Call back for Edwards and Patau's syndrome

[Sitchervice]

Hi I'm 28 and I got a ca back for the above syndromes.
Just wanted to know if anyone else has had this and what they did in the end?

If it's the first you're hearing about it I don't have personal experience but read that they will do more tests to confirm. It must be stressful to hear that. Hopefully, someone with knowledge will respond to your post x

Hi, my baby had patau syndrome, please feel free to message me if you need any advice x

@notinthestarsigns

They've told me I've got a 2% chance of my baby having it. I'm not sure if this is bad or not.

It's means there's a 98% chance baby hasn't got it.

You can ask / pay for additional testing, is it NIPT?? that's a blood test so baby isn't at risk

how far are you? Had anything shown up on the ultrasound?

How far along in your pregnancy are you OP?

With DS2 I took a Harmony Test around wk13 that is pretty accurate for Edward's & Patau's and Down's Syndrome. It will also tell you the sex of the baby if you want.

@SleepingStandingUp @DioneTheDiabolist

Im 13 weeks. This is my baby.
We can't afford the nipt test. So going to the Amniocentesis at 15 weeks.

If you plan to not go ahead with the pregnancy if it's a positive it does make sense to do it as early as possible, will the NHS not provide anything less invasive tho?

@SleepingStandingUp not without paying.

Im so stressed about it. I thought my baby looked fine! Maybe I'm wrong...

Did they tell you there's anything physically wrong? X

@SleepingStandingUp just that my PAPP-A is really low.

Tbh I'm done with everything now. It's been one thing after the other with this pregnancy

Just don't feel pressured into doing anything you aren't ready for. It's a 98% chance she's fine and even if it is Edwards or Patau you can choose to continue the pregnancy. If you'd Def not continue then get the amnio, if you'd possibly continue I'd look at what the risk of miscarriage is x

Who told you about this 2% chance of Patau's OP?

@DioneTheDiabolist the screening midwife

Well, shes a fucking idiot. Did she then try to sell you recommend a private test?

Please contact your own midwife and tell her your fears. You may be able to get the NIPT test on the NHS.

Presumably @Sitchervice means based on the bloods and scan where they can give a probability? If you sign up for those tests, that's what everyone gets, a 1 in whatever probability

I had a baby with patau syndrome before it was included in the 12 week screening so markers were identified at the 20 week scan and I then had an amnio which confirmed. The NHS will give you the very worst case scenario and tell you that babies with this condition are incompatible with life. This is absolutely not necessarily the case. Although many babies are stillborn or have many difficulties, many do not. You are likely to be encouraged to end the pregnancy on this basis. Many parents feel this is the right decision for them which is, of course, their choice but I would advise having all the facts first.
Have any scan markers been identified or is this based solely on screening results?

@Ohwhocares22 I have a 1:61 chance of having Edwards and Patau's syndrome. My PAPP-A is 0.14.

Sonogrpha thought my baby looked OK. But they wouldn't sit still.

@Sitchervice, I’m so sorry you are going through this, it is such a hard time. I see that others have mentioned the NIPT test, as with you, I would have had to pay for the test, I was lucky to be in a position to be able to do so, but I was informed that it is less accurate for Patau and Edwards than it is for downs syndrome and so I did not have any testing until I had the amnio at just before 17 weeks. Have you been referred to a consultant at Fetal Medicine at all? After my 12 week scan I had a further scan and appointment with the consultant a few days later which gave us a lot more information. I can understand why a lot of people would not want invasive testing, and I didn’t think it was something that I would have wanted, but when faced with the risks that I was, and the worry that it was causing, I couldn’t cope with the uncertainty for any longer, and needed all the information possible. X

@notinthestarsigns

I've had a family member pay for a Nipt test. The company they've done it with is 97% accurate and also do a 3d scan. If it come back high still I'll go for the Amniocentesis when Im further along again.

I think the concern they had was my bleeding and the wait. I have suport currently from the screening midwives who have encouraged the NIPT. And are delighted it's not with them at the NHS (not sure why)