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High nuchal and short bones

(7 Posts)
scaryg Mon 19-Sep-11 21:23:06

Evening all,

I've been lurking since i found out i was pregnant 15 weeks ago (i'm now 21 weeks) and have found many threads extremly useful. Things havent been plain sailing and this evening i've just fallen apart so i would very much like to ask if anyone else has any advice if they have been through something similar i will be eternally grateful.

I had a 12 week scan and the NT result was 5.3mm, the midwife said they wouldn't bother with the bloods as they also come back high risk anyway and i was given 1:3 for a chromosomal abnormanlity. I got booked in for a CVS the following day (the odds of a miscarriage at 1:100 didnt seem too bad considering the alternative) by which time the NT had gone up to 7.5mm and i was given a 1:2 with Edwards as the more liekly outcome. Luckily all the results came back as normal but man that was a long weekend and then a long 3 weeks wait but worth it for the outcome.

Now i'm 21 weeks and had my 20 week scan last week which highlighted the long bones (arms and legs) are short, they were measuring at 3% centile. I was referred to John Radcliffe in Oxford for a 2nd opinion, which is where i was this morning and its still inconclusive other than the baby has short bones (they measured 19 weeks not 21). One good things is that they have confirmed the heart is currently normal. But a lethal outcome hasnt been ruled out and it's this that really scares me and also the fact a pregnancy can be terminated after 23 weeks if there is a medical reason.

Has anyone experienced a high NT and skeletal abnormalities?

mrsbigz Mon 19-Sep-11 22:15:39

hi there, i'm afraid i'm not able to wholly answer your question but i didn't want your post to go unanswered. i had a high NT with my last pregnancy (7.4mm) but that was confirmed as T21 and related cardiac problems.
I'm not sure about skeletal abnormalities but i'm sure there will be someone along soon who can share their experiences.
And i also wanted to say that i'm sorry you are going through this worrying time - well it seems you have been since your nuchal!? I was also referred to the John Radcliffe back in March and found them to be very sympathetic and helpful, and i hope you found the same this morning.
I terminated my pregnancy at 17wks, but i know there are some women on here who sadly had to terminate at later gestations, so if you have any questions or worries about that aspect of things i'm sure they would be able to tell you what happened in their circumstances.
I hope that you get some answers soon about your baby - did they let you know a timescale when you should know more?
sending lots of supporting hugs xxxxxxxx

glimmer Tue 20-Sep-11 20:15:45

I would ask if they can do a full karyotype on the amnio culture (often they freeze some?)
They have been stopping this in places to save money, but it could be another
chromosomal abnormality, besides the three most common trisomies and Turners.

Hm - 2 weeks off doesn't sound too bad at 21 weeks. I was off by 2 weeks and it didn't raise concerns. DS's femurs were also 3rd percentile and his stature is totally normal now and at birth.

It seems it is the high NT plus the short limbs that give rise to concern.

Sorry you have to go through this worrying time and it seems to be you have excellent chances of everthing being fine after all.

scaryg Sun 25-Sep-11 18:23:16

Thank you mrsbigz and glimmer for your responses it's nice to know there are people out there who have some idea what it's like to go through uncertainties during pregnancy.

mrsbigz - I'm booked for another scan at 22 weeks (next Monday) at JR and as long as the bones continue to at least grow at the same rate it'll be a good sign.

glimmer - I think i did have the full test - i got the first lot of results back within 2 days (for Downs, Edwards, Turners and Pataus) then 3 weeks later i was told by the midwife that i was all clear on the rest.

Since being to the JR on Monday I got a call from the geneticist on Friday to say they couldn’t get the babies DNA from sample taken at the CVS so couldn't do the test for Achondroplasia (the most common forms of short limb dwarfism). The only way they could the test would be for me to have an amniocentesis and with the miscarriage rate I decided against it as i wouldn’t terminate if the baby did have Achondroplasia and it's not something they would terminate over 23 weeks either. This is the only test they can do for skeletal dysplasia conditions. So we’re no further forward but I’ve now realised I need to start researching skeletal dysplasia as a potential diagnosis.

scaryg Mon 03-Oct-11 17:48:14

Just a quick update - had another scan today (i'm 23 weeks). The baby is still growing at the same rate, normal head and abdoman, but still short on the long bones, so still inconclusive as to the actual problem.

Booked in for another scan in 4 weeks... so even more waiting.

What was interesting was the consultant said achondroplasia is looking most likely but there are thers things he still wants to monitor or he could just be reading things into it as i had such a high nucal at 12 weeks (5.3mm increasing to 7.5mm). Why can't he give us some more clear guidance, i just want to know that if my baby has issues what they are so i can do my research and work out how we're going to cope with them.

ledkr Mon 03-Oct-11 18:06:46

Gosh poor you,the only things i would say are tyhat with both my last dd's i was told they would be massive from the scans and they werent.
The other thing is I was older so wanted reassurance re downs etc,i saw professor Nikolades at his Harley st practice,he is a God in my eyes and his staff and equipment are second to none,i didnt even need a full bladder for a 11 week scan.
If you wanted a second opinion im sure he would be the man for the job,good luck.

mousecat Fri 07-Oct-11 18:36:20

Hi scaryg I have exactly the same problem. High NT but CVS came back as normal. My cardiac scan at 20 weeks showed a small ventricular septal defect which the cardiologist said was very common and would resolve before or after birth. I then had my anomaly scan which showed all long bones were short particularly the femurs. I saw a geneticist at Kings on Tuesday and she said she didnt think it was dwarfism and has now used my placental sample from the CVS to test the genome CHG testing. She has said it may still come back normal but still might mean baby has some rare genetic disorder. To say Im gutted is an understatement, I am 22 weeks today and just dont know what to do. Have to wait 2 weeks for the results
Ledkr, Dr Nikolades is the director of the unit I go to at Kings and I have made an appointment to see him on Wednesday at the Fetal Medicine centre in Harley Street. I also have another scan in 4 weeks so know exactly how you feel, please stay in touch and we can help each other through this.

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