Table 1 Abnormal ultrasound findings in pregnancies without confirmed high-risk expanded NIPT results
CaseID | Age | Gestational week | Expanded NIPT result | Abnormal ultrasound result | Pregnancy outcome |
|---|---|---|---|---|---|
1 | 37 | 18w + 2 | T21 | (1) Nasal bone is not shown; (2) possible complete endocardial pad defect; (3) middle finger phalanx is not shown | TOP |
2 | 32 | 18w + 1 | T21 | Possible T21: (1) the middle phalanx of the left little finger is not shown, the phalanx in the right little finger is punctate calcification; (2) the ventricular septal defect (possible malformation); (3) the nasal bone dysplasia; (4) the flap angle is increased; (5) the right foot is changed similar to a "shoe foot" | TOP |
3 | 28 | 19w + 4 | T21 | Possible T21: (1) nasal bone is not shown; (2) Increased flap angle; (3) thickening of liver parenchyma; (4) widening of umbilical vein ventral section; (5) abdominal circumference, femoral diameter and humeral diameter are smaller normal than gestational age; 6) abnormal intracardiac structure | TOP |
4 | 36 | 17w + 4 | T21 | Possible T21: (1) nasal bone is not shown; (2) increased flap angle; (3) the little finger phalanx of the hands is not shown; (4) multiple echoes in the abdominal cavity; (5) abnormal intracardiac structure | TOP |
5 | 24 | 21w + 4 | T21 | Possible T21: (1) "double bubble sign" in the abdominal cavity; (2) fetal nasal bone loss; (3) liver echo thickening; (4) bilateral femur and tibia less than -2 standard deviations lower than normal for gestational age; (5) increased flap angle; (6) abnormal intracardiac structure | TOP |
6 | 34 | 19w + 3 | T21 | NA | TOP |
7 | 36 | 18 | T21 | NA | TOP |
8 | 39 | 12 | T21 | NA | TOP |
9 | 43 | 13 | T21 | NA | TOP |
10 | 30 | 18w + 6 | T18 | Possible T18: (1) the left cleft lip (degree III) and splitting; (2) ventricular septal defect; (3) possible right hand overlap; (4) "strawberry" head | TOP |
11 | 39 | 17w + 5 | T18 | Possible T18: (1) no-leaf full forebrain malformation; (2) fetal central cleft lip (degree III) with cleft palate; (3) nasal bone is not seen; (4) narrow eye distance; (5) middle finger phalanx of both hands is not shown; (6) abnormal cardiac structure | TOP |
12 | 35 | 14w + 6 | T13 | Possible T13: (1) forebrain noncracking malformation; (2) narrow eye distance; (3) strong echogenic plaque in bilateral eyeballs; (4) median cleft lip (class III), cleft palate; (5) slightly enhanced echogenicity of both kidney parenchyma; (6) abnormal intracardiac structure possible; (7) poor appetite filling; (8) multiple strong echogenic spots in the abdominal cavity | TOP |
13 | 40 | 19w + 3 | T13 | (1) Narrow eye distance, single nostril; (2) fetal intracardiac structural abnormalities; (3) multifinger after both hands; (4) enhanced bowel echo | TOP |
14 | Â | Â | T18 | NA | TOP |
15 | Â | Â | T18 | NA | TOP |
16 | 38 | 16 | T18 | NA | TOP |
17 | 38 | 17w + 1 | XXY | Fetal cleft lip and alveolar cleft | TOP |
18 | 43 | 13w + 1 | T13 | Intrauterine single fetus, NT 1.07 MM | TOP |
19 | 28 | 19w + 5 | XO | NA | TOP |
20 | 28 | 18w + 1 | XO | (1) Fetal femur diameter smaller than normal for gestational age; (2) fetal umbilical cord is wrapped around the neck |  |