Clinical features of six patients diagnosed with Beckwith-Wiedemann syndrome after ICSI and IVF therapy
| Patient ID | ART history | Clinical features | Genetic investigations |
|---|---|---|---|
| 1 | Twin 1 of dichorionic, diamniotic male twins conceived by ICSI (twin 2 was unaffected) | Macroglossia, umbilical hernia, ear pits, facial naevus flammeus, neonatal hypoglycaemia | Normal chromosome analysis, UPD excluded, hypomethylation KvDMR1 |
| 2 | Male singleton pregnancy conceived by ICSI | Macroglossia, umbilical hernia, unilateral inguinal hernia, birth weight 3515 g, postnatal weight >97th centile, naevus flammeus, single posterior helical pit | Normal male karyotype, molecular genetic investigations not yet performed |
| 3 | Singleton male infant conceived by ICSI | Magroglossia, macrosomia (birth weight 4030 g, 137 cm cord), facial naevus flammeus | Normal male karyotype, UPD excluded, hypomethylation KvDMR1 |
| 4 | IVF conception, non-identical twin pregnancy (twin unaffected) | Macroglossia, macrosomia, hepatomegaly, ear lobe creases, facial naevus flammeus | Normal male karyotype, UPD excluded, |
| 5 | IVF conception, single pregnancy | Exomphalos, adrenal cytomegaly, nephromegaly. Died of prematurity related complications (born at 27 weeks’ conception) | Normal chromosome analysis, UPD excluded |
| 6 | IVF conception, twin 2 of monozygotic female twins. Twin 1 unaffected | Macroglossia, diastasis recti, neonatal hypoglycaemia, helical ear pits, hemihypertrophy, facial naevus flammeus | Normal cytogenetic analysis, no molecular genetic results available |