More stress : update on the bottom

So, first the panorama genetic screen showed that I am a carrier for two different genetic disorders which dh has to be tested for. Now,my midwife calls me and says my Nt scan showed a nuchal measurement of 3.3. We know it isn't related to Down syndrome since my panorama results came back normal for downs. She says it can indicate cardiac issues in the baby, but there is a high rate of false positives. In two weeks I need to go for a detailed cardiac scan of the baby. Feeling really stressed

Message edited 1/24/2015 5:48:25 PM.

Re: More stress

Try not to worry too much, the tests can be wrong

More stress

Def try not to worry!! With my son at 16 weeks they found an echogenic focus on his heart and said it's a soft marker for downs then at 20 weeks they found his kidneys were enlarged and that's a soft marker for downs. My odds were still high that he wasn't gonna have downs so we did not do an amnio or anything and he is a perfectly healthy 2 year old! Modern technology is amazing but sometimes I think they know and tell us too much and we worry the whole 9 months!

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Honestly, I think most of these tests are more worry some than anything. When I was pregnant, I felt like every doc apt, test, sono, etc., I would get bad news. I was older when I was pregnant so DD's chance of having Downs was high, had genetic counseling, then they found an echogenic focus on her heart, then...It's too much. And she was born 10000000% ok.
I didn't even have an NT scan. My doc said if I wanted to find out 100%, to have an amnio.
Think happy thoughts, I know it's hard. But, chances are your LO will be just fine.

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Hope everything is OK!

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Yeah, I some what regret having the test, but at the same time I would want to know if something is seriously wrong. Maybe it was a mistake. I am glad I had the Panorama test because at least we know this abnormality is NOT related to a chromosomal abnormality.

More stress

double post

Message edited 1/22/2015 11:42:17 AM.

More stress : update on the bottom

So yesterday , I get a call telling me that my free beta hcg levels taken on the day of the nuchal scan were low. This linked with the 3.3 mm nuchal measurement means they want to send me for genetic counseling and to a maternal fetal medicine specialist. I'm so upset , I barely slept last night and I've been crying half the day. I'm so confused. Please send me good vibes and prayers.

More stress : update on the bottom

prayers being sent!!!!!!!!!!!!!!!!!

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Re: More stress : update on the bottom

Sending many prayers!

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FWIW, my beta hcg and Papp-A were both below the normal range with DS2. I had to go for genetic counseling and MFM. The genetic counselor freaked me out and said having both of the levels low could indicate a growth issue. The risks for Trisomy 13 and 18 were also higher than what they normally were for my age because of those low numbers. I couldn't sleep for weeks. Then, my quad screen results were above the normal range for spina bifida, again indicating a possible growth issue. I had a Level II ultrasound with MFM around 17 weeks and everything looked fine. I was monitored every 4 weeks at MFM for growth and starting at 32 week, I was monitored weekly by my OB with NSTs and sonos. DS2 was born healthy at 7 lbs 11 oz. I hope everything turns out okay.

Re: More stress : update on the bottom

Posted by MrsS2005

FWIW, my beta hcg and Papp-A were both below the normal range with DS2. I had to go for genetic counseling and MFM. The genetic counselor freaked me out and said having both of the levels low could indicate a growth issue. The risks for Trisomy 13 and 18 were also higher than what they normally were for my age because of those low numbers. I couldn't sleep for weeks. Then, my quad screen results were above the normal range for spina bifida, again indicating a possible growth issue. I had a Level II ultrasound with MFM around 17 weeks and everything looked fine. I was monitored every 4 weeks at MFM for growth and starting at 32 week, I was monitored weekly by my OB with NSTs and sonos. DS2 was born healthy at 7 lbs 11 oz. I hope everything turns out okay.

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I had an abnormal nt scan as well. I think my measurement was 4.6 giving me a 1:5 chance of downs and other genetic abnormalities. That test gives so many false positives and honestly I would never put myself through that stress again by having the test. Just know it's not diagnostic. I totally understand how you feel. It was weeks of hell for me. I couldn't eat, sleep and I was crying constantly. I saw a genetic counselor who gave me a grim outlook. I saw a high risk dr for weeks afterward. Well they checked everything. I had a cvs, early anatomy scan, fetal echo, and every other test came back normal. There was nothing wrong with the heart. My ds was born completely healthy!

Hugs and prayers!!

Message edited 1/24/2015 8:54:03 PM.

Re: More stress : update on the bottom

Posted by KevinNKristin8-15-08

I had an abnormal nt scan as well. I think my measurement was 4.6 giving me a 1:5 chance of downs and other genetic abnormalities. That test gives so many false positives and honestly I would never put myself through that stress again by having the test. Just know it's not diagnostic. I totally understand how you feel. It was weeks of hell for me. I couldn't eat, sleep and I was crying constantly. I saw a genetic counselor who gave me a grim outlook. I saw a high risk dr for weeks afterward. Well they checked everything. I had a cvs, early anatomy scan, fetal echo, and every other test came back normal. There was nothing wrong with the heart. My ds was born completely healthy!

Hugs and prayers!!

Re: More stress : update on the bottom

Posted by MrsA1012

Posted by KevinNKristin8-15-08

I had an abnormal nt scan as well. I think my measurement was 4.6 giving me a 1:5 chance of downs and other genetic abnormalities. That test gives so many false positives and honestly I would never put myself through that stress again by having the test. Just know it's not diagnostic. I totally understand how you feel. It was weeks of hell for me. I couldn't eat, sleep and I was crying constantly. I saw a genetic counselor who gave me a grim outlook. I saw a high risk dr for weeks afterward. Well they checked everything. I had a cvs, early anatomy scan, fetal echo, and every other test came back normal. There was nothing wrong with the heart. My ds was born completely healthy!

Hugs and prayers!!

Thanks so much for sharing your hopeful story and congrats on your healthy son ! I think I will feel better once I meet with the perinatologist and the genetic counselor and have a better understanding of what this all means.

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Sending you positive thoughts your way!

More stress : update on the bottom

Thanks everyone, trying to stay positive. Wondering if this all over blown. the internet tells you so many different things. For those who've met with a maternal fetal md do most practices get you in quickly? I just really want to be seen soon to get more clarity.

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Mine got me in in one day. I go in the city.

Good luck!!

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These are not diagnostic tests. Do not get yourself worked up. I refused genetic counseling because I wasn't interested in hearing probabilities. It only serves to unnecessarily scare you.

Go see the MFM and see what they have to say. They got me in on the same day. I wish you lots of luck. Stay positive!

More stress : update on the bottom

Thanks so much for all the support. I called and left a message with the mfm group. Apparently they are quite backed up due the storm and they are leaving early, I hope someone calls me back today,but it seems unlikely with the weather. Ugh, more waiting :(

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sending you lots of good thoughts and prayers.

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