GroupB-1 | GroupB − 2 | GroupB-3 | GroupB-4 | GroupB-5 | GroupC-1 | GroupC-2 | GroupC-3 | |
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Type | No.a | Type | No. | Type | No. | Type | No. | Type | No. | Type(A/B) | No. | Type(A/B) | No. | Type(A/B) | No. |
CPC | 36 | MM | 2†† | VSD + CPC | 3††† | FGR | 19†††‡‡‡‡ | PH | 9† | CPC/CPC | 6 | SD/CPC | 1‡ | FGR/FGR | 9††‡‡‡‡‡ |
PE | 19 | VSD | 3†‡‡ | VSD + AC + NT | 1† | FGR + CPC | 3 | SB | 1‡ | PE/PE | 2 | PEV + CD/CD | 1‡ | FGR + CPC/CPC | 1 |
VM | 8†‡‡‡‡ | VR | 1† | AC + VM | 1‡ | FGR + VM | 1‡ | SB + SUA | 1‡ | CPC/SUA | 2 | BM/FGR | 1† | FGR/CPC | 1‡ |
ARSA | 7††‡‡ | SPD | 1† | AC + PLSVC + PE | 1† | FGR + NT | 1† | LC | 2 | CPC/CPC + PE | 1 | AOLK/PEV | 1† | FGR + HI/ECM | 1 |
NT | 3‡‡‡ | EK | 1‡ | NT + PEV | 1† | FGR + SUA | 1 | ARA | 1 | CPC/PE | 1 | VSD/CPC + FGR | 1† | FGR + VM/ARSA | 1† |
SUA | 3 | PPD | 1‡ | | | FGR + SCD | 1† | NDC | 1 | CPC/DIVC | 1 | CD/SUA + FGR | 1‡ | FGR/SUA + PH | 1† |
HI | 2 | TOF | 1† | | | FGR + PH | 1‡ | CC | 1‡ | CPC/VM | 1‡ | DA/HI | 1‡ | FGR/PRUV | 1‡ |
NBA | 1‡ | MM + SB | 1† | | | FGR + HI + SB | 1‡ | | | ARSA/SB | 1‡ | PK/CPC | 1† | FGR/SEC | 1† |
PRUV | 1 | | | | | FGR + VM + SB | 1† | | | EIF/EIF | 1 | | | FGR/FGR + PH | 1† |
PLSVC | 1 | | | | | | | | | HI/HI | 1‡ | | | FGR + CPC/FGR | 2†‡ |
RAA | 1† | | | | | | | | | NBA/NBA | 1† | | | FGR/FGR + SB | 1† |
GD | 1† | | | | | | | | | NT/PE | 1† | | | CNPT/CNPT | 1 |
ECM | 1 | | | | | | | | | VM/VM | 1† | | | GE/NDC | 1 |
WCV | 1‡ | | | | | | | | | | | | | | |
AOVC | 1† | | | | | | | | | | | | | | |
SFL | 1 | | | | | | | | | | | | | | |
Total | 81 | | 11 | | 7 | | 29 | | 16 | | 20 | | 8 | | 22 |
RPD | 17 | | 11 | | 7 | | 13 | | 4 | | 6 | | 8 | | 16 |
APD | 6 | | 7 | | 6 | | 6 | | 1 | | 3 | | 4 | | 8 |
PDR | 35.3% | | 63.6% | | 85.7% | | 46.2% | | 25.0% | | 50.0% | | 50.0% | | 50.0% |
Results | 1VUS | | 3VUS | | N | | 1VUS | | N | | N | | N | | 2VUS |
- Group B: twin pregnancies with NIPT results indicating a low risk of abnormalities and USG findings for one of the twins; GB-1 (Group B-1): one of the twins had USMs; GB-2: one of the twins had a SM; GB-3: one of the twins had USMs and a SM; GB-4: one of the twins had FGR; GB-5: one of the twins had other abnormalities; Group C: twin pregnancies with NIPT results indicating a low risk of abnormalities and USG findings for both twins; GC-1 (Group C-1): at least one of the twins had USMs; GC-2: at least one of the twins had a SM; GC-3: at least one of the twins had FGR or other abnormalities
- AC: aortic coarctation; AOLK: absence of left kidney; AOVC: absence of venous catheters; ARA: accessory renal artery; ARSA: aberrant right subclavian artery; BM: brain malformation;
- CC: choledochal cyst; CD: cerebellum dysplasia; CNPT: cystic nodules posterior thalamus; CPC: choroid plexus cyst; DA: duodenal atresia; DIVC: double inferior vena cava; ECM: enlarged cisterna magna; EIF: echogenic intracardiac focus; EK: ectopic kidney; GD: gallbladder dysplasia; GE: gallbladder enlargement; HI: hyperechogenic intestine; LC: liver cyst; MM: multiple malformations; N: normal; NBA: nasal bone aplasia; NDC: nasolacrimal duct cyst; NT: increased nuchal translucency(95th˂NT˂3.0 mm); PE: pyelectasis; PEV: pes equinovarus; PH: polyhydramnios; PK: polycystic kidney; PLSVC: persistent left superior vena cava; PPD: preaxial polydactyly; PRUV: persistent right umbilical vein; RAA: right aortic arch; SB: stillbirth; SCD: scaphocephaly deformity; SD: spinal deformity; SEC: subependymal cyst; SFL: short femur length; SM: structural malformation; SPD: septum pellucidum dysplasia; SUA: single umbilical artery; TOF: tetralogy of fallot; USG: ultrasonographic; USM: ultrasonographic soft marker; VM: ventriculomegaly; VR: ventricular rhabdomyoma; VSD: ventricular septal defect; WCV: widened cavum vergae
- RPD: recommended prenatal diagnosis; APD: accepted prenatal diagnosis; PDR: prenatal diagnosis rate;VUS: variants of uncertain significance
- a: Two soft markers were found in the same fetus (6 cases): CPC + HI、CPC + PE(2 cases)、CPC + VM、CPC + NT、ARSA + PE
- †: prenatal diagnosis was recommended and performed
- ‡: prenatal diagnosis was recommended and not performed