1:2 risk of Down's syndrome (nasal bone absent)

[Yaya70]

Hello, I'm new to this site, but after some bad news at our 12-week scan yesterday I'm searching for some advice. I'm 40 and pregnant with twins, but at the 12-week scan we were given a 1:2 risk of Down's in twin 1 and 1:26 risk of Down's in twin 2. We're booked in for a CVS on Thursday. The nuchal measurement was fine at 2.0 mm and 2.1 mm, but both twins were positive for some of the soft scan markers. In particular, the nasal bone was absent in twin 1, hence the very high risk (well, it was present but the line was lighter than it should have been). From my research, it seems that an absent nasal bone is very rare in chromosomally normal babies (1-5%). Has anyone else had an absent nasal bone on a 12-week scan and gone on to have a healthy baby?

Any advice would be very welcome.

xx

I have posted in here about my experience This is quite a few years ago now (2000), and information/advice may be different now.

Hi Yaya, I find myself thinking of you sometimes. Just hope you are coping with things. If you read this - just wishing you all the best and take good care. xx

Hi. I'm 44, Thai ethnicity and pregnant with Caucasian partner. This is my first time to come so far in first trimester.I had my first scan at 12 weeks and 1 day with NHS at St Thomas'. My Nuchal scan 2.4mm, Nasal Bone Absent, my age and blood test combined give me 1:2 high risk of Down Syndrome baby. Everything else with the baby are seem normal. We were devastated with the NT result.

I was booked to have CVS on the same day, but the DR couldn't see the baby with the scan, because I have Fibroid over the top of uterus, the needle can't get to the placenta. Also it might increase the chance of miscarriage further more than 1:100 risk estimated.

However, my partner and I found another solution with Non-invasive test at The Fetal Medicine Centre in Harley St. The centre is nice, clean and staff really friendly. Make me feel a bit at ease with my troubles. The clinic required me to have another NT for their own record, another £180. Happy Days, we didn't have any choice if we want to have DNA test call " Harmony " that cost £ 400.

The " Harmony ", this test is 99% detect Down Syndrome in the fetal from the mother blood. I think it better then CVS and Amniocentesis. I had second NT at 13 weeks and 3 days. Everything else with the baby seem to be normal again, but still no Nasal bone. All combined test result of my risk better this time by 1:3. We're not sure what to think. Professor Nickolaides seem to be concerned about the Nasal bone absent more then anything else. I asked the professor if ethnicity have to do with the Nasal bone absent and he said " may be ". In my mind I believed have everything to do with it. However, I signed the consent form for " Harmony blood test " the blood sample will send to be the Lab in California. We should expect the result to come back within 2 weeks. Another 2 weeks of fears for our baby, sleepless nights and unfortunate plans for the worst news. I can only leave in God's will.

I couldn't let it go with the misery I did some more research about Nasal bone absent, then I come across E-Journal with Thai Professor in Division of Maternal-fetal Medicine at Chalalongkorn University in Bangkok. He said most of NB measurements are base on Caucasian, so some time is not accurate to use the same measurements on Asian/Oriental Fetal and I agreed. I think the Fetal Medicine in the UK should separate all measurements to cover all ethnicity. Non of the parents should have to go to devastation on over-all gestation.

The add-up cost on extra test you don't need. The good news is NHS might introduce " Harmony Blood Test " in 2015. Happy days.

On additional note:

I went to Fertility test, then Dr. told me that I have only 10% chance to have a baby with IVF assistant by natural cycle + I have 3 large Fibroid, they will make it difficult to fall pregnant. Soon after that I fall pregnant, it was a miracle. I was so happy to be able conceived naturally. Then the saddest news with first NT result crushed my world in to pieces.

Conclusion: I wish no one have to same experiences I had in the last 2 weeks, but if you do please share with me. I'm hoping for the word " normal baby boy or girl ". Pray with me.

Many Thanks for read my message.

xoxoxo

Good luck I hope the result will be good I had harmony as well and the wait was 2weeks for result. Be strong !!!

Hi Lorakk
Thank you very much. I hope you have good news with your result as well.
XOXO

Good luck with your results. I wanted to add that we had an absent nasal bone at our 12 week scan (well it was there but not fully "ossified"), my overall risk was low however (about 1 in 5000) so they didnt recommend a CVS etc and to wait until 20 week scan, which showed a fully formed and normal nasal bone luckily. Interestingly my husband is of chinese origin (I am caucasian) and the doctor at my 12 week scan said that babies of asian descent often develop nasal bones later than other races and have smaller nasal bones overall so it isn't abnormal to have an absent nasal bone at this stage.

Hi is intro girl

Thank you so much for your support. Much appreciated. That's interesting regarding the Nasal bone absent with your baby and DR comment. Your message do give me some hope.

I have another long week of waiting to go for the result.

Many Thanks once again.

Hi varunya I hope u are ok and result is reassuring. How are you getting on? :-)