TABLE 3.
Malformations in offspring with Fanconi anemia and mothers’ pregnancy events
| Fetal malformations | Total number |
Pregnancy complication |
SGA | Preterm birth |
Cesarean | Surgery at birth |
|---|---|---|---|---|---|---|
| No malformations | 38 | 3 | 9 | 1 | 5 | 0 |
| Malformation affecting 1 organ | 7 | 1 | 2 | 1 | 1 | 0 |
| Radial raya (n=4); kidney (n=2); cardiac (n=1) | ||||||
| Malformations affecting 2 organs | 13 | 3 | 9 | 3 | 3 | 2 |
| Radial ray + kidney (n=9, or + cardiac (n=2), or + GI (n=1) | ||||||
| Cardiac + upper GI (n=1) | ||||||
| Malformations affecting ≥3 systemsb | 13 | |||||
| Radial ray + kidney + brain (n=5) | 3 | 3 | 1 | 3 | 2 | |
| Radial ray + kidney + GI (n=2) | 0 | 1 | 0 | 0 | 2 | |
| Radial ray + kidney + GI + brain (n=1) | 1 | 0 | 1 | 0 | 1 | |
| Radial ray + kidney + cardiac + GI (n=2) | 2 | 1 | 1 | 2 | 2 | |
| Radial ray + cardiac + GI + brain (n=1) | 1 | 1 | 0 | 1 | 1 | |
| Radial ray + kidney + cardiac + GI + brain (n=2) | 2 | 2 | 0 | 2 | 2 |
GI, gastrointestinal malformations including anal atresia (n = 4), duodenal atresia (n = 1), jejunal atresia (n = 1), tracheoesophageal fistula (n = 1), and pyloric stenosis (n = 1).
a
Radial ray refers to malformation affecting thumb with or without radial bone (8 patients also had radial bone hypoplasia).
b
Malformations affecting three or more organ systems consistent with VACTERL-H phenotype (vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, renal, limb anomalies, and hydrocephalus).12