Hi All,I am pregnant with my first child, due June 3. An ultrasound finding of echogenic bowel at 20 weeks lead us into a tailspin that has resulted in us finding out that both my husband and I carry CF mutations. We have declined amnio so we don't know for sure that our little girl has CF, but the bowel findings would suggest that it's more than likely. we are learning a great deal and feel very lucky to have been alerted to this prenatally so she can receive the best treatment right from the start. There are two questions however that I'm not getting adequate information on and was hoping to find some answers in this forum.Firstly, Does anyone have experience with echogenic bowel findings on an ultrasound. At 20 and 25 weeks all that was visible was the echogenicity (and the gallbladder was clearly visible). At 29 weeks fluid filled loops were also apparent. We have now been referred to a surgeon to discuss the possibility of her requiring surgery at the time of birth for meconium ileus. We are unable to meet with the surgeon for several weeks and I am now very worried about this surgery. How serious it is, how long she'll be in the hospital etc, how long after her birth is it done. Any information would be greatly appreciated.My second question is regarding mutations. Our girl will be DelF508/3659delc if she has CF and I have been able to find very little information on the 3659delc mutation. I would love to hear from anyone who has this mutation, particularly if it's in combination with DelF508.Thanks so much for taking the time.Lisa
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Meconium Ileus and 3659delc mutation
- Thread starter Gwenie
- Start date
Welcome! My baby who has CF is being born in July. She has some mild signs of echogenic bowels on her ultrasounds as well, but we have 1717-1G->A/Del508. We go in every two weeks for ultrasounds to watch for it. Your mutation combintation is a pancreatic insufficient mutation, like the majority of CFers:http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=1376016Right now, that is all they have been able to conclusive conclude between genotype and phenotype. One good thing is the sooner you know the better chance your child will have to life a healthy and happy life. Good luck,BradDad to a 3 year old w/oCF and a -4 month old w/CF
Hi Lisa,Congratulations on the upcoming birth of your child! I have two daughters, one 3 years old and one 13 months old. Both my girls have CF. They carry the genes deltaF508 and G542X. They both presented with an echogenic bowel at the 20 week ultrasound. We also did not have any amnio and chose to wait until their births. With my younger daughter I also had extremely high amniotic fluid and was measuring very large for my dates.Both girls were born with meconium ileus. My 3 year old passed this blockage on her own after a week in the NICU. We were then able to take her home. My 13 month old was not successful at clearing this blockage and doctors were not able to assist her clearing this without surgery (some things they did were give her an enema and do rectal flushing). She had surgery at 5 days old. Sometime after this type of surgery they give the infant a TEMPORARY ileostomy and my daughter was given a temporary ileostomy. She remained in the NICU until she started gaining weight (she also had difficulties nursing so we were in there longer than expected). Our total time in the NICU was 23 days. Her ileostomy was a little difficult to get used to but we managed fine and it gave her intestines time to heal. She had a second surgery at 3 months old (they wanted her weight up to 11 lbs.) and they reversed the ileostomy and now all she has left is a small scar on her tummy. An expected recovery in hospital with this reversal surgery is from 5- 10 days (as long as it takes for the baby to begin eating regularly and having normal bowel movements).I hope this has answered you questions. My girls are beautiful and very healthy despite their CF. If I can answer anything else, please ask on this forum.Good luck!
