CVS results in, please please advice..

[aiti72]

Hi, I'm new here.. Last Tuesday, 11 weeks nuchal scan showed a big 5mm translucency and we got 50:50 chance for 13, 18 or 21 cromosome abnormality. Decided to do cvs and the last week has been an absolute torment waiting for result. We were now called back and said that these three cromosomes plus the sex cromosome are normal and we would be referred to an urgent heart scan for the baby. However, the fetal medicine expert told us a week ago the heart sounded fine and now we would like to know what are the other possible genetic abnormalities that cause this kind of nuchal increase. The full report takes two weeks, but I would be very happy if you could possibly advice us what to brace ourselves to. Sorry I'm babbling, it's been just horrible..

[Lara02]

@so2020 thank you sooo much ❤️
I will definitely...

[So2020]

@Lara02 I am so sorry to hear about your first pregnancy. Must have been so difficult for you and even now. Reading lots about NT numbers, 10 is high but there are still stories of babies being born fine. There are lots of unknowns but it depends on how you feel about the possible outcomes. I suggest speaking to your Fetal Medicine Councillor who should be able to put you through to midwife/doctor to speak with. Our ones at Barts Hospital have been very helpful. There is also a charity called ARC.. if you google theres a website and number you can call to discuss about what’s happening and how your feeling

[KinderWild]

@lara02 I agree with @calimommy about speaking to your midwife or consultant about your test results and what the next steps are.

[calimommy]

@Lara02 what have the care team suggested as your next step? Generally people will either choose to proceed with the pregnancy with the possible end result unknown or else go for an amniocentesis so they have a definitive answer. Can you speak to your midwife and consultant about the next step?

I'm terribly sorry about the loss of your first baby. X

[Lara02]

@KinderWild thank you for replying
I had my screening at 12+4 weeks when i got to know that NT is quite high then they offer me CVS and amniocentesis, i go for CVS at NHS hospital UCLH ... they called me and said that the result of CVS came back positive and your chance of having a baby with Down syndrome is 1/16 😞
Does it mean that baby is definitely going to have Down syndrome or is there any chance that baby will be born healthy...
i am just completely torn apart.... i am feeling depressed and don’t know what to do

[KinderWild]

Hi @Lara02 - I am sorry for the loss of your first baby.

Re your test results, I think 1/16 would be for your nuchal screening test? Did the hospital explain your next options?

If you have had the nuchal screening, In the UK it would be to have a NIPT like the Harmony (some NHS hospitals offer this but many don't and you'd have to go private) this is a blood test with no risk to the baby or an invasive test eg CVS or amino depending on how many weeks you are - this test comes with a small risk of miscarriage.

The nuchal screening test isn't diagnostic which means it doesn't give a definitive answer, which is why you get odds not a diagnosis. The harmony is also a screening test but far more accurate and it more likely to give a false positive (ie say something is wrong incorrectly) than a false negative.

[Lara02]

Hi... i am new here... i got my CVS result yesterday, it came positive as 1/16. I don’t know what to do. Its my second baby as i lost my first baby at its full term right at the time of birth this is the most wanted pregnancy I don’t want to terminate but i am confused... and scared 😭😭😭😭😭i had my test done at 13+1 as the nuchal translucency of my baby was measured 10mm that totally broken my heart into pieces.
Can someone please help me with this if u have any advice or any awful experience like this 😭

[So2020]

Hi @aiti72, I have just come across this thread and going through something similar you had done many years ago. I really hope it all worked out well. Would you be able to please let me know what happened in the end. This has been like reading a book with no ending. Thanks in advance

[EmmyE84]

Hi twinsandonemore, thankyou. I'm new to this... Not sure what I'm doing tbh...no idea how to start a new thread... I'll have a nosey around and see if I can work it out x

[twinsandonemore]

Hi Emmy, sorry you're going through such a worrying time. I'm afraid I have no experience, but I would guess you might get more responses if you start a new thread.

