Hi everyone, My husband and I are expecting our first child. We should be super excited, but it seems like one difficulty after another. We recently found out we are both carriers of CF. (delta f 508 and y1092x) Needless, to say we are terrified. Today we had our ultrasound and they said our baby has an echogenic bowel. The doctor said this does not neccesarily mean CF, but it is a possibilty. I wanted to find out more about this, and if any of you had children with an echogenic bowel that either didn't have CF, or did and what happened when they were born. Since coming home from the ultrasound I have done nothing but cry. Thanks for your time, Melissa
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Echogenic Bowel
- Thread starter melissa
- Start date
Hi Melissa,
Congrats on your new arrival! This is a wonderful place to ask questions and get advice, i came to it everyday while i was pregnant.
Here's my story ~
I have a 11mo. old little girl who has cf. And a 3 1/2 yr old w/o. I found out i was a cf carrier with the new blood screen test here in Texas while i was pregnant with my youngest just last year. We had no clue we were carriers and as most stories go we have no history of cf on both sides of our family. My husband was tested and he came back a carrier too - our mutataions are Delta F508/1717-GA. One common and one rare. We opted to have an Amnio and of course she has both mutations. I was watched closely during my pregnancy and about 27 weeks the u/s started to show echnogenic bowel. I believe e/b is shown in some babies w/o cf but it is very common in babies with cf. I had an u/s done e/other week. It actually was more pronounced some weeks and barely there in some weeks?! But of course for us knowing she will have cf it was a scarey question of will she have meconium ileus at birth. Which i believe happens to about 20% of babies with cf. She was born 3 weeks early by emergency cesearn- section after a u/s showed her abdomen with desention. And i was measuring 41 weeks when they measured my belly. We had a pediatric surgean on call just in case she was to have meconuim ilues, which she did. She had surgery on her second day of life and was in the icu for 3 weeks. It was the longest 3 weeks of my life. She had an ileostomy bag for 5 months and then had surgery to close it back up. I will tell you it was hardest thing i have ever done looking back now. In some miraculous way this gave me the strength i thought i could never have. She has had a rough first year in the hospital 2x. But i would never in a million years trade what she has added to our family. I wish you the best and hope that your e/b doesn't mean the baby would have cf, but to be sure you would need to do an amnio. If it is not to late i would suggest it. Because if in fact your baby does have cf. You can meet with the cf doctors he/she will be seeing and they can set you up to meet other families to see what it day to day life is really like. We did and i think being prepared really helped us with what to expect. And if you baby does not have cf then you don't have to worry and you can enjoy your pregnancy a little more.
Again, best of luck,
Blythe
Mom to Brinly 11mo and Birgess 3 1/2yr
Congrats on your new arrival! This is a wonderful place to ask questions and get advice, i came to it everyday while i was pregnant.
Here's my story ~
I have a 11mo. old little girl who has cf. And a 3 1/2 yr old w/o. I found out i was a cf carrier with the new blood screen test here in Texas while i was pregnant with my youngest just last year. We had no clue we were carriers and as most stories go we have no history of cf on both sides of our family. My husband was tested and he came back a carrier too - our mutataions are Delta F508/1717-GA. One common and one rare. We opted to have an Amnio and of course she has both mutations. I was watched closely during my pregnancy and about 27 weeks the u/s started to show echnogenic bowel. I believe e/b is shown in some babies w/o cf but it is very common in babies with cf. I had an u/s done e/other week. It actually was more pronounced some weeks and barely there in some weeks?! But of course for us knowing she will have cf it was a scarey question of will she have meconium ileus at birth. Which i believe happens to about 20% of babies with cf. She was born 3 weeks early by emergency cesearn- section after a u/s showed her abdomen with desention. And i was measuring 41 weeks when they measured my belly. We had a pediatric surgean on call just in case she was to have meconuim ilues, which she did. She had surgery on her second day of life and was in the icu for 3 weeks. It was the longest 3 weeks of my life. She had an ileostomy bag for 5 months and then had surgery to close it back up. I will tell you it was hardest thing i have ever done looking back now. In some miraculous way this gave me the strength i thought i could never have. She has had a rough first year in the hospital 2x. But i would never in a million years trade what she has added to our family. I wish you the best and hope that your e/b doesn't mean the baby would have cf, but to be sure you would need to do an amnio. If it is not to late i would suggest it. Because if in fact your baby does have cf. You can meet with the cf doctors he/she will be seeing and they can set you up to meet other families to see what it day to day life is really like. We did and i think being prepared really helped us with what to expect. And if you baby does not have cf then you don't have to worry and you can enjoy your pregnancy a little more.
