nasal bone worry amnio offered low risk nipt

[aggywaggy]

As the title says really -
I had 20 week scan and all the measurements were fine except the baby's hand was in front of it's face so couldn't get a nasal bone measurement.

I'd had screening tests at 12 week scan and which came back as a high risk due to my age and high hcg.

Was offered NIPT which came back as low risk so thought i was all clear.

Consultant today says everything else looks fine except to the nasal bone measurement. Offered me amniocentesis if I want it but in two minds. Obviously I want to alleviate any worry but also is it really necessary if the NIPT came back low risk?

What would others do?

Thanks!

We had lots of private scans to look out for our baby’s nasal bone as it wasn’t spotted in our usual NHS scans.. I remember it was detected at around 29 weeks and the sonographer high fived me. My baby was also high risk but for Trisomy 21, 13 and Williams.

We had the Harmony test as well which gave us some peace.

We had about 5 private baby scans for this exact reason…

DS was born healthy without any of the above. He is 10 now and a dinky button nose.

Best wishes x

Have they offered you another scan?
Amnio isn't risk free

they've offered me another scan in 28 weeks and informed me about the amnio risk.

I’d wait for the next scan. NIPT is quite an invasive test and they separate the chromosomes so it’s like 98% accurate. Amnio carries a risk

I wouldn't have amnio if the NIPT said low risk. There's a chance of miscarriage.

NIPT is a maternal blood test, it’s only invasive in terms of the needle in the arm.

I meant invasive as in the terms of how they study the bloods. It takes them 3 days to study one sample of blood

Just thought I would update this thread. Thanks to everyone who commented. I initially paid for another anomaly scan which was done privately. The sonographer was super patient and knowledgeable but confirmed no nasal bone. I then called my midwife who said that the negative NIPT I’d had was very accurate and could be relied upon but she kindly referred me to the Fetal Medicine Research Unit at Kings who saw me a couple of days later. I really cannot fault the Unit, the speed at which they saw me, the professionalism and kindness of the doctors and the treatment. They confirmed that the nasal bone was there but it was very small, indicating hypoplasia. They said the only way to know for sure was to undertake an amniocentesis which they offered to do there and then, given my anxiety levels were high I decided to have it done and although it was uncomfortable, it was fine.
I got the results about 3 working days later and they confirmed a healthy baby free of all the trisomies. Now 23 weeks, really enjoying my pregnancy and looking fwd to meeting our little one.

So pleased for you @aggywaggy enjoy your pregnancy x