Down Syndrome Advice

[traci_b]

I am 23 and pregnant with our first baby. I'm 25 weeks along and I just had the Level 2 U/S several days ago. They couldn't find the nasal bone, which they said is an indicator of down syndrome. My husband and I will accept any baby God will bless us with, but we are very scared and unsure of how to proceed. The doctor recommended another Level 2 scan in 4 weeks to see if the nasal bone is present in those ultrasounds. He stated if it's not, then they will send me for the amniocentesis. I understand wanting to wait and trying the non-invasive route, and the doctor did point to several factors that are "encouraging," including the femur length, a negative blood test I had down several weeks prior, and something regarding the heart (which, I'll be honest, I can't quite remember what was said. After dropping this bombshell on us, I was a little less attentive). But I am still unsure I can wait another four weeks before finding out for sure (this changes our plans dramatically. We currently live away from our families and were in the process of buying a house. If the tests come back positive for DS we would be moving closer to family and not purchasing a house, so it's obviously something we want to find out as soon as possible).

Any suggestions as to why I would wait 4 weeks instead of just going for the amniocentesis now? We are really confused, scared, and unsure right now of how to proceed ... any suggestions / advice would be greatly appreciated. Thanks!

[Dragon1973]

Hi Traci_b (and anyone who may need information)

I read about your posts here, and I am happy that it seems all is well from your Amnio!  I just wanted to check with you, and touch base.  I am the Community Leader for the Down syndrome Forum and Moderator for the Ds group.  If you have any questions at all, or anything I can help to answer, please do not hesitate to send me a message.  While I don't always have all the answers, I can find most of them out for you.  I have a baby boy with Down syndrome, which we learned via Amnio also.  I am a Police Officer and also a coordinator of a special needs group with the YMCA, so I have lots of resources in which to get information from, if I don't have all the answers.  I am more than happy to help, and also for those who are going through the prenatal testing phases, if you have questions, please don't hesitate to ask.
Often times pregnant mom's will get information from an Ultrasound and not know what to make of it.  Sometimes they come back as "Soft Markers" for Down syndrome, or other chromosomal abnormalities.  If you are concerned or need any guidance, please let me know.  I also have a few references posted in the Down syndrome Group for those interested about Down syndrome.

Hopefully this will help anyone who may be struggling with testing/results or just questions.  
Sincerely,
Sandi (Dragon1973)
MedHelp Down syndrome Community Leader
& Ds Group Forum Founder/Moderator

[Melka76]

Sorry to hear you are going through this - martikadragoon is someone here that I spoke with when I was going through the testing phase and my preliminary results were okay but my second test showed high risk for trisomy 18... she is very helpful and imformative.. it you want to reach out to her!!

[traci_b]

Thanks for all the advice and support! I did have the amnio done several days ago and it went fine. We just got the preliminary results back which only tested for trisomy 13, 18 and 21. The results were negative on all three, which is awesome news! The full results won't be back for another week or so, but the genetics counselor said that when the preliminary results come back negative it rules out down syndrome almost 100 percent.

Overall, I am really glad we did the amnio.There were no risks / complications for me and I don't think I could have waited another 4 weeks before finding out something, and then still not knowing for sure.

[JoyRenee]

babies366- she's 25 weeks

Traci- having one or two soft markers for DS does not necessarily mean your child actually has it. You can request the amnio if you want; you don't have to wait. It does carry many risks as I'm sure you've already googled and researched.

[babies366]

hi there i no theyl be wanting to do it 4 wks time cos its less risk of miscarriage and theyl want to c the baby develope alot more to c if that bone has not just been to small to c on ur last scan, dont worry if it does turn out ur baby has ds these days they lead completely normal lives n im sure ul love him/her just the same,

[nickieb85]

Hey I had something similar happen to me when I was pregnant with my last little boy. They found some soft markers and cysts that they said were also soft markers for Downs. They totally freaked me out and said that they recommended me to terminate. I was freaked out and they said they could do an amnio after the ultrasound. It took them 3 days to get the preliminary results back and he was totally clear. I was so relieved and I had to have ultrasounds done every week until delivery and by 34 weeks the cysts had cleared themselves up. Losing is right there is another poster with a little one with DS and I am sure she would be happy to answer questions =)

[LosingMyMindInGA]

I dont' really have any advice for you, however I do know another poster who has a DS child who will be more than happy to give you advice as soon as she logs on and sees your post.