Table 1

Clinical features of six patients diagnosed with Beckwith-Wiedemann syndrome after ICSI and IVF therapy

Patient IDART historyClinical featuresGenetic investigations
1Twin 1 of dichorionic, diamniotic male twins conceived by ICSI (twin 2 was unaffected)Macroglossia, umbilical hernia, ear pits, facial naevus flammeus, neonatal hypoglycaemiaNormal chromosome analysis, UPD excluded, hypomethylation KvDMR1
2Male singleton pregnancy conceived by ICSIMacroglossia, umbilical hernia, unilateral inguinal hernia, birth weight 3515 g, postnatal weight >97th centile, naevus flammeus, single posterior helical pitNormal male karyotype, molecular genetic investigations not yet performed
3Singleton male infant conceived by ICSIMagroglossia, macrosomia (birth weight 4030 g, 137 cm cord), facial naevus flammeusNormal male karyotype, UPD excluded, hypomethylation KvDMR1
4IVF conception, non-identical twin pregnancy (twin unaffected)Macroglossia, macrosomia, hepatomegaly, ear lobe creases, facial naevus flammeusNormal male karyotype, UPD excluded,
5IVF conception, single pregnancyExomphalos, adrenal cytomegaly, nephromegaly. Died of prematurity related complications (born at 27 weeks’ conception)Normal chromosome analysis, UPD excluded
6IVF conception, twin 2 of monozygotic female twins. Twin 1 unaffectedMacroglossia, diastasis recti, neonatal hypoglycaemia, helical ear pits, hemihypertrophy, facial naevus flammeusNormal cytogenetic analysis, no molecular genetic results available