Experiences after high-risk antenatal screening and unsuccessful CVS attempt

[Tbark]

I just wondered whether anyone had any experiences they could provide me with. Our world was pulled into turmoil on Tuesday when I received the devastating news from our combined screening of 1:10 for downs syndrome. My NT was normal at 2.1mm but my age (39) hcg 2.75 and pappA 0.52 have all led to this result. After a miscarriage 11 weeks in February we're finding it difficult to remain positive.

We booked in for a CVS but due to the position of my placenta it was not possible. They also sadly saw absent nasal bone, dilated kidneys and a VSD in the baby's heart. I feel like I already know the answer now and sadly myself and my partner would not continue if a chromosomal defect is identified.

I guess im just looking for small glimmers of hope even though it seems more than impossible at the moment.

@CalmWriterfantastic empathy to a poor woman who’s going thorough a really tough time. What on earth is wrong with you?

OP I am sorry the first half of this year has been awful also. I had 1 in 94 chance of Downs owing to older maternal age (37, 38 when our son was born).

The NIPT showed low risk for the trisomies though and there were none of the physical markers you mention during the scan.

I am so sorry you’re going through this.

So what because im 39 im not supposed to have anymore children or I deserve to be going through this? What a narrow minded view to think this baby is unwanted. It is a very much loved and wanted baby but sadly if the diagnosis i fear is coming, they will have a complex medical diagnosis and I am not willing to put them through that.
And just to note I am a medical professional myself and find your comments neither helpful nor supportive.

Thank you for your story @Piglet89 and im sorry you had to go through this. I am very happy it all worked out well for you, what a worrying time this must have been.

Also thank you for the support in response to the naive and ignorant poster above. Looking for support on this site I didnt imagine that the first response would be so cold and callous

Hello everyone, I wanted to share my experience with a high-risk combined screening result in hopes of reassuring someone today.

I’m 34 years old, and after having my first child 6 years ago, I suffered two miscarriages around 5–6 weeks. During this pregnancy, I had my 13-week scan and double marker test. The ultrasound was encouraging—NT was 2.5 mm and the nasal bone was present. However, the blood work flagged a high risk for Trisomy 21 (1:101), driven by an elevated β-hCG of 4.448 MoM (PAPP-A was 1.098 MoM).

I chose to follow up with an NIPT, and a week later, I received low-risk results across the board.

I know how overwhelming the anxiety is after getting a high-risk result, but remember that a screening result is just a probability, not a diagnosis. Wishing you all the best with your pregnancies!

Thanks for posting this @Masha34 and im so so happy that your results came back low risk, i know all too well how agonising the wait is. A story like yours is what i was so desperately searching for in our journey.

Sadly my story didnt end so happily and we met our beautiful son at 16+6.

Wishing you all the best of luck in the rest of your pregnancy xx

I’m so sorry for your loss

Thank you so much for your incredibly kind words @Tbark , especially when you carry such a heavy heartache. I am so deeply sorry for the loss of your beautiful son. It takes immense strength and grace to offer support to others while navigating your own grief. Sending you so much love and holding you and your boy in my thoughts.

@Tbarkmy heart goes out to you. I’m so sorry for your loss. X

I’m so sorry for your loss too. It’s really good that you and your DH were both in agreement over this. If it’s any consolation we had a MMC with our first due to another medical issue and went on to have a second successful PG. I wish you all the best