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Table 1 Abnormal ultrasound findings in pregnancies without confirmed high-risk expanded NIPT results

From: Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

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    T18 NA TOP
15    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  
  1. T21: Trisomy 21, T18: Trisomy 18, T13, Trisomy 13, NT: Nuchal translucency, NA: not available