Overview
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 associated 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:
- Aetiology
- 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
The baby should have all the routine neonatal examination , and screening as for any baby , but also focussing on issues that are more commonly found in Down syndrome, such as cataracts , and hearing concerns. In addition, screening for congenital heart disease should be arranged , and a full blood count to look for transient abnormal myelopoesis . Details of all of these can be found in the DSMIG Guidance for surveillance in the neonatal period .
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.
Updated Dr Liz Marder 2025
DSMIG Guidance
PCHR Personal Child health Record insert for babies with Down syndrome
DSMIG 2020
DSMIG Guidance for surveillance in the neonatal period (2018)
Presentations at DSMIG Meetings
Delivering the News – Parental Experiences of Post natal diagnosis
Fiona McGrane, Clinical Nurse Specialist in Down Syndrome, Children’s Health Ireland, Tallaght University Hospital, Dublin
Presentation at DSMIG Winter meeting , London 2023
Additional Resources
Down’s syndrome association (England , Wales and N.Ireland)
Information for New Parents
Early Support Programme Materials – Down Syndrome
Information about Down Syndrome for parents and carers
Antenatal, Neonatal and Postnatal Care: Guide for Practitioners
Information and Support for Maternity Professionals
Down’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