Take care

[EmmyE84]

Hi. 13 weeks pregnant with second child, who is 14 months and perfectly healthy. Had dating scan on Thursday and very worryingly and upsetting we were told we were high risk of DS due to NF of 6mm. Bloods came back as high risk too and soecialist said we have a 1/5 chance of DSL. Booked to have CVS on Monday. I'm so nervous of the outcome. Trying to stay positive but my mind keeps swaying massively to worse case scenario. I know the next week is going to be unbearable waiting for results and hoping I don't miscarry.
I'm just terrified at the moment and hoping for some support and advice from this group. Thanks x

[Gigondas]

And I found posting on the antenatal thread a lifesaver when waiting - and Doing whatever it took (eating chocolate , painting nails erc) to take my mind off things. Exercise also helped to try to release some endorphins and tire me out.

[Gigondas]

Baby I am so sorry you are going through this. Have you posted on antenatal results and choices as lots of experience there?
I had my son at 22 weeks as tests showed he had abnormalities incompatible with life.

Firstly the tests they did are quite thorough and there is no pressure to make any Decision- you will be supported . Secondly if you do go ahead and give birth you will most likely be dealt with by specialised staff who will help manage the process. You will be offered lots of support and pain relief so the birth process is as tolerable as possible.
I think the most important thing is to get support and counselling/therapy to help you through this (and try to take one day at a time). Have you been in touch with these people arc as they are very supportive and knowledgable and may be able to put you in touch with someone who has been through similar . I found talking to someone like that very helpful.

I really hope all goes well for you and ophelia.

[babyophelia]

can i start by saying that this thread has given me hope but still so scared and confused.

went for scan at 12 weeks and nucheal translucency was 5.4 .was referred immediatly to uch the next day to have specialist to another scan and nt was 6.4, had cvs and got result back that baby isnt downs or edward or pattaus. now we have to wait 2-3 weeks for result for more complex/rare chromological disorders. were have heart tests on the 14th of feb.

just wanted to know how you get thru the waiting?

also if those tests are all fine we have to wait until 20wks for other tests ect , what if theres somethibng really wrong and we decide to twerminate, that will mean ill have to give birth to the baby!!! im sooo scared . i dont think i could recover from that! i dont know what to do. i jus want to celebrate my pregnancy and plan things. i cant evan dare bond with the baby inside me just incase. im soo confused and sad.

found out the baby is a girl when they did cvs test and she wud be called Ophelia if she lives. please god let her.

[HouseTooSmall]

Bumping for Turtle27. [4th April ].

[HouseTooSmall]

Hi Turtle,
you may want to start a new thread with this. I know how hard it is to wait for results of cvs. You be gentle with yourself. x

[turtle27]

I am 13 weeks old pregnant. I found out nuchal measurement was 3.5mm when I was 11 weeks old pregnant. Dr. told me combine with blood test baby is risk for down syndrome. I went for CVS las week. Still don't know the results. I am very nervous. I can't do anything to correct it. It is out of my control. I am hoping that test will come okay. Dr also gave me an appoinment for later on to check baby's heart.

[guzzara]

HI don't really know what to say guess just need to get a few things in to check, We have suffered 3 miscarriges in 18 months. Now pregnant again all well till week 12. Went for scan (been going every week for 6 weeks) to be told the baby has nuchal trans of 13mm so big. Really confused upset we were refered to be told i would have to wait another week for CVS so confused everything else was great heartbeat 161 length right to dates. I need to know what all this means i've read the bad stories. So im looking for a glimmer of hope from anyone out there.

