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Increased risk of Edwards and Pataus

96 replies

Liara1512 · 06/03/2019 17:15

Hello, Im just posting this and I feel so alone and have nobody to talk to that can relate to how I’m feeling right now.
I am 12 weeks and 4 days pregnant with my 2nd child. I went for my first scan at 11+6 weeks where I had the screening test done and sonography this found an increased NT measurement of 5.3mm. I was then sent for another scan with a consultant the following day where she explained to me there is a 1 in 3 chance of my baby having a chromosome abnormality. Today I received my blood test results via phone call from the hospital and they have now told me I am low risk for Down syndrome and high risk for Edwards and Patau. I am completely terrified I am 22 and didn’t even expect anything like this to happen. I just wondered if anybody had similar experiences they could share as right now I am completely confused and scared. I am booked in for an amniocentesis on the 25th and don’t know what to expect with that. Any replies would really help.

OP posts:
MeanMrMustardSeed · 12/04/2019 16:30

Georgia, wishing you all the best. You sound amazing and I’ll be following this thread and thinking about your family.

Georgia1512 · 12/04/2019 16:45

@meanmrmustardseed what a lovely thing to say honestly I really appreciate the support Thankyou so much

TastingTheRainbow · 27/05/2019 03:54

Sorry to hear of the diagnosis, you are handling this so bravely! I will be thinking of you x

Hmmmminteresting · 04/06/2019 21:51

OP I just found your thread and it made me cry. I am so sorry to hear about what has happened and just wanted to see if you are doing okay x

MummyBearBoo · 10/06/2019 18:52

I had a nrducal TFMR at 12 weeks our little boy had a genetic muscular dystrophy condition which gets worse by my generation and if he did survive to term and escapes the one in 5 chance he had of dying in the first few days his suffering would be significant and I couldn't bring a baby into the world to suffer he also had other chromosomal abnormalities that would make what life he had much harder ! I would still have loved him all the same but I felt it was the best decision for him to not proceed with the pregnancy while he would not suffer at 12 weeks - I know this is different to Edwards -I think if I was in your situation I would be doing the same as you -you have to make the best decision for you, your baby and your family xx

MummyBearBoo · 10/06/2019 18:53
  • meant medical TFMR xx
Georgia1512 · 10/06/2019 19:54

@TastingTheRainbow Thankyou so much xx
@Hmmmminteresting oh bless you thankyou for your support and I’m doing okk I’m currently 26 weeks pregnant and baby is still going strong and fighting
@MummyBearBoo so sorry to hear of your situation it’s the hardest thing isn’t it to have to go through this, I completely understand why you made the decision you did, you sound like a strong lady and thankyou so much for sharing your story xx

MummyBearBoo · 14/06/2019 13:02

So my dating scan was fine but CVS booked for a week on Monday I'm absolutely bricking it!! Hows everyone else doing? Xx

Georgia1512 · 14/06/2019 14:16

@MummyBearBoo I hope it goes well and you get positive results the waiting game is horrible isn’t it x

MummyBearBoo · 15/06/2019 00:05

Thank you it's worse coz the days go by so slowly after my DD was born time seemed to go so fast but these first 10 weeks have dragged so much!

Georgia1512 · 16/06/2019 22:20

@MummyBearBoo I know exactly how you feel it’s such a hard situation to be in isn’t it thinking of you and hoping all goes well x

MummyBearBoo · 24/06/2019 23:24

Had my CVS today the NT measurement was normal but get the trisomy results for Down's, Edwards and Patau's on Wednesday then get the genetic test results on Friday or Monday! The is going to be s long week! Xx

Georgia1512 · 25/06/2019 08:23

@MummyBearBoo hope you get the results you want, keep us updated will be thinking of you

TheVanguardSix · 25/06/2019 08:29

Been through this twice. Two consecutive ‘trisomy’ pregnancies, two TFMRs. It leaves such a stain. OP, enormous hugs to you and to all facing the anxiety of diagnoses and difficult decisions ahead. Hugs and strength.

ARC has been my lifeline, my handhold.
www.arc-uk.org/for-parents/arc-forum

MummyBearBoo · 26/06/2019 10:53

My trisomy results are due today anxiously waiting for a phone call 😟 xx

Georgia1512 · 26/06/2019 13:21

@TheVanguardSix I’m currently 28 weeks pregnant with my son who has been diagnosed with Edwards Syndrome, I can’t even begin to imagine having to go through this all over again, I looked into arc and agree they are amazing in what they do
@MummyBearBoo fingers crossed for you! I’m praying you get positive results please keep us updated and post if you need to talk x

MummyBearBoo · 26/06/2019 13:34

Thanks @Georgia1512 - coz they're making we wait all day I'm feeling really nervous now!! My heart is racing and I can't think about anything else!! I k know the scan was normal so hopefully these will be ok and he highest are for the next test due back Friday or Monday but I'm really getting nervous about these now! Xx

Georgia1512 · 26/06/2019 14:29

@MummyBearBoo I was the exact same after I had the amniocentesis, I had to get out the house I couldn’t bare sitting waiting for a phone call all day I really feel for you x

MummyBearBoo · 26/06/2019 16:25

So I had a 1/100 chance of Down Syndrome coz my last baby had this and a lower risk of Edwards and Pataus and the results came back clear for these - but the biggest hurdle is the results I get on Friday/Monday where I have a 50% chance of the baby being too ill to keep!! Found out it's a boy which is what I thought coz last time I was having a boy (who I had to lose) I was sick loads same as this time - whereas with my DD I wasn't sick at all! Xx

MummyBearBoo · 28/06/2019 10:41

I'm utterly heartbroken my little boy, again, is too poorly for me to proceed with this pregnancy I will be needed another TFMR - he had the genetic condition which would make him too poorly!! Not sure yet if I'm strong enough to try again after this l, my second TFMR I'm absolutely gutted xx

Georgia1512 · 28/06/2019 11:32

@MummyBearBoo I am so so sorry to hear this. My thoughts are with you completely, only you know what’s best for you, I can’t imagine the pain your in having to do this twice I really feel for you x

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