Chromosome abnormality.

whoaitsnikki · August 2014

Yesterday at my OB appointment they said that they saw some bright spots on the bowels during the ultrasound. (When I was in the hospital for neuro problems a few weeks ago they also mentioned that.) The doctor said that this can be an indicator of a chromosomal abnormality. There is also some gender ambiguity. (We had an elective ultrasound where they said it was a girl, but that her parts were just swollen.) I had the testing for downs/spinabifida earlier in my pregnancy and that came back fine. Has anyone had experience with this? They are trying to get me in with Children's & Women's hospital here ASAP but between this and my neuro problems, I'm at my wits end. I've done nothing but cry because all I want is for my baby to be ok. I can deal with problems with me, but not my baby. Oh, they also said that I have a hernia that may need to be repaired after birth, that is causing a bulge above my belly button. Sorry if this is all hard to understand, but I'm upset and could use some advice. Thanks.

runningmama14 · August 2014

Oh hun, I'm so sorry. I can only imagine how stressed you are right now. I wish I had good advice, but I have no experience. I hope they can get you into a specialist soon. Until then, you are in my toughts and prayers.

mslynn2012 · August 2014

No advice but keeping you and baby in my thoughts

scarlet3egonias · August 2014

I'm so sorry you're going through so much at once. That really sucks. Try not to freak out about the ultrasound until you've got more information though (I know that is easier said than done). There is no sense in worrying. I hope you get some answers soon. I would take comfort that all your other tests have come back good though. In the meantime, take care of yourself! It's just as important for the baby to have a happy mama!

absolutelymaybe · August 2014

I don't have any experience with this, just wanted to say how sorry I am you are dealing with all this. I hope everything turns out ok.

whoaitsnikki · August 2014

Thank you guys. It's hard not to think about it being stuck at home everyday but I'm trying to tell myself that since the blood test came back ok, then maybe the ultrasound machines they used were just crappy. Hopefully they will do the level 2 and it will show nothing major. I really don't want to do the amnio but if it will give us answers I'll do it.

Maelara · August 2014

I have no experience but I just wanted to say Im thinking of you and your baby. Hugs and love being sent your way!

CariLS8 · August 2014

I'm so sorry you're going through this. I, like the others, have no experience. Just try to be positive until you've received all the medical answers from doctors. Good luck to both you and the LO. I really hope everything is okay and you can relax and enjoy the pregnancy. Prayers and love sent your way, dear.

minibean16 · August 2014

I hope you get into the specialist quickly. You and LO will be in my thoughts.

AnnieRoo13 · August 2014

Another poster without experience here. I just wanted to say I'm sorry you have to deal with this. I can't imagine how much you are worrying. Try to stay positive and stay off google if you can.

lovingaddi · August 2014

I'm so sorry, positive thoughts and prayers for you and baby

KMW08 · August 2014

No experience or advice. I agree with aragosta. Sending Ts & Ps your way.

whoaitsnikki · August 2014

I had an ultrasound around 13 weeks, I'm not sure if it was just for the NT scan or not, but I haven't had any mention of the possibility of any problems until now. Thank you guys for making me feel better. It's also good to know I'm not alone.

schrijiver · August 2014

No experience or guidance here, but just wanted to let you know you are in my thoughts and prayers!

staugustinewedding · August 2014

So sorry you are dealing with this. Take comfort in knowing that your other major tests came back fine and that overall baby looks healthy. I know it's hard to relax until you have the answers, but in the meantime just try to stay calm for baby..she feels your stress! I'm thinking of you and your family and hoping you get good news soon!

crizz13 · August 2014

I have nothing new to add....but just like everyone above, I'm thinking of you!

rox825 · August 2014

I'm sorry that you're dealing with this and hope everything turns out to be ok.

moroccojade · August 2014

I also send you lots of love and hope that you get some answers and some real solutions if there are indeed issues. This "not knowing" is so very hard.

clumsyatheart · August 2014

I have some advice: don't panic!! All of my blood tests came back okay, but at my 18 week US, the doctor found apparent skull abnormalities, along with cloudy kidneys, which could have meant my baby's frontal skull suture might have closed or was at risk of closing before birth. I was TERRIFIED. I had to wait 6 weeks and sobbed to my regular OB. I even blamed myself for missing a few prenatals and having Hashimotos Thyroidensis. I was so afraid her skull could have completely closed, but when i went back two weeks ago, SHE WAS TOTALLY OKAY!!! It was placement and age, apparently. So i just want to say that i'm sending all of the hugs ever, and some serious positive thinking. How far along were you at the US? Baby could have been stubborn or not far along enough for a good showing

keep us updated and take care of yourself!! I know it's easier said than done when it comes to not worrying, but i found it helpful to get up every day, put my hand on my tummy, and tell baby everything would be okay. Calmed me down a bit

HUGS

kaimee27 · August 2014

I don't have any advice for this other than to do what it sounds like you're already doing and get follow up testing done, but I'm so sorry that you're going through this. T&P for you and your LO!!

musicalmommy3 · August 2014

Sending love to you right now. We had this exact issue as well as they thought there was something wrong with her nasal bone. We went through the testing and the colour in her bowel was due to bleeding that I was having and she swallowed. The nasal bone was fine just had issues seeing it on the ultrasound.

