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Why should I have a non-invasive prenatal test (NIPT)?

Genetic screening in pregnancyDr Lionel Wu is a General Practitioner with extensive paediatric training. Drawing on his vast experience supporting new parents during pregnancy, he advocates the use of antenatal screening and prenatal testing.

Very often, pregnancy is a life-changing and emotional journey for parents, especially young couples expecting their first child. So I personally take great satisfaction in helping them navigate through this journey. I see my role as being their first port of call, in a medical sense – someone who is there to guide them every step of the way. As they sit in my office, and the news is confirmed, I congratulate them, I let them enjoy the moment, and then together we begin to plan.

We see quite a lot of young families at Medifirst Family Clinic. In fact, they make up about 80 per cent of our patient list.

Managing the pregnancy together

For the first-time mum, I begin with an overview of how we will manage the pregnancy together. This includes a timeframe of when to undertake all the different tests and procedures, including the ultrasound.

It’s at this point that I will advise screening for common chromosomal abnormalities like Down syndrome and 22q11.2 with a non-invasive prenatal test (NIPT). I always tell my patients that tests like these are optional, and not compulsory. Then, we go through the pros and cons. I encourage them to discuss prenatal testing with their partner and whether it is something they would like to proceed with.

I am a big believer in being prepared. For example, for any patient that comes to our clinic, we will check their blood pressure and their cholesterol – so we can identify their heart attack risk. Then, if it is high, we will work together to plan, to prepare, and if possible find a solution. It’s the same with pregnancy. It’s always good to know what the possibilities may be, and that is why I recommend NIPT to every single mother – without exception. And, in my experience, 9 out of 10 want to have the NIPT. If cost is an issue, I will suggest the traditional test, which involves a blood test and an ultrasound. It is one third the price, but is less accurate than NIPT.

NIPT and high-risk results

Generally, most mums will have a low-risk result. But what if the test is positive? That’s when I explain to my patient that this is the very reason we undertake the test – so that they have the opportunity for professional genetic counselling and guidance through the options available. It allows an opportunity for us to plan our next step, to consider what we are going to do. At this point I remind the parents that this is about putting them in the best position to plan for the future and not necessarily about ending the pregnancy.

That is why I think prenatal testing represents another way of offering assurance to patients. When medical professionals think about the benefits of antenatal screening, we often think of words like “monitoring” and “detection”. But I often use words such as “awareness” and “preparation”. Every pregnancy, every birth is a miracle. Parents want to be assured that everything will be OK. NIPTs keep them informed. The tests are not just to detect the risk of common chromosomal abnormalities like Down syndrome, but to also give parents an awareness – an understanding of what future difficulties and challenges there could be for their new family. This prepares them and makes them emotionally ready for their baby’s birth.

Then the focus can turn to education and planning. It’s important they know there are interventions in place; help is available. Tests like Harmony allow issues to be detected early on and give parents time to plan their decisions. For patients with a high probability or inconclusive NIPT result it’s always helpful to use the free counselling service and I believe that Clinical Labs offers very good genetic counselling.

Ongoing GP involvement

As a GP, I want to be involved in the patient’s journey from the start of their pregnancy to the end. So, if a test reveals a patient has a ‘high-risk’ and they are subsequently referred to genetic counselling, my involvement continues and, in many respects, takes on a far more proactive role.

In the event of a miscarriage, for example, after informing the patients of the results, I let them have time to grieve, and then I invite them back, when they are ready, for more testing – another scan, another blood test – to make sure they are physically and, more importantly, emotionally ready. Then, together, we plan their next pregnancy.

 – Article written by Dr Lionel Wu MBBS (Hons), BMed.Sci, DCH (SYD), FRACGP

Dr Lionel WuOn completion of his studies as a General Practitioner Dr Lionel Wu undertook Paediatric training with Westmead’s Children’s Hospital in Sydney where he was awarded the Graduate Diploma in Child Health in 2007.

In 2016 Dr Wu set-up Medifirst Family Clinic and won Australian Clinic of the Year from Health Engine. His clinic takes pride in giving the upmost attention to each patient and building strong doctor-patient relationships.

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This blog post is sponsored by Australian Clinical Labs

To find out more about the NIPT offered by Clinical Labs (Harmony) as well as our other Antenatal tests, please visit antenatal.clinicallabs.com.au/patient/harmony

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