Description of samples included in the NTD genomic screen analysis
| Participants | Broad phenotype criteria* (n = 44 families) | Narrow phenotype criteria† (n = 17 families) | ||
|---|---|---|---|---|
| *Includes families with at least two affected individuals with any type of NTD; all individuals with an NTD coded as affected. †Families having at least two affected individuals with lumbosacral myelomeningocele; only individuals with lumbosacral myelomeningocele coded as affected. “Multiplex by history” pedigrees are also included. | ||||
| Total no. of sampled individuals | 292 | 123 | ||
| Sampled affected individuals | 89 | 34 | ||
| Sampled male participants | 138 | 59 | ||
| Sampled female participants | 154 | 64 | ||
| Affected sibling pairs | 21 | 9 | ||
| Affected half sibling pairs | 2 | 0 | ||
| Affected avuncular pairs | 12 | 3 | ||
| Affected first cousin pairs | 11 | 4 | ||
| Affected second cousin pairs | 2 | 2 | ||
| Affected relative pairs >2nd degree | 20 | 6 | ||