Neonatal diagnosis of Down syndrome in the Netherlands: suspicion and communication with parents

Objectives To analyse which dysmorphic features are most recognised in newborns with Down syndrome (DS). Furthermore to evaluate the communication techniques used by clinicians to inform parents about the postnatal diagnosis and compare these to current best practice guidelines. Study design Prospective study of a birth cohort of newborns with DS born between 1 January 2003 and 31 December 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU). Results A total of 586 children with trisomy 21 were analysed. Most recognised dysmorphic features in DS newborns were ‘upslanted palpebral fissures’ (74.1%; n = 426), ‘hypotonia’ (73.7%; n = 424) and ‘epicanthic folds’ (68.5%; n = 394). The majority of parents were informed about the suspected diagnosis on the day of birth (76.5%; n = 390). Hospital deliveries had a significantly earlier suspected diagnosis (mean age 3–4 days) compared with home deliveries (mean age 7 days) (P