What it is
Sadly, many babies do not survive pregnancy or the first weeks of life. Some, especially with partial or mosaic forms, live longer.
There is no cure. Care focuses on comfort, feeding and support for the family, planned with specialists.
Common signs
- Heart problems
- Cleft lip and palate
- Small eyes or head
- Extra fingers or toes
- Problems with the brain and kidneys
- Low birth weight
How it is usually diagnosed
- Screening tests in pregnancy
- Diagnostic tests such as CVS or amniocentesis
- A blood test of the baby after birth
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Screening and genetic test results
- Pregnancy scan reports
- Specialist and palliative care letters
- Genetic counselling letters
Questions to ask your doctor
- What does this mean for our baby?
- What care and support are available?
- What is the chance of it happening in a future pregnancy?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- A baby who is struggling to breathe, turning blue or not feeding: call 112
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.