Whilst more diagnoses of Down syndrome are being made in the antenatal period usually the diagnosis is suspected at or soon after birth when physical features are noticed. An urgent karyotype should be requested in order to confirm trisomy 21 but sharing a likely diagnosis should not be delayed until chromosomal confirmation. Families require someone to explain the diagnosis who has sufficient knowledge and experience to be able to give an open and honest account of what can be expected, including health needs and other issues associate4d with having a child, and subsequently an adult with an intellectual disability. Initial discussions can influence how a family responds to their baby.
The following information should be shared:
- Likely developmental progress
- Immediate health concerns and any long term issues which seem appropriate
- Long-term screening
- Local resources and support groups
- Long-term prognosis and life expectancy
Families should leave the hospital knowing when they are next due to be seen in clinic and with contact information. The GP and Health Visitor should be informed. The parents should be given the special PCHR insert for babies born with Down syndrome including Down syndrome specific growth charts. Some parents find it helpful to be put in contact with another family with a child with Down syndrome.
Evidence based guidelines for surveillance in the neonatal period are in preparation.
New parent’s guide â€“ Downâ€™s syndrome association (England , Wales and N.Ireland)
Information about Down Syndrome for parents and carers
Information and Support for Maternity Professionals
Antenatal, Neonatal and Postnatal Care: Guide for Practitioners
Downâ€™s syndrome association (England , Wales and N.Ireland) 2015
‘Tell it right, start it right’ Down’s Syndrome Association(England , Wales and N.Ireland)
Training for staff in maternity services to ensure information is provided for parents in the most appropriate way at the time of diagnosis