High risk combined test and baby showing Cystic Hygroma

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We had our 12 week scan and initially were relieved to see a wiggly baby with a heartbeat after multiple losses.

However baby had an increased nuchal translucency and a cystic hygroma.

Our combined screening test has come back already with a 1 in 2 for down syndrome and 1 in 39 for Edwards and Pataus.

My mind is all over the place, I've read the documentation sent to us by the screening midwife multiple times which covers the three syndromes and the next tests available (we have opted for the NIPT test next).

We've been given no information on the Hygroma so I've been left to Google which seems to imply even if our baby doesn't have any of the three syndromes they will likely be non compatible with life.

I have no idea what to expect next, I am so overwhelmed by this ans possibly having to make the horrible decision of carrying to term a baby that won't make it or choosing a TFMR.

Has anyone experienced anything like this before?

I'm so sorry you are going through this. I've never actually seen a post before that I could've written myself 😞

Do you have an appointment scheduled with the fetal medicine unit? I had my first scan at 13 weeks and discovered our baby had fluid around the head and was urgently booked in to see a consultant in the FMU. It was at this appointment the next day that we had a more detailed scan and an extensive cystic hygroma was diagnosed and bilateral talipes. It was explained to us that 2 out of 3 cases such as ours where caused by a chromosome abnormality such as T21. Our baby's hygroma was around his head neck chest and abdomen. We were told there was 50% chance he would also have a heart defect.

It's shattering news. Based on our diagnosis we were told our baby had 10% chance of making it to 20 weeks. In these cases the hygromas can resolve themselves but for our baby he also had club feet and the chance of a heart defect. For us it was too much to leave to chance, the odds were against him, we decided to TFMR at 14 weeks. We had the cord tested after delivery and it was confirmed he had T21.

I'm sorry I don't have a better outcome to give you. Please do wait until you see your consultant, each case can be different. I do know someone whose child was born with a cystic hygroma she's a wonderful happy 16 year old but she has had a lifetime of surgeries. She's a warrior.

Feel free to PM me, I wish you the best of luck xx

I'm so sorry. I can give my experience but unfortunately it wasn't a happy ending. My baby girl had an 11mm cystic hygroma at 12 weeks, which increased to 13mm at a subsequent scan. Unfortunately she didn't make it, i lost her at 18 weeks, she had Edwards syndrome. When I was in your position though I saw many stories of hope, so please don't give up hope. Sending love

We have just been offered NIPT or CVS, for now we have chosen the NIPT as non invasive and if this comes back high we will do the CVS. We have also been told we will have a cardiac scan around 18 - 20 weeks.

No mention of Fetal Medicine Unit or anymore scans between now and 20 weeks. We had a private scan at 9 weeks, but I can't see anywhere that would do a private scan that covers anything like this. They just check heartbeat and size.

I think anywhere private would probably refer you back to your local maternity unit so you are doing all you can right now.

I'm sure not all cases are as severe as ours was. Take it one day at a time. If you feel you can update us please do. Take care x

Just to update our NIPT came back as low for all three syndromes. However the MW warned that is can be more likely to get a false low NIPT of you had a high combined test! Helpful.

They will rescan baby at 16 weeks to see if the hygroma has reduced and then we will decide then wether we want to proceed with the amniocentesis.

All of this is terrifying and I am well aware that the clock is then ticking towards it becoming harder to make a decision on wether to TFMR. We also have an 11 year old who is still unaware of the pregnancy and I won't be able to hide a bump forever.

Bump

I'm sorry the NIPT and MW advice hasn't really made things easier for you. Our consultant told us that in 2 out of 3 cases there will be a syndrome as the cause of the hygroma. It seems I had a lot more information earlier on than you as I was referred to FMU the same day of my 13 week scan.

I guess you just have to follow your heart. Our daughter was 8 when this happened to us. As I was told we were unlikely to make it to 20 weeks, the thought of my bump growing and then starting a miscarriage at home or god forbid out somewhere with my daughter alone was enough for us to decide to protect her from any trauma or upset. But it's individual circumstances, DH is a shift worker, us girls are together on our own a lot.

Do you have a date for the 16 week scan? Theres still a chance your baby's hygroma will be resolved, you are stronger than I was and I wish you all the luck in the world xx

Update: I am now 16 weeks. Baby was scanned again at 15w 5d by FMU. Cystic hygroma was still present on babies neck but noted as subtle and not as pronounced as 13w scan. Being referred to Southampton Hospital for a further scan and to discuss amniocentesis.

She could not check babies face due to position but all other measurements were ok and heart was looking ok (although warned early).

