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Original poster

Absent nasal bone 21 week scan

30 replies

Mummadias · 22/10/2021 17:52

Hi all,
Panicking Mumma to be here... I had my scan at 21 weeks yesterday and the scan lasted alot longer than normal. The sonographer did say that the baby was moving alot and kept putting her hand infront of her face. She got me to walk around outside for 10 minutes and then come back. She asked me twice if I've had screening for ds which also added to my worry. After an hour of proding around she said she will be referring me to King college to see a specialist as she was unable to see a nasal bone and this could indicate down syndrome. I was very shocked and stupidly didn't really ask any questions. Does any1 know what further testing may be done at King's? Also to add my screening at 12 weeks came back as low risk. Would appreciate hearing others experiences on this xx

OP posts:
PanicBuyingSprouts · 23/10/2021 12:11

No experience sorry but didn't want you to go unanswered. Did they say there were any other indications apart from the nasal bone? Have they said how long the referral will take.

So sorry you're going through this Thanks

Original poster
Mummadias · 23/10/2021 12:53

They didn't mention any other markers. Luckily I have my appointment at King's on Monday so not too long to wait. But still very anxious. Very hard to not go Google crazy. I have read some positive experiences and instances where the nasal bone is present but has been missed due to the position baby is in. I really hope this is the case. Xxx

OP posts:
Rrrob · 23/10/2021 12:59

Did you have the combined screening at 12 weeks for downs, edwards and patau syndrome? I would assume they will do a detailed anomaly scan and offer you an amniocentesis if they still have concerns.

Original poster
Mummadias · 23/10/2021 13:57

I did do the combined screening at 12 weeks and I had a results of low risk for downs, plateau and edwards syndrome. This gives me abit of hope but I know this isn't 100% accurate. Thanks for your reply. Hopefully the detailed anomoly scan will give the OK. I was wondering if they would do another scan or just offer these other tests. Not sure I would decide to have any tests that pose a risk of miscacarraige but we will see. Xx

OP posts:
Sunshinegirl82 · 23/10/2021 14:19

Non invasive screening tests such as the harmony test (NIPT) are very accurate for DS, I know some NHS trusts are offering NIPT on the NHS otherwise you can obtain it privately.

It is just a simple blood test so no risk of miscarriage.

King's had an excellent foetal medicine centre so hopefully you will find out more soon.

juglover2008 · 23/10/2021 14:20

I've heard this happen a few times .certain bits not that clear or seem to be missing then found to be fine on the follow up scan

Original poster
Mummadias · 23/10/2021 17:37

Thank you for your response. I really hope I am offered this blood test. I'm sure I will be in good hands a king's and hopefully feel alot more reasured (either way) than I did at my local hospital. Xx

OP posts:
Original poster
Mummadias · 23/10/2021 17:39

Fingers are crossed. She did say the baby was moving alot and in an awkward position. Plus I think as the scan was running over time she had to get me out of there. Xx

OP posts:
SylvanianFrenemies · 23/10/2021 17:58

Are you or your partner black? This is more common as a normal variation in black people, and people of some other minority ethnic backgrounds.

Original poster
Mummadias · 23/10/2021 22:04

My husband is black and I am mixed race. I did read ethnicity could play a part in it but I've just never heard of it personally amongst friends and family.

OP posts:
SweetBabyCheeses99 · 23/10/2021 22:10

All trusts are supposed to be offering NIPT. Was brought in nationwide on 1st July. Still, that was PHE who’ve been disbanded and renamed now so who knows!

3luckystars · 23/10/2021 22:12

I just wanted to wish you all the best. Waiting is so hard but hopefully the people at Kings will take good care of you. Every good wish for you on Monday x

Original poster
Mummadias · 24/10/2021 13:44

Hopefully the nipt test will be offered to me. Only 1 day to go.

OP posts:
Original poster
Mummadias · 24/10/2021 13:44

Thanks for your kind message. I keep hearing how good they are there so I'm abit more at ease xx

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PanicBuyingSprouts · 24/10/2021 18:34

Just wanted to wish you all the best for tomorrow @Mummadias Thanks

SylvanianFrenemies · 24/10/2021 19:20

All the best for tomorrow. It is extra reassuring that your baby is of black and mixed race parentage.

I had a pregnancy where my baby had Downs. There were multiple abnormalities visible on scanning. While every pregnancy is different, it is additionally reassuring that there don't seen to be other concerns.

groundhogyear · 24/10/2021 20:49

Just sending you all the best for tomorrow. I had all three at Kings, it's one of the leading fetal medicine centres in the world, so you are in great hands.

I would also add that scans, whilst very useful are also one of the least exact tests, especially with wiggly babies

Fingers crossed for you !

Simz01 · 24/10/2021 22:44

@Mummadias
Hope you are doing ok, and wishing you all the best for tomorrow. Ethnicity does play a part and no / hypoplastic nasal bones are more common in non caucusians

I’ve posted here before too. My 12 week scan showed a high NT and an absent nasal bone. I could see the look of worry on my consultants face as he did the scan. He did tell me that he would have been more reassured if it was just the absent nasal bone because of my ethnicity, but combined with the high NT I was at higher risk.

I think any chromosomal finding often relates to heart issues as well. And the thicker NT can also be linked to heart condition.

I was pregnant with twins, and this came up for one twin. We did harmony test which came back inconclusive, then opted for CVS. This did come back clear. Next step was a fetal echo at 20 weeks , and this was clear too.

My twins were born earlier this year and no issues related to that. My little girl is just very small and has a tiny nose. I think the path as advised and to do the testing is the right thing to do, but often is all fine , especially if no other markers and your ethnicity. I hope it provides some reassurance x

AutumnWreath · 26/10/2021 18:40

How did it go ?

user1498572889 · 26/10/2021 18:45

Hope everything went ok. X

Diasas · 26/10/2021 20:10

Hi all,
Unfortunately the results where not what I wanted to hear. The nasal bone is indeed absent but this is not all. The sonographer spotted a hypoplastic maxilla and aso baby hands where not opening. She suspects a genetic condition. I didn't end up doing a aminos test which I originally thought I wouldn't do. I get my results back in 3 days for downs plateu and edwards syndrome and then a further 2 weeks for the results on what type of genetic disorder this could be. I'm trying not be get too worried and to take each day as it comes. Thank you for all of your messages xx

AutumnWreath · 26/10/2021 21:55

I hope you get all your questions answered soon.

PanicBuyingSprouts · 27/10/2021 09:19

Oh @diasas I'm so sorry, the waiting is awful isn't it? We had tests on our first PG which ended in a termination. Our wasn't genetic in the end but it was very obvious that there was something really, really amiss. Baby had a cystic hygroma.

iamtheoneandonlyyy · 27/10/2021 09:23

I sincerely wish all the best for you Thanks

IndecentCakes · 27/10/2021 09:31

I hope for the best for you, too. I'm so sorry you have such a worry.