Table 5 Ultrasound findings, clinical characteristics and CNV descriptions for the 11 CHD fetuses carrying 16p11.2 recurrent deletion or duplication
Case | Maternal age (years) | History | Gestation at diagnosis (weeks) | Cardiac defects | Extracardiac malformations | Soft markers | CNV state | Genomic coordinates | Size (Mb) | Origin | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 24 | G1P0 | 26 | AVSD | Findings after birth: congenital hypothyroidism | NF | Del | 29,591,078–30177916 | 0.59 | Dn | Live birth |
2 | 35 | G4P2 | 32 | ASD, COA | - | PLSVC | Del | 29,567,295–30,178,406 | 0.61 | Dn | Live birth |
3 | 28 | G2P1 | 26 | VSD, COA | Findings after birth: Hand polydactyly (left), absence of metacarpophalangeal joint (left), talipes equinovarus (left) | - | Del | 29,432,212–30,240,227 | 0.81 | Unk | Live birth |
4 | 38 | G2P1 | 25 | PVS | – | – | Del | 29,567,295–30,177,999 | 0.61 | Dn | TOP |
5 | 31 | G3P1 | 25 | TOF | – | RAA | Del | 28,340,569–30177999 | 1.84 | Dn | TOP |
6 | 35 | G2P1 | 21 | AVSD | Findings after birth: Hirschsprung, Gastric pyloric stenosis | – | Del | 29,567,295–30,190,029 | 0.62 | Dn | Live birth |
7 | 29 | G1P0 | 23 | SV, PVS, d-TGA, PAVPR | – | – | Del | 29,567,296–30,190,029 | 0.62 | Dn | TOP |
8 | 29 | G2P0 | 24 | VSD | FGR | PLSVC | Del | 29,428,531–30,190,029 | 0.76 | Unk | Live birth |
9 | 25 | G1P0 | 22 | PA | FGR, hydropericardium | – | Del | 29,342,193–30,350,748 | 1.01 | Dn | TOP |
10 | 34 | G2P1 | 23 | Dextrocardia, ASD, VSD, PVS, DORV | Asplenia, abnormal position of gastric vesicles and liver | – | Del | 29,591,327–30,190,029 | 0.60 | Dn | TOP |
11 | 36 | G1P0 | 19 | PA | – | – | Dup | 29,597,823–30,177,240 | 0.58 | Dn | TOP |