Non-Invasive Prenatal Testing

• What is Non-Invasive Prenatal Testing?
• What does NIPT screen for?
• If I get a positive result on a non-invasive test, does that mean my baby definitely has trisomy 18?
• If it is just a screening test, why am I paying £600 for it? Why not just have the normal NHS screening?
• Can a positive NIPT result be wrong?
• Can a negative NIPT result be wrong?
• My first baby had trisomy 18. Will the test detect my first baby's DNA in my blood, and does that make it more likely that I'll get a positive result?
• I'm having twins. Can I have NIPT?
• So I've decided to go ahead with NIPT, but Panorama, NIFTY, MaterniT21, Harmony... what's it all about?
• It is worth asking...

So you've had a previous pregnancy with trisomy 18, and you're pregnant again and considering testing options. Or maybe your baby has clinical features of trisomy 18 on ultrasound and you're wondering if you can avoid an amniocentesis by scheduling a non-invasive test. Or you've had a non-invasive test that came back as ‘positive’ for trisomy 18 and you want to know how accurate it is.

Either way, here is the low-down on non-invasive testing.

Rumer's Story, part 18

Palliative care is not more important!

Wednesday 1st to Thursday 2nd July 2015
26 to 27 weeks pregnant

So on Wednesday, we were at home together for most of the day. We called the Fetal Medicine Unit (FMU) and left a message for Elysia Crouch, our link midwife there, to chase up the neonatology appointment. After the cardiology appointment the previous day, we were keen to get on with things and find out where we stood with the hospital. We knew that what we were considering – active treatment – was not the norm in the UK, and after some initial enquiries around the trisomy groups, we hadn't heard of any babies with trisomy 18 who had received it. So we were apprehensive about the appointment, and anticipated at least some initial scepticism.

Rumer's Story, part 17

Cardiology appointment

Tuesday 30th June to Wednesday 1st July 2015
26 weeks pregnant

So on the Tuesday, we went to our second cardiology appointment. Recalling how Professor Marshall had been happy to consider surgical options even in the most dire of situations last time, we were hopeful that he would remain open to considering these and other relevant treatments. However, we also knew that offering active treatment for babies with trisomy 18 was not usual practice in the UK, and we weren't sure whether the diagnosis would change his approach.

Read beyond the headlines!

Which of these statements about trisomy 18 are backed up by research?

• Intervention improves survival to 1 year (Meyer et al 2015)
• Intensive (or aggressive) intervention does not improve neonatal survival (Subramaniam et al 2015)
• Infants with trisomy 13 survive longer than infants with trisomy 18 (Houlihan & O'Donaghue 2013)

Yes, I've given links to the research that apparently backs them up. However, when you read further into these studies, you realise that their conclusions are not in fact reliable.