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”

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