TABLE 1. Clinical Indications at the Time of Referral and Detection Rates for Clinically Significant CNV.
| Clinical Indications at the Time of the Referrala |
Cases (N = 638), n |
Clinically Significant CNVs (N = 109), n |
Overall Detection Rate (17.1%), % |
|---|---|---|---|
| Possible chromosomal abnormalities ± othersb |
21 | 14 | 66.7 |
| Ambiguous genitalia ± others | 12 | 4 | 33.3 |
| Ambiguous genitalia alone | 7 | 3 | 42.9 |
| Ambiguous genitalia ± others | 5 | 1 | 20.0 |
| MCA ± others | 179 | 32 | 17.9 |
| MCA + CHD | 7 | 2 | 28.6 |
| MCA + DFs ± others | 59 | 16 | 27.1 |
| MCA alone | 97 | 14 | 14.4 |
| MCA + others (excluding CHD or DFs) |
16 | 0 | 0.0 |
| DFs ± others (excluding MCA) | 138 | 34 | 24.6 |
| DFs alone | 81 | 19 | 23.5 |
| DFs + others | 57 | 15 | 26.3 |
| CHD ± others | 101 | 22 | 21.8 |
| Others also including following subgroups |
295 | 28 | 9.5 |
| Respiratory distress disorder | 9 | 2 | 22.2 |
| Possible syndrome | 24 | 5 | 20.8 |
| Heterotaxy | 6 | 1 | 16.7 |
| Failure to thrive, gastrointestinal or renal anomalies |
44 | 6 | 13.6 |
| Neuromuscular | 85 | 9 | 10.6 |
| Intrauterine growth retardation or premature |
21 | 2 | 9.5 |
| Hydrops | 13 | 1 | 7.7 |
| Cleft lip/palate | 21 | 1 | 4.8 |
| No indications | 24 | 1 | 4.2 |
| Seizure disorder | 19 | 0 | 0.0 |
| Congenital diaphragmatic hernia |
11 | 0 | 0.0 |
| Skeletal | 13 | 0 | 0.0 |
| Family history of chromosomal abnormality or DFs |
5 | 0 | 0.0 |
a
Patients who had ≥2 clinical indications were included in ≥2 groups in this table.
b
Broad spectrum of birth defects.