Table 2.

Additional pathogenic or likely pathogenic CNVs identified by low-pass GS

Case ID	Gestational week	Primary indication#	Detailed clinical indication(s)*:	Low-Pass GS
16BA0152	16	DSS	High risk Down syndrome screen, and family history of thalassemia	seq[GRCh37] del(16)(p13.3) chr16:g.216271_235599del
16BA0064	28	AUS	Multiple congenital abnormalities, cardiomegaly, thickened myometrium, pericardial effusion, tricuspid regurgitation, abdominal and thoracic effusion	seq[GRCh37] del(16)(p13.3) chr16:g.216050_235599del
18BA0454	17	FHX	Family history of thalassemia	seq[GRCh37] del(16)(p13.3) chr16:g.216290_235599del
18BA0351	17	AMA	Previous pregnancy with chromosomal abnormality, advanced maternal age, and family history of thalassemia and cleft lip and palate in mother	seq[GRCh37] del(16)(p13.3) chr16:g.216050_229978del
18BA0145	18	FHX	Previous miscarriage and family history of thalassemia	seq[GRCh37] del(16)(p13.3) chr16:g.217556_231140del
18BA0425	17	FHX	Family history of thalassemia	seq[GRCh37] del(16)(p13.3) chr16:g.217215_231140del
18BA0218	21+6	FHX	Family history of thalassemia	seq[GRCh37] del(16)(p13.3) chr16:g.217215_231140del
17BA0605	23+4	AUS	Nuchal edema, echogenic bowel, pericardial effusion, oligohydramnios	seq[GRCh37] del(16)(p13.3) chr16:g.216530_235599del
18BA0115	26	AUS	Borderline risk for Down syndrome screen, structural abnormality	seq[GRCh37] del(16)(p13.3) chr16:g.216236_235599del
18BA0376	23	AUS	Cardiac structural abnormality	seq[GRCh37] del(16)(p13.3) chr16:g.217392_231140del
18BA0453	17	FHX	Family history of thalassemia	seq[GRCh37] del(16)(p13.3) chr16:g.216050_235599del
18BA0442	16	FHX	Family history of thalassemia	seq[GRCh37] del(16)(p13.3) chr16:g.217349_231140del
19C0339-W	21+4	AUS	Cardiomegaly, pericardial effusion, thickened myometrium, enlarged liver	seq[GRCh37] del(16)(p13.3) chr16:g.216149_235599del
19C0855-W	11+5	AUS	NT 4.75-mm, increased placental thickness, absent nasal bone	seq[GRCh37] del(16)(p13.3) chr16:g.216149_235599del
17C1244-A	13+5	DSS	Fetal anomalies: NT 3.3-mm, positive Down syndrome screen: Risk: 1:6, T18 & T13 positive	seq[GRCh37] del(5)(q23.3)mat chr5:g.127783782_128082258del
18BA0221	17+2	AUS	NT 3.5-mm	seq[GRCh37] del(X)(p21.1)mat chrX:g.32311051_32342286del
19C1149-W	12	AUS	NT 5.22-mm, high risk Down syndrome screen	seq[GRCh37] dup(8)(p21.2q24.3)dn chr8:g.23814437_146298884mos dup[0.3]

^*NT, nuchal translucency, -SEA, α0-thalassemia of southeast Asian deletion.

^#AUS: Abnormal Ultrasound; DSS: 1^st/2^nd trimester aneuploidy screening high risk; AMA: Advanced Maternal Age; FHX: Family history.