age; MSS, maternal serological screening; NT, nuchal translucency; cfDNA, cell-free DNA; LR, low risk; HR, high risk; SUA, single umbilical artery; PLSVC, permanent left superior vena cava; TCD, transverse cerebellum diameter; NF, nuchal fold; VSD, ventricular septal defect; ASD, atrial septal defect; ARSA, aberrant right subclavian artery; P, pathogenic; LP, likely pathogenic; TOP, termination of pregnancy; NLB, normal life birth.