Again, best of luck,
Blythe
Mom to Brinly 11mo and Birgess 3 1/2yr
NoDayButToday
New member
I had echogenic bowel. Here's my basic story:
I was born in the stone ages (that is, before genetic testing). At my mom's 17 week sonogram, they saw the echogenic bowel. They told her it could possibly be a congenital defect or be caused by cystic fibrosis. After that, my had weekly (or maybe biweekly?) sonograms. At the end of March (I was due early May), the doctors were concerned after a specialist reviewed the sonograms, and wanted to deliver me then. My mom was sort of leery of this, given how early I would be, and so she called her childhood doctor, who told her that if I was delivered then, I wouldn't survive surgery with such premature lungs, especially not if I did have CF. So, my mom said she wanted to wait and had to sign papers saying she was aware of the risks, etc. etc. Once I was term (again, my mom knows the story much better than I do), they did an emergency C-section and I had emergency surgery. All in all, I was in for about 7 weeks and had 4 surgeries. I did not go home with an illeostomy bag, and once home, had no major problems for a few years. Good luck.
I was born in the stone ages (that is, before genetic testing). At my mom's 17 week sonogram, they saw the echogenic bowel. They told her it could possibly be a congenital defect or be caused by cystic fibrosis. After that, my had weekly (or maybe biweekly?) sonograms. At the end of March (I was due early May), the doctors were concerned after a specialist reviewed the sonograms, and wanted to deliver me then. My mom was sort of leery of this, given how early I would be, and so she called her childhood doctor, who told her that if I was delivered then, I wouldn't survive surgery with such premature lungs, especially not if I did have CF. So, my mom said she wanted to wait and had to sign papers saying she was aware of the risks, etc. etc. Once I was term (again, my mom knows the story much better than I do), they did an emergency C-section and I had emergency surgery. All in all, I was in for about 7 weeks and had 4 surgeries. I did not go home with an illeostomy bag, and once home, had no major problems for a few years. Good luck.
Thanks for your replies. We are so worried about our baby being in the hospital for weeks at the beginning of his/her life. I have a few more questions..
1. Do all babies with echogenic bowel have to have surgery when born?
2. Does the echogenic bowel ever go away? (the doctor we saw yesterday wants to see us again in 4 weeks to see if there is improvement.)
3. Does anyone know if a baby can have echogenic bowel and be a carrier and not have the disease?
Sorry for all the questions. We are still clinging to some hope that this child might not have CF. Please tell me if you think this is unrealistic based on what the ultrasound showed yesterday. Thanks, Melissa
1. Do all babies with echogenic bowel have to have surgery when born?
2. Does the echogenic bowel ever go away? (the doctor we saw yesterday wants to see us again in 4 weeks to see if there is improvement.)
3. Does anyone know if a baby can have echogenic bowel and be a carrier and not have the disease?
Sorry for all the questions. We are still clinging to some hope that this child might not have CF. Please tell me if you think this is unrealistic based on what the ultrasound showed yesterday. Thanks, Melissa
Melissa,
You can look up the mutation here: <a target=new class=ftalternatingbarlinklarge href="http://genet.sickkids.on.ca/cgi-bin/WebObjects/MUTATION.woa/wo/X64000kE400JO500Sf/2.0.9
">http://genet.sickkids.on.ca/cgi-bin/WebObjects/MUTATION.woa/wo/X64000kE400JO500Sf/2.0.9
</a>
From what little it says, it looks like it's a very rare mutation that does cause "classic cf". By classic cf, I think they just generally mean that your child will probably be pancreatic insufficient and need to take enzymes. Approx 85% of cfers ARE pancreatic insufficient. They can't predict the severity of the lung disease by mutation though, ONLY whether the patient is pancreatic sufficient or not (again most are NOT). As to the question of whether your child has cf, since he/she has echogenic bowel, I would suggest <b>preparing</b> yourselves as though your child does have cf. If he/she is born and is only a carrier, you will be pleasantly surprised and relieved. Good luck. And know that the future for cfers born today looks very bright. Your child can have a good life.
