TABLE 2.
The diagnostic yield rates in our cohort subdivided into major categories, the diagnostic yields after Noonan syndrome and cystic fibrosis are excluded and overall potential diagnostic yield of prenatal WES (after exclusion of imprinting disorders)
| Category of ultrasound anomalies | Overall DY | Overall without Noonan/CF cases | Overall potential DY of WES if applied instead of targeted testing | |||||
|---|---|---|---|---|---|---|---|---|
| N | DY rate; % (95% CI) | No. of Noonan and CF cases | n | DY rate; % (95% CI) | No. of Silver‐Russell cases a | n | DY rate; % (95% CI) | |
| (1) ISS | 42/251 | 16.7% (12.6%‐21.8%) | 11 | 31/240 | 12.9% (9.3%‐17.8%) | 1 | 41/251 | 16.3% (12.3%‐21.4%) |
| (2) MA | 6/26 | 23.1% (11.0%‐42.1%) | 1 | 5/25 | 20.0% (8.9%‐39.1%) | 1 | 5/26 | 19.2% (8.5%‐37.9%) |
| (3) MSA | 27/93 | 29.0% (20.8%‐38.9%) | 3 | 24/90 | 26.7% (18.6%‐36.6%) | 1 | 26/93 | 28.0% (19.9%‐37.8%) |
| (4) SM | 1/21 | 4.8% (0.8%‐22.7%) | 1 | 0/20 | 0.0% (0.0%‐16.1%) | 0 | 1/21 | 4.8% (0.8%‐22.7%) |
| All cases | 76/391 | 19.4% (15.8%‐23.6%) | 16 | 60/375 | 16.0% (12.6%‐20.1%) | 3 | 73/391 | 18.7% (15.1%‐22.8%) |
Abbreviations: CF, cystic fibrosis; CI, confidence interval; DY, diagnostic yield; ISS, (isolated) single system anomalies; MA, multiple anomalies (1 system + soft marker in another organ system); MSA, multiple system anomalies; SM, soft marker(s) only; WES, whole exome sequencing.
a
Cases of abnormal methylation would still remain undetected if prenatal WES was implemented.