Skip to main content

Table 2 Distribution of diagnosis across the anatomical systems of fetuses in the present cohort

From: Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

  Cases (trios) Double diagnosisa CNV Genetic variants Diagnostic rate (%)
Cardiac 265 3 30 38 26.79
Chest and respiratory tract 43 0 3 1 9.30
CNS 116 0 8 11 16.38
Facial 127 1 7 9 13.39
Gastrointestinal tract and AW 42 1 5 2 19.05
Genitourinary 94 0 6 7 13.83
Hydrops 31 2 3 3 25.81
Increased NT 20 0 3 4 35.00
Skeletal 94 3 9 27 41.49
Multisystem 127 0 25 16 32.28
Total 959 10 99 118 23.67
  1. Fetuses were counted once
  2. CNV copy number variation; CNS central nervous system; AW abdominal wall; NT nuchal translucency
  3. aDouble diagnosis: fetuses that were diagnosed harboring causative CNV and genetic variants (single nucleotide variants and small insertion or deletion)