~M
You can look up the mutation here: <a target=new class=ftalternatingbarlinklarge href="http://genet.sickkids.on.ca/cgi-bin/WebObjects/MUTATION.woa/wo/X64000kE400JO500Sf/2.0.9
">http://genet.sickkids.on.ca/cgi-bin/WebObjects/MUTATION.woa/wo/X64000kE400JO500Sf/2.0.9
</a>
From what little it says, it looks like it's a very rare mutation that does cause "classic cf". By classic cf, I think they just generally mean that your child will probably be pancreatic insufficient and need to take enzymes. Approx 85% of cfers ARE pancreatic insufficient. They can't predict the severity of the lung disease by mutation though, ONLY whether the patient is pancreatic sufficient or not (again most are NOT). As to the question of whether your child has cf, since he/she has echogenic bowel, I would suggest <b>preparing</b> yourselves as though your child does have cf. If he/she is born and is only a carrier, you will be pleasantly surprised and relieved. Good luck. And know that the future for cfers born today looks very bright. Your child can have a good life.
~M
Also, wanted to say that since you and your dh are both carriers and your baby does have echogenic bowel, it is quite likely that he/she does have cf. Only a genetic test can tell you for sure though. As far as whether he/she will require surgery or not for meconium ileus, some babies do not. Try searching this site for meconium ileus and echogenic bowel and you should get a wide range of stories. Also, <i>even if your child does have meconium ileus.</i> just knowing ahead of time will make a huge difference in the outcome. The drs will be prepared. You'll likely deliver in a children's hospital with a team of specialists ready <i>in case your child needs surgery.</i> Not all children that have MI do need surgery, some pass it on their own. And, even if he/she needs surgery, since you'll know early, it won't be an emergency surgery. Good luck and keep us posted.
Melissa,
Not every baby with e/b does turn out to have meconium ileus. But since you and your husband are carriers of the cf gene your likelihood is much greater that your baby showing e/b will have cf. The chances are 25% it will have cf, 25% chance it won't and 50% it will be just a carrier. If it does have cf and has m/i then sometimes the baby will pass it's first stool with help of an enema and mucamist within the first week don't wait past 10 days!We were not so lucky Brinly's stool was way up in her small intestine and they tried everything to prolong surgery. But it would have taken them months and of course that was not an option. I am sure every doctor and situation is different but i think waiting 4 weeks for another sonogram is way to late to wait especially if you are past 20 weeks pregnant. I am sorry the amnio didn't work and i would not want to put your baby & you through that again either!! Even if the e/b improves it doesn't mean your baby still won't have cf and m/i when he/she is born. I really thought we were out of the woods towards the end of my pregnancy b/c the e/b did improve. I even took Omega-3 pills b/c i heard this would help and her stomach in the end was expanding in my womb b/c nothing was passing properly due to m/i. I know what your feeling, it brings back memories just reading your posts. I basically cried for about 3 months and then i started to understand that cf is not as bad as it sounds. I relate it to diabetes~ it is a chronic disease that you can manage and life goes on. I am not going to lie to you when things are bad it is bad, but when things are good it is fabulous! I don't think you're being unrealistic that the baby won't have cf, there is that 25%chance, but because you have the cf genes it could be a real possibilty. My doctor said Brinly's e/b wasn't that "bright" and if we didn't know she had cf he wouldn't even think twice about it. So in my opnion your doctor should be concerned too b/c of your gene factor. The best advice i can give is BE PREPARED educate your self as much as possible. Your doing a great job by posting here!! No matter what try to enjoy your pregnancy everything will be fine even if at its worse and if you have to go through m/i, surgery and finding out if your baby does have cf. It will be okay! Brinly is the most precious baby and you would never know she has cf looking at her. We just went to playgroup with other kids and she is now sleeping like a rock from playing so much!!
Blythe
Not every baby with e/b does turn out to have meconium ileus. But since you and your husband are carriers of the cf gene your likelihood is much greater that your baby showing e/b will have cf. The chances are 25% it will have cf, 25% chance it won't and 50% it will be just a carrier. If it does have cf and has m/i then sometimes the baby will pass it's first stool with help of an enema and mucamist within the first week don't wait past 10 days!We were not so lucky Brinly's stool was way up in her small intestine and they tried everything to prolong surgery. But it would have taken them months and of course that was not an option. I am sure every doctor and situation is different but i think waiting 4 weeks for another sonogram is way to late to wait especially if you are past 20 weeks pregnant. I am sorry the amnio didn't work and i would not want to put your baby & you through that again either!! Even if the e/b improves it doesn't mean your baby still won't have cf and m/i when he/she is born. I really thought we were out of the woods towards the end of my pregnancy b/c the e/b did improve. I even took Omega-3 pills b/c i heard this would help and her stomach in the end was expanding in my womb b/c nothing was passing properly due to m/i. I know what your feeling, it brings back memories just reading your posts. I basically cried for about 3 months and then i started to understand that cf is not as bad as it sounds. I relate it to diabetes~ it is a chronic disease that you can manage and life goes on. I am not going to lie to you when things are bad it is bad, but when things are good it is fabulous! I don't think you're being unrealistic that the baby won't have cf, there is that 25%chance, but because you have the cf genes it could be a real possibilty. My doctor said Brinly's e/b wasn't that "bright" and if we didn't know she had cf he wouldn't even think twice about it. So in my opnion your doctor should be concerned too b/c of your gene factor. The best advice i can give is BE PREPARED educate your self as much as possible. Your doing a great job by posting here!! No matter what try to enjoy your pregnancy everything will be fine even if at its worse and if you have to go through m/i, surgery and finding out if your baby does have cf. It will be okay! Brinly is the most precious baby and you would never know she has cf looking at her. We just went to playgroup with other kids and she is now sleeping like a rock from playing so much!!
