ID Age(years) Gestational age(weeks) Phenotype by ultrasound Result by WES
1 31 22+2 Fetal vertebral fusion Negative
2 28 25 HL<-3.2SD,FL<-2.1SD; both femurs are slightly curved Positive
3 28 23 Fetal punctate achondroplasia Negative
4 35 26 Fetal Multi-finger Negative
5 25 24 Curved fetal osteogenesis Positive
6 26 21 Poor skull development, nasal bones not shown, poor ossification of the lumbar vertebral body of the spine, poor ossification of the sacral caudal vertebral arch and vertebral body Positive
7 32 33 HL<-5.9SD,FL<-5.9SD;metaphyseal enlargement Positive
8 30 21 Right femur slightly curved Negative
9 30 24 The long bones of the limbs are obviously short, the alveolar bone is flat, and the chest and abdomen are notched Negative
10 28 27+4 HL<-4.0SD,FL<-4.0SD;femur slightly curved Negative
11 31 26+1 Fetal nasal and jaw abnormalities Positive
12 18 25+3 BPD>+2.0SD;fetal bilateral ventricular widening Negative
13 27 30+6 FL<-3.4SD,HL<-2.8SD Negative
14 26 31 BPD>+2.0SD,FL<-4.0SD,HL<-4.0SD Positive
15 30 29 The fetus is greater than 3 weeks of the gestational week, and the femurs are slightly curved Negative
16 28 25+2 FL<-2.0SD,HL<-2.0SD; both femurs are slightly curved Positive
17 34 26+5 FL<-3.9SD,HL<-4.3SD; uneven ossification of some vertebral bodies Positive
18 27 27+4 FL<-3.0SD,HL<-3.0SD Negative
19 28 27+5 BPD>+2.0SD,FL<-4.0SD,HL<-4.0SD Positive
20 26 27 FL<-2.0SD,HL<-2.0SD Negative
21 29 18+5 Fetal limbs slightly curved Positive
22 16 20 FL<-4.9SD,HL<-4.7SD Negative
23 32 32 Fetal limbs are short Positive
24 25 30+2 FL<-3.0SD, Single umbilical artery Positive
25 23 27 HL<-2.6SD,HC<-2.8SD Positive
26 37 25+5 AC<-2.0SD,HL<-2.0SD,FL<-2.0SD Negative
27 20 31 FL<-3.12SD,HL<-3.12SD Negative
28 29 24+6 Short limb development Positive
29 25 30+6 HL<-2.9SD,FL<-2.9SD Negative
30 32 25 FL<-6.0SD Positive
31 28 28 FL<-2.7SD,HL<-3.9SD Negative
32 33 32 BPD>+3.7SD, HC>+2.8SD,AC>+3.3SD Negative
33 25 27+2 FL<-3.0SD,HL<-3.0SD Negative
34 30 26+4 BPD>+5.0SD, Negative
35 25 23+4 Fetal short femur Negative
36 27 26 Split vertebra of fetal half vertebra, bilateral valgus, abnormal posture of both feet and hands Negative
37 30 33+4 FL<-2.0SD Negative
38 26 35+3 BPD<-5.0SD Negative
39 23 27+4 BPD<-3.0SD,HC<-2.0SD Negative
40 30 33+3 FL<-3.0SD,HL<-2.0SD Positive
41 30 26+2 Bilateral foot varus Negative
42 31 31 BPD<-2.75SD Negative
43 28 30 HC>+2.5SD Negative
44 26 27 HC<-2.0SD,AC<-2.0SD,HL<-2.0SD,FL<-3.0SD Negative
45 38 26 FL<-2.0SD,HL<-2.0SD, nose bones not shown Positive
46 29 23+2 Multi-finger Negative
47 31 24 Right foot inversion Negative
48 34 33 HL<-2.9SD,FL<-3.5SD Negative
49 27 23+6 Bilateral foot varus,cervical thoracic spine bends backward Positive
50 23 19+1 FL<-3.0SD, The femur is slightly curved and the long bone is dysplastic Positive
51 27 22+5 FL<-4.0SD,HL<-3.7SD Negative
52 35 30+5 BPD<-3.0SD,HC<-2.0SD Negative
53 30 25+5 Multiple vertebral ossification Negative
54 33 26+3 Skull halo is not regular, bilateral temporal bones are slightly depressed,HC<-2.0SD,AC<-2.0SD,FL<-3.0SD,HL<-3.0SD Negative
55 26 25 Dysplasia of fourth and fifth toes of right foot Negative
56 28 25+5 FL<-3.0SD,HL<-2.9SD Negative
57 26 33 AC<-2.4SD,FL<-3.9SD,HL<-4.1SD Negative
58 27 27 FL<-4.0SD Negative
59 29 32 BPD<-4.0SD,HC<-3.0SD,AC<-2.0SD,FL<-2.0SD Negative
60 31 23+1 Nose root is flat, nose frontal angle is enlarged, nose and lip angles are acute, nose tip is drooping, upper alveolar bone curvature is abnormal Negative
61 32 26+3 Spinal cone low Negative
62 31 18+2 BPD<-3.3SD,FL<-5.0SD Negative
63 27 30+4 FL<-3.0SD,HL<-3.0SD Negative
64 42 27 BPD<-2.5SD,FL<-4.0SD Negative
65 15 24+5 Multi-finger Negative
66 28 23 Multi-finger Negative
67 23 23 HC<-2.0SD,HL<-8.0SD,FL<-5.0SD;Abnormal ossification of both humerus and femur, poor ossification of cervical vertebra Positive
68 30 24+3 Bilateral foot varus Negative
69 36 23+5 BPD<-2.0SD,AC<-3.0SD,FL<-5.0SD Negative
70 29 23 FL<-8.0SD,HC<-4.9SD Negative
71 29 23 L1 half cone, T11 split vertebra Negative
72 29 30+3 FL<-4.0SD,HL<-2.0SD Positive
73 30 26 Nasal bone dysplasia Positive
74 29 31+1 Fusion vertebra Negative
75 31 28 BPD<-3.2SD,HC<-2.5SD Negative
76 29 24+3 Bilateral foot varus,Abnormal hand posture Positive
77 21 27 Fingers merge, toes merge, temporal depression. Pregnant women also have finger merge and toe merge Positive
78 41 31 FL<-3.69SD Negative
79 26 30 HC>+2.4SD,AC<-0.34SD,FL<-4.2SD Positive