Hi guys, so I had my 20 week ultrasound and the nasal bone was absent. I've since had another ultrasound to confirm this. I'm still considered low risk for Downs Syndrome because I did a harmony test at 10 weeks and that was low 1 in 10,000. Has anyone been through this before ? Any advise. I'm feeling a bit lost and dont know of I should do the amniotic fluid test to test for other chromosome disorders. Thanks in advance.
Absolutely do amniocentesis. An absent nasal bone could be nothing. But it could also be a symptom of a genetic syndrome besides Down Syndrome. And some genetic syndromes require special care immediately after birth. If your baby is going to need special care ASAP, it's best to find out now!
You'll want to know in advance, so you can give birth at a hospital with a level 4 NICU and specialists who are knowledgeable about the syndrome in question. Our son's condition was so rare, we relocated to another city for his birth. We wanted him to be born near the best surgeons in the world for his condition.
And if your baby does not have any genetic syndromes, it will be such a relief to know that now!
Did the harmony test cover any genetic syndromes besides Down syndrome?
I don't mean to scare you. But I've been in your shoes, and we're so glad we prepared ahead of time for our son's special needs. With this pregnancy, I did CVS testing because of our family history. CVS is like amnio, but it samples the placenta instead of the amniotic fluid, and CVS can be done earlier. It hurt, but it was over very quickly. And it was so, so worth it to know that this baby is healthy!
If you have any questions about what it's like to do the test, I'd be happy to answer them.
Also, I'm really sorry that your doctor left you feeling so lost. It's his or her job to help you understand what an absent nasal bone means, and what to do next! We switched from a regular OB and midwife practice to a high-risk practice after our 20 week anatomy scan.
If you are not already seeing a high-risk OB, you may want to switch. A good high-risk OB regularly counsels parents to be in situations like this. They can give you expert advice that will help you make good decisions.
Thank you. This is exactly my issue. I have not had it explained to me other disorders which an absent nasal bone maybe associated with, all they seemed conserned with is downs syndrome. And how to test for these other disorders. I have an appointment in friday, where ill be asking for the change in hospital and also more in depth with other disorders.
I'm so glad you'll be seeing the doctor again very soon. A good high risk OB and/or genetic counselor should be able to answer all your questions and help you decide what your next steps should be.
Waiting for your first appointment with the specialists is SO HARD. But between now and then, please remember that your baby might be perfectly fine. I'll be thinking of you! Please come back and give us an update.
Not much to add here--I thnk @PleaseSendPicklesNow has great advice. Just wanted to send you hugs. I am sure this is all really stressful. FX for you and your little one!
No advice from me, either, but I wanted to offer my support and hugs. I'm so glad you're following up and hopefully will find out the information you need. Keep us updated!
Same as all the others. Just wanted to let you know you are in my thoughts, and I'm sending you positive vibes and virtual hugs. Hope you get the answers you need!
Re: Absent Nasal bone
You'll want to know in advance, so you can give birth at a hospital with a level 4 NICU and specialists who are knowledgeable about the syndrome in question. Our son's condition was so rare, we relocated to another city for his birth. We wanted him to be born near the best surgeons in the world for his condition.
And if your baby does not have any genetic syndromes, it will be such a relief to know that now!
Did the harmony test cover any genetic syndromes besides Down syndrome?
I don't mean to scare you. But I've been in your shoes, and we're so glad we prepared ahead of time for our son's special needs. With this pregnancy, I did CVS testing because of our family history. CVS is like amnio, but it samples the placenta instead of the amniotic fluid, and CVS can be done earlier. It hurt, but it was over very quickly. And it was so, so worth it to know that this baby is healthy!
If you have any questions about what it's like to do the test, I'd be happy to answer them.
If you are not already seeing a high-risk OB, you may want to switch. A good high-risk OB regularly counsels parents to be in situations like this. They can give you expert advice that will help you make good decisions.
I have not had it explained to me other disorders which an absent nasal bone maybe associated with, all they seemed conserned with is downs syndrome.
And how to test for these other disorders. I have an appointment in friday, where ill be asking for the change in hospital and also more in depth with other disorders.
Waiting for your first appointment with the specialists is SO HARD. But between now and then, please remember that your baby might be perfectly fine. I'll be thinking of you! Please come back and give us an update.
DD1 EDD 9/29/2015, Born 9/24/2015
DS1 EDD 1/3/2018, Born 12/26/2017
BFP #3 3/21/2019, EDD 11/29/2019, MMC/D&C 5/7/2019
BFP #4 6/28/2019, EDD 3/12/2020
Im so sorry you're having to deal with this and hope you get many more answers at your appointment Friday.
Born via emergency c-section - 8lb, 19.75 in, 100% stubborn BFP Chart
8 cycles of unmedicated trying = BFP!! - EDD 1/10/18
*Waiting for Baby Eags 2.0*;