[mot1e]

Just a few words of comfort for everyone struggling with the unknown of CVS results and even wondering if everything will be OK when your baby finally arrives, it feels like a very long waiting game. We are lucky & have a happy & healthy 2yo, but when trying for another, anencephaly was detected and I had to have a termination 12 months ago, but fell prgnant again q soon after only to be faced with 1/30 chance of Downs or similar after privately paying for CVS. Finally our fantasic little girl arrived fit & well four weeks ago, after what feels like a very long 12 months. So I'd just like to offer you all some positive thoughts that you will get through the waiting game & hang in there, as when your precious little one finally arrives, after all the poking, prodding, stress and anticipation, it really is worth it. Good luck to all x

[BABYML]

I am currently going through this situation. At my 11 weeks ultrasound they noticed that the NT was high at 4.6mm with my age they gave me 1 out of 19 for DS. So I had the CVS results and they came back "inconclusive" mosaic for Turners Syndrome and Triple X Syndrome. They wanted me to have an Amnio done to get the results accurate but I will not do it since I already did the CVS. I feel cheated in that they told me the CVS results are 99% accurate and now they are "inconclusive"??? The genetics counselor told me that the baby could have on or the other syndrome be mosaic for both or have none and have the cells confined to the placenta she gave me the third possibility as a 1%. I will wait for when the baby is born and have her tested then. In the meantime and I am always reading information on both syndromes I am on blog sites and support groups which have helped me tremendously. I am actually SHOCKED by the health care system to know that there are Doctors out there who really do care. I have been contacted by some in my area and some outside my area for help which is amazing to me and I am grateful. At my 20 weeks scan everything appeared to be "normal" including the heart but they would like to be certain and have sent me to see a pediatrics cardiologist for a better ultrasound reading. Then I will be back at 24 weeks for a growth ultrasound. I was told by my midwife that they will have special Pediatrics (genetics) day of delivery as well as her OBGYN doctor in case of any complications. If anyone has a similar story please reply I would love to hear from you good or bad THANK YOU!!!

[depressedmum76]

I too am waiting for CVS results. Been 2 weeks of torture and wait seems never ending!

We opted for CVS after we were given 1:3 for downs and 1:49 for trisomy 18 & 13 based on nuchal 3.2, hCG 24.88(.65 MoM) and very low PAPP-A 0.131 (0.05 MoM) (I am 34 and have a healthly 2 year old)

Apparently a rapid resut could not be obtained due to small sample so were warned may need to have an amnio.

My dates have been amended twice due to baby being small to the point the conception date is after the date i took an early pregnancy test! I have advised the midwife but was told that the scan was accurate, even though they have changed 5 days from 10 weeks scan (for bleeding) to 12 week scan.

Hoping they arrive soon as i have already used most of my annual leave as i don't get sick pay but couldn't concentrate on my work.

[helenlouisey]

Needaholidaymum, I'm really sorry you're going through this, if I was you I'd also have a look at the Antenatal tests and choices threat, as there are some wonderful ladies on there who have a wealth of advise and knowledge.

[needaholidaymum]

This is the first time I have used this site and it is so reassuring to hear that other people are going through similar experiences to us. I had a nuchal scan two days ago which showed a nuchal increase of 2.9mm, which combined with the blood tests has given me a 1:48 chance of having a baby with downs. We had CVS last night and are now very anxiously waiting the results, which we hope to get on Friday. I just hope and pray that everything is ok, but I have prepared myself for the worst. I will keep you posted how it goes!

[mommy2aprince]

I had my 20 week u/s on the 28th of may. Found out we were going to have a beautiful girl. Two days later we got a call saying they had some concerns, they could not see the nasal bone. They sent us to a specialist and the specialist says it is a hypoplastic nose. Can someone please help me??? I have heard it has something to do with down syndrome, but does anone know anything about it? or experienced it themself? My husband and I are sooo very worried!!! Please help!

[MrsCheets]

Well i had my results from the cvs and the baby had downs. My husband and I both made the hard choice not to carry on with the pregnancy. In actual fact the cvs started off a miscarriage the day before i was due to have the termination so in the end the choice was taken from us anyway. My baby girl was born on the 8th of March at 13 weeks, we named her Grace. We hadnt planned to have her or anymore children (we have a little boy already)but she has shown me that i do want another baby and we plan to have one asap.I know everything happens for a reason and sometimes its just not supposed to be but i feel her purpose in her short life was to show me I did want another baby deep down.

My heart goes out to all of you that are going through the same thing.