Remember they are soft markers indicators. We did further genetic testing which made us not worry as much too. We passed on the amnio when the doc said our chances were 1 in 100,000.

Try to relax and keep us updated on any further testing you have.

musicalmommy3 · August 2014

Oh also my blood tests came back okay too. So hard not to stress. I've totally been there.

Kristy774 · August 2014

I am so so sorry you are going through this. No advice but thoughts and prayers!

lizzielu82 · August 2014

Hugs to you and sorry you are having this extra stress. Sending lots of positive vibes your way and please keep us updated xo

JustJainey · August 2014

Thinking of you and the LO. Hoping you get some more answers soon when you see the specialists.

jess123456 · August 2014

Hugs to you. I do have experience with this in a previous pregnancy with my daughter but not with the same markers as your baby. Our daughter did however have a very rare and fatal trisomy. There were far more markers on the scan than what you are noting (too upsetting to mention in the forum) but I know how scary it is to get this news. I am very hopeful for you that it isn't something chromosomal and hopefully it will resolve itself but we found a ton of support through a genetic counselor and getting additional opinions and testing done. I have friends who had soft markers on their kids ultrasounds and everything was just fine and I am thinking positive thoughts for you. Please do keep us posted and feel free to private message me anytime.

Jpinky9 · August 2014

I have no experience or advice to offer but I wanted to send lots of hugs and positive thoughts to you and baby. I am so sorry you are having to go through all of this!

mexinugget · August 2014

just wanted to say i'm so sorry. I'm thinking of you, sending thoughts and prayers that everything is ok and will resolve.

ccam · August 2014

I'm so sorry that you're going through this.

smboswell1 · August 2014

Hugs!

missnacholover · August 2014

No advice, just hugs. Hang in there, OP.

sAAmFam · August 2014

Thinking of you and your sweet baby. Not knowing the outcome sucks. The majority of the time the specialists say everything is fine. So we will all pray for you.

krgriffin26 · August 2014

Sending some love your way!

LittleLadyAKS · August 2014

No experience but I am thinking of you and hoping for the best for you and your sweet baby.

silverwings72 · August 2014

Plead keep us posted on your next appointment. There is lots of love and support here for you and baby. Prayers for you both.

whoaitsnikki · August 2014

Thank you everyone. I was 25 weeks yesterday for the ultrasound and then I had an ultrasound when I was admitted to the hospital for neuro testing on July 18th. They both showed the bright spots. It makes me feel so much better that I at least have you guys to talk to because I don't know how to talk to anyone else about it without crying.

dbgwife · August 2014

I'm sorry your dealing with this all! I have no experience personally, but I'm praying for you both!

mander82 · August 2014

I am so sorry you are dealing with this. I hope everything turns out ok.

MrsDL · August 2014

So sorry you have to worry about this. I'm assuming by blood work you had the NT (which is just a screening, it's not diagnostic either way) or did you have testing like Materniti21/Panorama, etc.? If you didn't have the latter, maybe ask your doctor about having this test - just a blood draw but they isolate the fetal DNA from your blood and are accurate in detecting most common chromosomal abnormalities including sex chromosomal disorders. It's just a blood-draw and non-invasive like amnio. Because you had a soft marker, your insurance would likely pay for it (but check to be sure). Results back in about 10 days.

My friend had echogenic (white spots) bowel and heart that didn't show-up earlier, but showed-up on AS. Her doctor freaked her out and told her it was most likely T13 or 18 and started talking about next steps - amnio then termination before she missed her state's cut-off. She declined, her daughter was born perfectly healthy and turned 3 in June. Most of the time this does turn out to be nothing, your doctor has to inform you, refer you for further investigation. It's terrible that these things will stress anyone out and it's impossible not to worry, but most times everything is OK. Hugs to you.

tigerlily46 · August 2014

I'm going through this too. They said my baby has a hypoplastic nasal bone, which is a marker for Down's. I had the panorama test, and it was all low risk. I'm still freaked out because the panorama still has like .6% false negatives, but I don't think I'm going to do amnio.

I also had a soft marker with my first pregnancy, an echogenic intracardiac focus in the heart. I had a fetal echo and it was normal. My baby was born with no chromosomal issues. He's a smart, funny normally developing 2 year old.

As far as soft markers go, echogenic bowel is a pretty weak one. I doubt they'll recommend amnio unless it's for your peace of mind.

Sarahbeth612 · August 2014

Sorry you are going through this, I'm sure it's stressful. Hoping you can find some answers and peace of mind. Hugs

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