Do Genetic screening or not?

[Yummymomsie]

Hi Mumsneters,
I am a first-time mom to be due in n dec and my Obs/Gynae talked to me about genetic screening for chromosomal abnormalities as I am 35 and apparently high risk. I am going back in today to discuss my options. What are your experiences/views on this? Many thanks!

@Yummymomsie How far along in your pregnancy are you and which test are you talking about because some carry a bigger risk of miscarriage than others.
Have you already had the Nuchal test? Apart from your age, what are the other risk factors?

The main thing to consider however is what would you do with the results? Where do you set the bar? Would you terminate or is it something absolutely impossible for you to go through? And if yes, which anomaly or which mutation?

Go in today, listen to everything they say but don't be rushed into making a decision on the spot. Tell them you want to talk with your partner.

Ask:

1. which test?
2. what risks ?
3. Are the risks worth it? For example Chorionic villus sampling (CVS) has a miscarriage risk of 1%, if you are 35, your risk of Down syndrome is 353, so you have a far greater risk of miscarrying than having down syndrome.
4. what are their reason for recommending that specific test for you?
5. are there alternative test?

Also consider if it was easy or difficult for you to fall pregnant, your health, family history.

I lost a baby boy due to the amniocentesis. I was unlucky enough to be the 1% in the statistic many years ago. It was very traumatic and far more difficult to overcome as I knew it was avoidable. The worst was when I received the result in the mail 3 weeks later that it was a healthy boy.

What test have you been offered and why? CVS is only possible up to 14 weeks. After that it’s Amniocentises. So if you would keep the baby anyway, you could do that test after 30 weeks so instead of a risk of miscarriage you just have a risk of early labour.

Another alternative is paying for private harmony type tests (there are more of them depending on the conditions you want to test) — they are more accurate for a negative result than the NHS tests, so if you get a low risk result chances are it really is low risk.

@LiliesAndChocolate, firstly am really sorry to hear about your awful experience with amniocentesis...how very sad that you lost your precious baby in the process:(( I cried reading your message and I hope you find some comfort in knowing it has really helped me to think about my decision.
So I am only 10 wks along and the doctor offered me the initial screening (blood test) to check for any risk of chromosomal abnormality in the baby’s DNA. This is apparently possible to do as early as now (I am using private medical insurance). I have no known risks in mine or DH’s family a part from being 35 and first time pregnant. Hopefully nothing to worry about but if there’s (god forbid) then we will defo consider any risks involved with the recommended procedures and make an informed choice.
Thanks so much again for replying and sharing your valuable experience. Best wishes x

@TeddyBear45, thanks so this is just the beginning initial genetic screening based on the dna from my blood sample to asses the risks. I am only 10wks on. We will see what comes back and assess the risks involved in whatever procedures are recommended. But I wanted to know what people’s experiences of these things are...
Thanks for getting back x

Sounds like NIPT - harmony, Iona or Lucina (or other brand) test. As it is a blood test, it does not carry the risks CVS or amino does.

Hi OP - this is a good website to take a look at: www.arc-uk.org as it explains a lot about the different tests as well as things to think about/ questions to ask.

I did my own research and had the Harmony test. I don't know where you're based but a lot of the stats quoted for diagnostic testing is from old data. If you end up going down that route then I'd recommend the Emily Oster book, Expecting Better.

Hi yummymomsie

I've just booked mine as I'm also 35 with first pregnancy

I'm taking the panorama test for £395 and is an ultrasound scan and blood tests.

www.mums.me.uk/ultrasound-scans/nipt-harmony-test/

These tests can be used to detect the three most common chromosomal abnormalities – Down’s, Edwards’ and Patau’s syndrome.

Let me know where you're being tested at and how much is it costing? X