Table 1 Summary of positive clinical cases.
Subject | Gestation age (weeks) | Maternal age (years) | Prenatal finding | Fetal fraction (%) | Screening results | Confirmation study and pregnancy outcome |
|---|---|---|---|---|---|---|
P1 | 27.6 | 42 | Abnormal heart development and pleural effusion | 6.2 | T21 | Confirmed by invasive testing |
P2 | 18.7 | 26 | Serum screening high risk | 6.5 | T21 | Confirmed by invasive testing |
P3 | 19.1 | 35 | NT: 3.9 mm | 6.9 | T21 | Confirmed by invasive testing, elective abortion |
P4 | 18.6 | 37 | No ultrasound abnormality | 13.0 | T21 | Confirmed by invasive testing, elective abortion |
P5 | 15.6 | 33 | NT: 4.8 mm, absent nasal bone | 10.3 | T21 | Confirmed by invasive testing |
P6 | 19.3 | 28 | NT: 2.6 mm | 13.3 | T21 | Confirmed by invasive testing, elective abortion |
P7 | 14.9 | 35 | No ultrasound abnormality | 8.9 | T21 | Confirmed by invasive testing |
P8 | 19.3 | 38 | No ultrasound abnormality | 8.5 | T21 | Confirmed by invasive testing |
P9 | 22.4 | 26 | No ultrasound abnormality | 9.5 | T21 | Confirmed by invasive testing, elective abortion |
P10 | 18.1 | 39 | No ultrasound abnormality | 11.9 | T21 | Confirmed by invasive testing, elective abortion |
P11 | 21.1 | 31 | Serum screening high risk | 19.3 | T21 | Confirmed by invasive testing |
P12 | 21.4 | 38 | No ultrasound abnormality | 15.3 | T21 | Confirmed by invasive testing, elective abortion |
P13 | 18.4 | 38 | No ultrasound abnormality | 19.2 | T21 | Confirmed by invasive testing, elective abortion |
P14 | 17.6 | 39 | No ultrasound abnormality | 10.4 | T21 | Confirmed by invasive testing, elective abortion |
P15 | 14.6 | 28 | NT: 4.0 mm | 8.3 | T21 | Confirmed by invasive testing, elective abortion |
P16 | 15.0 | 27 | NT: 3.7 mm | 9.1 | T21 | Confirmed by invasive testing, elective abortion |
P17 | 27.7 | 27 | Abnormal fetal heart development, right heart dominance, mild tricuspid regurgitation, and pericardial effusion | 18.8 | T21 | Confirmed by invasive testing |
P18 | 20.6 | 28 | NT: 2.8 mm | 12.3 | T21 | Confirmed by invasive testing |
P19 | 19.4 | 27 | Serum screening high risk | 14.7 | T21 | Confirmed by invasive testing |
P20 | 16.9 | 41 | No ultrasound abnormality | 16.4 | T21 | Confirmed by invasive testing, elective abortion |
P21 | 15.3 | 38 | No ultrasound abnormality | 11.4 | T21 | Confirmed by invasive testing |
P22 | 13.0 | 40 | NT: 5.8 mm | 9.6 | T21 | Confirmed by invasive testing, elective abortion |
P23 | 19.1 | 45 | Advanced maternal age | 15.6 | T21 | Confirmed by invasive testing, elective abortion |
P24 | 23.3 | 31 | Suspected atrioventricular septal defect with moderate atrioventricular valve regurgitation | 18.0 | T21 | Confirmed by invasive testing |
P25 | 19.3 | 23 | Serum screening high risk | 13.4 | T21 | Confirmed by invasive testing |
P26 | 19.9 | 26 | No ultrasound abnormality | 7.5 | T21 | Confirmed by invasive testing |
P27 | 18.0 | 36 | No ultrasound abnormality | 13.7 | T21 | Confirmed by invasive testing |
P28 | 13.0 | 37 | No ultrasound abnormality | 17.0 | T21 | Confirmed by invasive testing |
P29 | 18.0 | 37 | No ultrasound abnormality | 7.6 | T21 | Confirmed by invasive testing |
P30 | 16.3 | 38 | Advanced maternal age | 12.7 | T21 | Confirmed by invasive testing |
P31 | 21.0 | 40 | No ultrasound abnormality | 6.2 | T21 | Confirmed by invasive testing |
P32 | 14.4 | 38 | No ultrasound abnormality | 12.5 | T21 | Confirmed by invasive testing |
P33 | 24.1 | 33 | No ultrasound abnormality | 14.7 | T21 | Confirmed by invasive testing |
P34 | 13.7 | 39 | No ultrasound abnormality | 8.7 | T21 | Confirmed by invasive testing |
P35 | 22.0 | 31 | No ultrasound abnormality | 10.2 | T21 | Confirmed by invasive testing |
P36 | 13.1 | 37 | No ultrasound abnormality | 7.7 | T21 | Confirmed by invasive testing |
P37 | 12.9 | 33 | NT: 5.2 mm | 7.6 | T21 | Confirmed by invasive testing |
P38 | 23.0 | 31 | No ultrasound abnormality | 4.1 | T21 | Confirmed by invasive testing |
P39 | 17.4 | 41 | No ultrasound abnormality | 5.2 | T18 | Confirmed by invasive testing, elective abortion |