Blythe
Hi,
It's Kathy (Coll's Mom). Colleen knows her birth/early life story well! One correction - there was amnio when I was pregnant with her. However in my opinion it had a high error rate at the time, was newer & considered riskier to do - so I opted not to do amnio. In retrospect, if I had to do it over again, I would find out - I think it would have been better to know and prepare emotionally.
Anyway, I just wanted to mention that Colleen had two problem areas (jejeunal atresia & meconium ileus) and it would probably be considered a fairly severe form of intestinal blockage. Some are not as involved to treat - I believe some are resolved with enemas.
Best of luck, Kathy
It's Kathy (Coll's Mom). Colleen knows her birth/early life story well! One correction - there was amnio when I was pregnant with her. However in my opinion it had a high error rate at the time, was newer & considered riskier to do - so I opted not to do amnio. In retrospect, if I had to do it over again, I would find out - I think it would have been better to know and prepare emotionally.
Anyway, I just wanted to mention that Colleen had two problem areas (jejeunal atresia & meconium ileus) and it would probably be considered a fairly severe form of intestinal blockage. Some are not as involved to treat - I believe some are resolved with enemas.
Best of luck, Kathy
B
benfidelia
Guest
hi me and me 7 yr old bruf hav cf
Melissa,
My son was born with meconium illeus. His sister had cf, so we knew that the bright bowel meant he had cf as well. He avoided surgery because we (the surgeon and I) had a plan ahead of time. My son also did not have the intestine severed anywhere which would have required surgery. I received a lot of advice about what to do about a baby with bright bowel and possible meconium illeus. E-mail me at sdelorenzo@sbcglobal.net and I can forward some info to you.
Sharon, mom of Sophia, 3.5 and Jack, 1.5 both with cf
My son was born with meconium illeus. His sister had cf, so we knew that the bright bowel meant he had cf as well. He avoided surgery because we (the surgeon and I) had a plan ahead of time. My son also did not have the intestine severed anywhere which would have required surgery. I received a lot of advice about what to do about a baby with bright bowel and possible meconium illeus. E-mail me at sdelorenzo@sbcglobal.net and I can forward some info to you.
Sharon, mom of Sophia, 3.5 and Jack, 1.5 both with cf
B
benfidelia
Guest
well ime only 14 so ive got a bumpy ride 2 go yet alot of ups and downs and me bruf well same wiv him but hes 7 so more dan him coz ive been throw alot all ready ben
NoDayButToday
New member
Thanks for clarifying/elaborating Mom<img src="i/expressions/face-icon-small-smile.gif" border="0">
B
benfidelia
Guest
dat was me
Hi Melissa,
My name is Jen, I'm 26 weeks pregnant and found out on April 18th that my baby will have CF (via amnio). The doctors did see an echogenic bowel during my 16 week u/s which was done the same day as my amnio. The wait was horrible. The echogenic bowel diagnosis did not help it either. But, don't diagnose your baby with CF just yet, these test can be WRONG. I did a lot of research and learned that echogenic bowel is common in the first trimester and is normally just an effect of the u/s machine. Keep us posted and I hope you get good news.
Jen
My name is Jen, I'm 26 weeks pregnant and found out on April 18th that my baby will have CF (via amnio). The doctors did see an echogenic bowel during my 16 week u/s which was done the same day as my amnio. The wait was horrible. The echogenic bowel diagnosis did not help it either. But, don't diagnose your baby with CF just yet, these test can be WRONG. I did a lot of research and learned that echogenic bowel is common in the first trimester and is normally just an effect of the u/s machine. Keep us posted and I hope you get good news.
Jen