Down syndrome

Background:

• Explanation of DS – learning difficulties, higher incidence of heart/GI/thyroid problems

• Explanation of diagnosing before birth – screening vs diagnostic tests (for high risk >1/250)

• Screening tests – NT scan, blood tests (between 11-13 weeks)

• Diagnostic tests – amniotic fluid (1% miscarriage, 15 weeks), sample from placenta (2% but can be done earlier – 11-13weeks)

• Approximate risk

  • 30yo -> 1 in 1000

  • 35yo -> 1 in 300

  • 40yo -> 1 in 100

Data gathering

• HPC – Number of pregnancies – outcomes of previous ones

• SH – job, support at home

• FH – family with DS

CM

• Investigations – await screening tests

• Explanation of DS

• Followup – after screening, PIL