Non-Invasive Prenatal Testing (NIPT) 2

Introduction to project

We are piloting the introduction of non-invasive prenatal testing (NIPT) for pregnant people with a history of previous pregnancies with extra copies of chromosone 13, 18 or 21 and developing a training video resource for the antenatal screening midwives who will be ordering this testing.

What is the condition?  

Trisomies are extra chromosomes (the packages of genetic material in our cells).Having an extra chromosome 13, 18 or 21 causes Patau, Edward or Down syndrome, respectively.

What are we doing? 

We have assembled a group of key stakeholders, including screening midwives, genetic counsellors, NHS website curators and public health screening programme planners to identify pilot provider sites and develop a script for a professionally-produced training video.

What training is available?

The training video we are producing will be available via the GeNotes web platform, which supports mainstream clinicians in ordering genomic tests. It is a ‘just in time’ resource for clinicians to use in clinic.

Patient quotes

“Tthe NIPT is so invaluable for having the confidence to move forward with the pregnancy. It has alleviated my anxiety and has been a lifeline in this pregnancy to help me feel reassured.    We’re very lucky to have been able to have had the NIPT and very grateful.” (person with history of previous pregnancy with trisomy 18)

“Staff at your unit provided us with expert support and advice at an extremely difficult and heart-breaking time and without the NIPT I would have had continue with an extremely difficult pregnancy longer than necessary. It’s a vital service for people like me. The support from the staff that we had was absolutely sterling both during and after the NIPT.  We had absolute confidence in the clinical support and this, and the psychological support provided, helped us make these difficult decisions.” (person with history of previous pregnancy with trisomy 21)

Where can I find out more?

https://www.nhs.uk/pregnancy/your-pregnancy-care/screening-for-downs-edwards-pataus-syndrome/

https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/

https://www.gov.uk/government/publications/downs-syndrome-edwards-syndrome-and-pataus-syndrome-options-after-a-higher-chance-screening-result/your-choices-after-a-higher-chance-screening-result 

Who can I contact?

GMSAAdmin@uhb.nhs.uk