Advised baby could still have a genetic condition including Turners (which NIPT doesn't cover, although we know this only effects girls). A heart anomaly or problems with Lymph drainage.

We now have the agonising wait for Southampton to call with an appointment. We already have an echocardio appointment with them at 20 weeks booked.

Update Amniocentesis came back clear for Trisomy 21, 18, 13 and any sex Chromosome abnormalities.

Baby showed face and nose and lips look ok.

Baby no longer has any swelling as of 17.5 weeks and is a girl.

Now we wait for the full microarray and then a heat scan at 20 weeks.

What is he latest news?

Full micro array was clear.
20 week scan was passed with no abnormalities found including a complex scan of the heart.

We have now been passed back to the standard NHS process as "normal". Currently 22 weeks.

That's excellent news OP, so happy for you 😀 xx

Thank you! We feel like we can start to try and enjoy the pregnancy now and have told our boy he's going to be big brother.

Hi I am so happy for you. Me and husband have been trying since I was 29 :-(

Quick note on our story. I am 43 and has numerous iui and IVF cycles and never a positive test. Then a few years after we gave up with that I got pregnant naturally and we were over moon it was during covid. Then after 6 weeks I just bled and bled and I had a miscarriage. Now upto present day. Me and husband had moved on from this and our of the blue 12 weeks ago I fell pregnant. I have had it rough with blood and a scan at five weeks little one was perfect. But still had bad morning sickness and been on drips etc.now at 12 weeks we had hoped to get some good news. What we sore was out baby moving arms and legs and heart beat all looked perfect to us. But the lady who did scan said. At very end said I need to get a second opinion on the neck there seems to be some fluid there. Ok we went alarmed until we read what she wrote and she put. There appears to be a disruption on the skin line at the back off the fetal neck possible cystic lesion measuring 9 x 7 mm in coronal section avascular.

We have been referred to fetal medical. Seeing them Monday. Me and husband are so scared after reading some horrifying stories. We had joy then huge disappointment.

Some off the success stories on here have helped me feel better. But honestly I don't know what to think apart from the worst it seem so cruel.

Take it's looks pretty bad for me then.

I really recommend the Facebook group Cystic Hygroma and Fetal Hydrops. It has so many people's stories on it and I found it a very supportive group.

The fetal medicine unit will explain lots to you about what this may mean, but it is all "could means" they have to then rule each thing out test by test. I found the FMU to be very helpful and empathetic.

I completely understand the shock as we also found out at our 12 week scan where we thought everything looked perfect.

Try not to lose hope yet. Xx

I‘m so glad to hear that many of your tests came back negative, but I’m not sure I understand - are you no longer worried about the 1 in 2 downs combined screening result?
We‘ve just found out that our baby has CH and a NT of 5mm and are awaiting further tests.
From the research papers I’ve read so far, there appears to still be a significant chance of genetic anomaly when the CH has resolved in pregnancy and diagnostic tests have been clear. Have you been told to expect a normal, healthy outcome now?

There is so much information out there and some is conflicting, I hope you don’t mind me asking.

I’ve met a couple of people with them. Both had tracheostomy’s when younger, but now removed. And both living a normal life.

The combined test and the NIPT test are screenings only.

We opted to proceed with an amniocentesis as this test is diagnostic. Our amniocentesis checked for downs, Edwards, Patau and any sex chromosome abnormalities none of these were found. After this a full microarray was done and again nothing was found.

We cannot say 100% that nothing could be wrong but we can now say we are in the same camp as any other normal pregnancy now.

If you want a definitive answer you will need to do a CVS or an amniocentesis. They do have a small chance if causing a miscarriage but we decided the risk was worth taking (1 in 200). The genetic midwives should talk you through the options available to you.

I really recommend the Facebook group Cystic Hygroma and Fetal Hydrops for support.

Hi quick update

posterior encephalocele is the likely reason they think.

I don't suppose anyone knows much about this. ?Successful outcomes good or bad. Internet has little information but Great Ormond street has some in information, just little about rear ones.

I am so glad to read this. Can I ask what size your cystic hygroma was on the 12 week scan and if it was all over the baby's body? I am in the same situation and feel hopeless

OP what an amazing outcome for you in the end!

We were never told a measurement (just the NT was 4.5).

The hygroma was down the back, but not septated. They also felt there was some swelling to the front of the neck.

Sorry you are going through this. I found the cystic hygroma and fetal Hydrops Facebook group to be very supportive.

How are you getting on? I hope you found some support specific to posterior encephalocele.