P40 | 14.1 | 38 | NT: 4.9 mm | 8.1 | T18 | Confirmed by invasive testing, elective abortion |
P41 | 18.4 | 35 | No ultrasound abnormality | 12.3 | T18 | Confirmed by invasive testing, elective abortion |
P42 | 18.4 | 36 | No ultrasound abnormality | 8.3 | T18 | Confirmed by invasive testing |
P43 | 20.0 | 38 | No ultrasound abnormality | 4.6 | T18 | Confirmed by invasive testing |
P44 | 13.3 | 33 | NT: 6.5 mm, fetal chest subcutaneous edema | 5.3 | T18 | Confirmed by invasive testing |
P45 | 15.1 | 33 | NT: 3.24 mm | 5.5 | T18 | Confirmed by invasive testing |
P46 | 16.3 | 37 | No ultrasound abnormality | 5.9 | T18 | Confirmed by invasive testing |
P47 | 18.0 | 25 | Growth restriction and umbilical hernia | 6.2 | T18 | Confirmed by invasive testing |
P48 | 15.9 | 36 | No ultrasound abnormality | 8.0 | T18 | Confirmed by invasive testing |
P49 | 19.1 | 40 | Advanced paternal age | 8.9 | T13 | Confirmed by invasive testing |
P50 | 13.9 | 41 | NT: 3.4 mm | 5.4 | T13 | Confirmed by invasive testing, elective abortion |
P51 | 18.1 | 29 | NT: 3.8 mm | 9.7 | T13 | Confirmed by invasive testing |
P52 | 22.0 | 31 | Unclear fetal transparent, upper lip malformation, and heart asymmetry | 10.0 | T13 | Confirmed by invasive testing |
P53 | 18.0 | 27 | NT: 3.0 mm | 7.9 | T13 | Confirmed by invasive testing |
P54 | 13.3 | 37 | NT: 4.4 mm, the inner diameter of the aorta significantly smaller than the pulmonary artery | 5.7 | T13 | Confirmed by invasive testing |
P55 | 23.9 | 22 | Tetralogy of Fallot, persistent left superior vena cava, and unclear display of arterial duct | 8.6 | 22q11.2 deletion | Confirmed by invasive testing, elective abortion |
P56 | 18.4 | 37 | Suspected ventricular septal defect | 11.6 | 22q11.2 deletion | Confirmed by invasive testing, liveborn |
P57 | 18.9 | 38 | No ultrasound abnormality | 8.3 | 22q11.2 deletion | Confirmed by invasive testing, elective abortion |
P58 | 25.0 | 28 | Large foramen ovale | 8.5 | 22q11.2 deletion | Confirmed by invasive testing |
P59 | 23.6 | 29 | Absence of echo in right hemisphere of cerebellum | 11.3 | 15q11.2q12.3 duplication | Confirmed by invasive testing |
P60 | 23.7 | 36 | Heart axis deviating to the left | 19.4 | 4p16.3p14 duplication | Confirmed by invasive testing, elective abortion |
P61 | 19.1 | 41 | No ultrasound abnormality | 4.3 | 15q11.2q13.1 deletion | Confirmed by invasive testing, elective abortion |
P62 | 27.0 | 32 | Lower fetal abdominal bowel echo enhancement | 20.0 | 15q11.2q13.1 deletion | Confirmed by invasive testing |
P63 | 26.3 | 38 | Thickened pulmonary valve with increased pulmonary flow velocity, mild pulmonary valve stenosis, and mild tricuspid regurgitation | 15.8 | PTPN11: c.1502 G > A, variant fraction: 8.6%, Noonan spectrum disorder | Confirmed by invasive testing |
P64 | 31.0 | 31 | Increased head circumference equivalent, lower limb malformation, and enlarged left renal pelvis | 30.9 | SOS1: c.1294T > C, variant fraction: 15.8%, Noonan spectrum disorder | Confirmed by invasive testing |
P65 | 28.1 | 38 | Short femur length | 17.0 | FGFR3: c.1138G > A, variant fraction: 7.0%, achondroplasia | Confirmed by invasive testing |
P66 | 16.4 | 34 | Low ossification of the skull, narrow thoracic cavity, short, long bones, and abnormal limbs | 14.3 | COL1A1: c.4332delC, variant fraction: 6.5%, osteogenesis imperfecta | Confirmed by invasive testing |
P67 | 26.0 | 30 | NT: 0.9 mm, femur length ~3 weeks behind gestation age | 14.7 | FGFR3: c.1138G > A, variant fraction: 8.0%, achondroplasia | Confirmed by invasive testing |
P68 | 13.0 | 32 | Micrognathia and abnormal heart | 15.1 | COL2A1: c.1597 C > T, variant fraction: 8%, type II collagen disorder | Confirmed by invasive testing |
P69 | 24.6 | 31 | Abnormal skull and bilateral fingers and toes | 15.6 | FGFR2: c.755 C > G, variant fraction: 8.3%, Apert syndrome | Confirmed by invasive testing |
P70 | 28.6 | 27 | Short and curved femur | 14.1 | COL1A2: c.3106 G > C, variant fraction: 9.1%, osteogenesis imperfecta | Confirmed by invasive testing |
