Urgent help please! Chromosome 18 questions

My sister is currently 21ish weeks pregnant with what we thought was a healthy little bubba girl. She was getting cramps last night and went to the hospital early this morning to find out what is going on.
Whilst in the hospital, she was told that she is in the start of labour as her baby has Chromosome 18 and will be stillborn.

Apparently there was a small note written at the bottom of her NT scan but yet her risk for it came back as miniscule (1:175000 or similar.)

2 weeks ago she had a morphology scan done and everything was perfect. The Dr told her it is normal to have a morphology scan come back right when there is something wrong in the NT scan. She was also told that there is nothing more they can find out until the baby is here! This doesn't sound right to me.

My sister is an absolute mess at the moment. She is having some cramps and has been told her baby will be stillborn at any time as this is what happens and it happens around this time. Because my sister lives in a small country town, there is no way she can get an ultrasound done today or even get a referral to get one done until tomorrow at the earliest.
I want her to get a referral to come down her to JHH and have a high level scan done. Hopefully she will get a referral for that tomorrow.

Does anyone here know anything about Chromosome 18? Is what the Dr has told my sister correct?
TIA

I am so sorry your sister is going through this Lisa :hug:

I dont know much about chromosome 18 but I know that it can result in a number of conditions.

I also know that the NT scan and blood tests dont necessarily pick up everything :(

My prayers are with your sister. Take care xxx

Oh Lisa my heart breaks for your sister. I would think they would do an amnio to confirm the diagnosis. Many :hug::hug: to you and your sister xxx.

Regards,
Dianne

That's awful :(. I will be thinking of your sister :hug:. Sorry I don't know much about chromosomes, but how did she discover she had a c18 baby? Was it a scan (they are just indicative, not diagnostic, I thought only blood tests were diagnostic?).

Just get her to drive down to you and present in emergency at JHH hun. The wait will kill her.

Hugs to you all

How aweful! Sending hugs. How did they diagnose trisomy 18?
It is usually picked up through chorionic villi sampling( we has this done- our risk was 1/29) or amniocentesis. A good obgyn doing a scan can see the baby's hands can not look right. If the hospital is correct about trisomy 18 then the prognosis is not good. We were told it is fatal. She should be offered counseling to give her support through this incredibly traumatic experience. I think it's a good idea for her to come to a bigger hospital like you suggested and get specialist care. Where's home for you?

I'm so sorry. How horrible. :hug:

basically, my sister was told this morning that her baby has chromosome 18.
It was apparently written as a small note on the bottom of her NT scan that her baby has it, but her risk factor for it was very small.
She had her morphology scan done 2 weeks ago and everything was apparently fine. She is having a girl.
She went to the maternity ward early this morning after having cramps most of last night and it was there that the GP/OBGYN told her that this is what her baby has and she is going into labour with what will be a stillborn baby due to chromosome 18.

She also told her that babies with chromosome 18 issues usually appear fine in the morphology scan but die and come out stillborn and that they won't know anything more until the baby is born.

Because she is 21 almost 22 weeks, she was told she is too far along for amnio and obviously way too far along for CVS. A different GP/OBGYN told her that the baby looks perfectly fine in the morphology scan, as did the sonographer (not that they would really say anything, anyway.)

It's just so confusing. My sister is absolutely beside herself with worry.

Lisa, google chromosome 18 org.

It has more information on there x

You can have an amnio all the way along! I know of people who have them at 37 weeks!

Lisa, I am so sorry for hear about your sister and her baby daughter :hug:. This is such devastating news, my heart is just breaking for her. My heart goes out to her and her family, and to you too hun, such sad news about your precious little niece. I wish there could be done something to make it all OK :crying:. Many hugs, love and strength to your sister hun xoxoxox

I just got off the phone to my sister. Apparently it was picked up in the morphology scan at 18 weeks. She is 22 weeks now :(

The info she has been given doesn't make sense.

Every person has 2 chomosome 18s. You get two copies of every chromosome. Having 3 copies of a chromosome or only one copy can cause issues, but this is usually diagnosed via CVS or amnio. There can also be a segment of the chromosome missing or extra. They can do amnio up to just before birth.

She needs to ask for a second opinion, or get a genetic counsellor or social worker (in a smaller hospital) to find out and explain what is happening.

She definately needs a second opinion. I had an amnio at 23wks with Emmanuel, if they picked up T18 at 18wks why on earth didn't they tell her and send her for an amnio then and organize genetic counselling. I really feel for your sister, doesn't sound like she has been looked after medically.

Regards,
Dianne

:

---

Just get her to drive down to you and present in emergency at JHH hun. The wait will kill her.

Hugs to you all

---

I second this - at least the bigger hospital will be able to help a lot more. It doesn't sound right the info she has been given, especially if they knew 4 weeks ago and did nothing.

Lots of hugs for your sister

I was told at 9 weeks that our baby had possibly trisomy 13 or 18. This was because of high nuchal fluid (what they look for at the 12 weeks scan). We had CVS done and this was ruled out for us. We were told that trisomy 18 is incompatible with life. I am so sorry your sister is going through this. I just don't understand how if they hospital new this why they didn't tell her and organise for more testing, scans and genetic counselling.
There is a charity called HEARTFELT (google it) and they take photos of seriously ill babies and stillborn babies free of charge. Maybe this is something you could organise for your sister?

:

---

We were told that trisomy 18 is incompatible with life.

---

tHIS is not actually true. A small number of people with trisomy 18 have lived until their teen years, although they have had serious medical issues.

Hope your sister gets information so she can make decisions about any medical decisions.

So sorry she is going thru this but it doesn't sound right to me... I'm struggling to understand why it was picked up but nothing was discussed with her and where they can go from there!
I had an amino at 22 weeks so she can have one at anytime..
I would take the advice offered above and get her to major hospital for another opinion and tests....she must be so scared atm..