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Table 1 General data for 30 cases of fetal skeletal dysplasia, including chromosome information and microdeletion/microduplication test results

From: Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

No. Ultrasound results Gestation (weeks) Chromosome Micro-deletion/duplication results and significance
1 Right choroid plexus cyst and left foot inversion in the fetus 21 Trisomy 18  
2 Absence of radius in the upper limbs of the fetus, abnormal posture of both hands 20 Trisomy 18  
3 Continuously interrupted left upper lip, broken upper alveolar bone, possible small jaw, and absent fetal femur 25 46,XN No abnormalities
4 Spinal fissure (isopathology), gastroschisis, double lung dysplasia, bipedal varus, left foot polydactyly 25 46,XN arr Xq26.2(133,527,188-133,533,879)×1
There is a 6.6 Kb deletion in the Xq26.2 segment of the fetal X chromosome. This fragment spans exon 4 and exon 5 of the PHF6 gene and does not correlate well with the patient’s clinical phenotype.
5 Bending bilateral femur, tibia and fibula, fixed knee, internal crossed flexion, and fixed foot position 23 46,XN No abnormalities
6 Cleft lip and palate, right kidney cystic dysplasia, bilateral foot fissure, and syndactyly, partially absent fingers of both hands 25 46,XN No abnormalities
7 Fetal bilateral femoral angulation deformity, fetal heart ventricular septal defect 24 46,XN 46,XN,dup(7q11.21)(64,635,655-64,947,696) × 3,46,XN,del(11p11.12)(49,009,009-49,120,197) × 1,46,XN,del(17p12)(14,099,119-15,464,828) × 1
No clear pathogenic >100Kb microdeletions/microreplications
8 Right foot inversion, bilateral rocker bottom feet, scoliosis, spina bifida occulta 30 46,XN No abnormalities
9 Fetal scoliosis, fetal bipedal varus, ventricular septal defect 26 46,XN No abnormalities
10 Absence of bilateral ulna and radius, absence of bilateral humerus, foot inversion, abnormal wrist joints 24 46,XN arr 2q24.3(166,914,464-166,920,459)×1
There is a 5.9Kb deletion in chromosome 2q24.3 on chromosome 2, which is not associated with a clinical phenotype.
11 Absence of bilateral humerus and left foot 26 46,XN No abnormalities
12 Only two visible metacarpal bones on the left hand and part of distal phalanx on the lateral and medial sides 26 46,XN No abnormalities
13 Left foot inversion, absence of right lower limb 26 46,XN,21cenh+ arr 5q35.1(170,405,440-171,071,061)×3
There is a repeat of 665 Kb fragment in the 5q35.1 segment of fetus chromosome 5, which includes 4 OMIM genes such as NPM1. The correlation with clinical phenotype is not high.
14 Absence of fetal fibula, foot inversion, partial absence of phalanges, absence of fingers, hand cleft deformity 22 46,XN No abnormalities
15 Fetal sirenomelia 17 46,XN No abnormalities
16 Short limbs - incomplete osteogenesis? 23 46,XN No abnormalities
17 Short limbs - incomplete osteogenesis 22 46,XN No abnormalities
18 Short limbs 22 46,XN No abnormalities
19 Short fetus limbs: cartilage hypoplasia? 22 46,XN No abnormalities
20 Short limbs, spine and vertebral ossification are not obvious: cartilage hypoplasia? 16 46,XN No abnormalities
21 Short limbs, ventricular septal defect 15 46,XN No abnormalities
22 Abnormal long bones in fetal limbs, narrow chest 24 46,XN No abnormalities
23 Short fetal limbs (chronic dysgenesis) 25 46,XN No abnormalities
24 Short limbs (cartilage hypoplasia) 25 46,XN arr 19p13.2(11,135,293-11,139,948)x, There is a deletion of 4.6 Kb fragment in the 19p13.2 segment of chromosome 19 of the fetus and there is no correlation with the patient’s clinical phenotype.
25 Short limbs 21 46,XN No abnormalities
26 Short limbs 21 46,XN No abnormalities
27 Short limbs 27 46,XN 46,XN,dup(2p11.2)(87,384,213-87,862,105) × 3, Polymorphism
28 Short limbs 25 46,XN No abnormalities
29 Achondroplasia 15 46,XN No abnormalities
30 Uneven arrangement of fetal spine, short limbs, bilateral foot inversion, small mandibular, left ventricular punctate strong echo, ventricular septal defect 23 46,XN Both chromosomes 1 and 16 have microduplications. Dup(Xq27.1)(139,911,843-140,072,771) × (2~3)
  1. arr microarray, dup duplication, del deletion