Counselling about Down’s syndrome in pregnancy

Intro

• Wash hands, introduce self, check patient name and DOB, explain role/interview and gain consent

Check situation

• History of the current pregnancy
  • Was it planned?
  • When was the LMP? or How far along are you?
  • Are you wanting to keep the pregnancy?
  • Have there been any problems during this pregnancy so far e.g. bleeding, pain etc?
  • What is the social situation?
    • NB Ideally, the partner would also be present.  Check whether the partner is involved/supportive if not
    • Are you working?  Who’s at home with you?  (social support etc)
• At this point it would also be a good idea to take a full obstetric history (previous pregnancies) +/- gynaecological history (as appropriate)

Check understanding

• What do you know about Down’s syndrome and how it can be tested for?

Explain the tests

• If <14 weeks
  • Combined test
    • Nuchal translucency (more fluid between body and neck in DS)
      • Measured at scan
    • β-HCG (low in Down’s)
    • PAPP-a (Pregnancy associated plasma protein alpha)
    • Woman’s age
• If >15 weeks
  • Triple
    • Maternal AFP; unconjugated oestriol and β-HCG
  • Quadruple
    • +Inhibin A
• These are used to calculate the chance of having Down’s syndrome
  • If >1/250, this is ‘positive’
    • Further diagnostic tests used
      • ONLY if the patient is considering TOP (often risk of these procedures outweighs their benefits where this is not the case)
• Invasive tests
  • If <15 weeks- chorionic villous sampling (risk of abortion 2%)
  • If >15/16 weeks- amniocentesis (risk 1%)

Explain about Down’s

• People with Down’s syndrome often have characteristic appearance (e.g. low set ears and wide-set eyes); they also quite often have mild learning disabilities (although IQ is often >80).
• Also associated with some serious heart defects
  • May cause problems early or later in life
  • Can be treated surgically but often a large operation
• There is an increase in mortality in the first year of life (five times increased risk- NB STILL SMALL absolute risk of ~1%)
• Most will now live into late 50s-60s
• There are many services available to help with care (both health and social)
• Answer any questions the patient may have as they ask them.  Give time after chunks of information to do this.

Abortion/TOP and Down’s

• As with other TOPs, a reason must be specified.  In the case of possible Down’s pregnancy, the category is
  • “to prevent grave permanent injury to the physical or mental health of the pregnant woman”