Terrified! Can Someone Please Advise

[nyleelee68]

I am 39 and 30 weeks pregnant.  I thought everything was going fine until 2 weeks ago, when my ob/gyn office called stating that the ultrasound that I took 6 weeks prior suggests that I get a fetal echo, and the nasal bone was not visualized.  The place I took the ultrasound told me everything was fine and let me leave thinking all was great.  I did do the echo 2 days later and thank god all went well.  From everything I read, the nasal bone is #1 indicator of down syndrome.  I had 2 other ultrasounds since, at 2 different places, one was definitive that they did not see nasal bone and the other wasn't sure.  Upon speaking to other doctors, we realized that there were tests that I should have taken much earlier in my pregnancy, that my ob/gyn NEVER mentioned. Nuchal, ultrascreen, quad. He NEVER even took my blood. All they ever did was my urine, blood pressure and weight.  He is totally negligent and he knows it.  I have since switched doctors.  I was offered now to do the amnio, which this late in the pregnancy, can cause complications.  I am so scared. and so furious at my original ob/gyn for doing nothing on me, and for the ultrsound place for telling me everything looked great, and then I get a call a full 6 weeks later.   God forbid if there is a problem, I could have and should have known, 3 or 4 months ago.  I have been a wreck for 2 weeks now, thinking my baby has down syndrome.  From what I read and am told, healthy babies have nasal bones visable on ultrasounds. Before all this happened we did the 3D ultrasound and he looks beautiful, but they said that down syndrome is not detectable on 3D's I may do the amnio when the baby gets a little bigger, but I am so afraid.  Imagine putting yourself and your pregnancy in a doctors hands and then to be put in this position?  Has anyone ever been told that they did not see the nasal bone on multiple ultrasounds then have gone on to have healthy babies?  There are no other markers, and his heart is good.  Please Advise.  Sorry it's such a long read.

[carpediemforlife]

Well my nephew has Downs.  And my sister knew it at 4 months. And there are markers in your blood that they can test for that will assist you as well to help determine your risk further.  And a specialist for you peace of mind at this moment should be a MUST. At your age I am shocked that the nuchal fold and CVS were not offered at wk 12 to you. They were both  mentioned to me to think about at 8 wks as I was 35.  I am so sorry for all your frustration and mental stress this must be causing you.  Please pray for the health of your child daily and I will do the same for you.  And keep us posted. We are all here for you.

[Sheri1972]

Hello!

That's a horrible situation, and I'm shocked that the OB/GYN didn't even mention at least a quad, given the fact that you are over 35.  I would be completely livid!

I would suggest as someone else has, that you consult with someone in Fetal Maternal Medicine.  They employ genetic counselors and are specialists typically in pregnancies in women over 35 and can advise you the very best on how to proceed.  I saw one of these doctors because my mother took DES when she was pregnant with me, so they wanted to check my cervix to make sure it wasn't shortened due to the exposure and put me at risk for miscarriage.   I also was assigned a genetic counselor, who presented me all the testing options for Down's and many other genetic markers, as well as risks associated with amino, CVS, and other testing options.  I am also a geneticist, so between the two of us, we were able to come up with the best option that made the most sense to me given my risk factors.

These type of specialists also tend to have better ultrasound equipment than the regular OB/GYN to look for abnormalities.

Good luck to you, and I'm so sorry you have to go through this!

Sheri

[COWBOYS30]

I KNOW WHAT YOU ARE GOING THRUE IS VERY DIFFICULT MY OB GYN NEVER OFFERED THE AMNIO TEST AND WHEN I WENT TO DO  MY ULTRASOUND IT SAID
THERE WAS SOMETHING ON THE HEART AND IT COULD BE A RISK FOR DOWN SYNDROME BUT ITS TO LATE TO TEST FOR THE AMNIO AND THEY OFFERED A
2ND ULTRASOUND WHEN I WENT THE LADY IN ULTRASOUND SAID EVERYTHING LOOK GOOD BUT I WAS IN THE RISK OF HAVING A BABY WITH DOWN SYNDROME AND SHE TOLD ME AT AGE 30 EVERYONE THAT IS PREGNANT IS A T RISK AND I STARTED TO CRY BUT YOU KNOW WHAT I AM OVER THAT I KNOW IN MY HEART THAT  MY BABY IS HEALTHY AND SO AS YOURS THERE IS STILL NOT A TEST THAT SAYS 100 UNHEALTHY BABY THE ONLY ONE THAT KNOW IS GOD SO LEAVE TO HIM EVERY MORNING WAKE UP AND SAID HOPE MY BABY IS FINE AND LIFE GOES ON  

[peekawho]

If there were no other markers noted, that's a good sign.  Not a guarantee, but a good sign.  

[jill03]

Wow! That is unbelievable and I'm so sorry you are going through such stress. I've never heard of a physician acting so inhumane and unprofessional. Not sure where you had the other u/s done, but if I were you I would contact and consult with a "Maternal Fetal Medicine Specialist". Even if you are seeing a regular OB/GYN they wouldn't mind you consulting with a specialist. Any OB's main concern should be with your health as the whole person and your baby. Your new doc should actually have a name and number of a specialist in your area.  Make your appt. now and in the meantime get a hold of your u/s reports and take them to your visit. Take care of yourself!  

[Tanker Chic]

Wow.. I can't believe it would take them 6 weeks to tell you something like that.. that does not even sound right.  There are option to people with babies with downs or potentially and waiting 6 weeks can take some of those options away from the parents.  I'm really at a loss of what to say.. other than I am really sorry about the WHOLE ordeal.

Take care.