I have a two year old girl with cf as well as six month old boy with cf. They both have double deltaF508. My son showed an echogenic bowel on the 24 week ultrasound. We were told that there was a 99% chance now that my son had cf. We did not choose to have an amnio. I had an ultrasound every two or three weeks after that. My son's bowels soon started to loop and expand. I asked a lot of questions of people in the same situation last summer and I spoke to as many doctors/surgeons as I could to try and find out what we could expect. I learned that the calcifications that the perinatal doctor was seeing on the ultrasound screen meant that the bowels had already ruptured/leaked. Well this was very alarming to me. But I was reassured that the bowels can easily close up and this is not a reason to deliver early, etc. The main goal is to get to full term so the baby's lungs will fully develop. I also had a surgeon tell me that I WOULD NOT make it to full term and the baby would know something was not right and I would deliver early. That really scared me. Anyway, that doctor was out of line, and I was induced just a week before my due date- a full term baby at 7 and a half pounds. After delivery, my son's stomach started to swell. We had spoken (while I was pregnant) to a well known pediatric surgeon in Houston (where we live). He recommended that if my son did have blockage at birth we give my son IV feedings and gastrografin enemas for up to 10 days. Well my son's intestines finally cleared on the morning of day 10, just hours away from scheduled surgery. What a blessing to avoid surgery. If you want to e-mail privately(sdelorenzo@sbcglobal.net), I have some more info/correspondence with other parents who have been through this that I could send you. My children are just beautiful and I feel so blessed to have them in my life. Sharon -
Our daughter, now 4 1/2 have meconium ileus at birth. She was vomitting and never passed her meconium by the time she was two days old, so she was taken to another hospital where they performed surgery. She was in the hospital for about 12 days. This made it almost impossible for me to breastfeed. She had a colostomy bag for three months and had to go in for another surgery to close it up. She now has two scars, but is having normal bowel movements and we haven't had any intestinal problems to date!!!You're lucky in the fact that you have a head's up that your baby may have CF. We were clueless. We knew nothing about CF and didn't know we were carriers. Because you know, you can have everything set for when the baby arrives. Unfortunately, I don't know much about the 3659delc mutation. When I first found out my daugher had CF I inundated myself with information and I burned myself out and worried myself way too much. Now I just do basic information searches and it has made my life much easier.Good luck to you. Please feel free to email if I can give you any more info.Theresa Upshawgupshaw@frontiernet.net
Hi There,My son Matthew presented with a echogenic bowel at the 20 month scan, however the person who did the scan didn't know what it mean't and they rescanned 2 weeks later and it didn't present echogenic then.I am not really sure why.He didn't have the Meconium ileus at birth in fact he had poo all through the amniotic fluid.I also had a large quantity of fluid as well.Good luck to you, I found out when he was 2 weeks old and the prompt treatment has definately been to his advantage.Rebekah Lambertmother to Matt 11mths w/CF
Hi Lisa,I am 25 weeks pregnant with a little girl who has CF. Due on July 13th. We did choose to have an amnio so we know for sure she has our mutations.(Delta F508/1717IG-A) I am having sonograms every 2 weeks and they have found echogenic bowel. But my doctor says it is not enough to be concerned and sometimes non CF babies have echogenic bowel to some degrees too? I am surprised that you guys have been reffered to a surgeon- i have asked my doctor if we should worry about the issue of Meconium ileus and if we should talk to NCIU doctors to be prepared. He reasurred me that there will be a staff of NCIU doctors during labor and they will be prepared to take our baby into surgery if needed? I have also been told that sometimes it becomes apparent 13-24 hours AFTER labor?!? Have you meet with the surgeons yet?In regards to your mutaions~ my husband has done alot of research and it seems like your mutaions are similair - one common gene with one rare gene? Which could be a good balance! We are hoping that our little girl will only have pancreatic issues. Of course, it seems every CF case is different so we won't know until she is here! Since we are in the somewhat same situation ~ Or just for support!If you would like to talk more directly, please email me at blythe.weston@comcast.netBlythe
I just had a baby boy on 03/23/04 and he did not have an echogenic bowel at the ultra sounds - I had them every 4 weeks because we did choose to have the amnio. At birth he didn't pass his meconium and was then diagnosed with Meconium Ileus. The Neonatologists that took care of him did a Barium Enema to find the blockage and hoped that it would pass the meconium - which it did. We were lucky to not need the surgery. My sugestion would be to talk to the Dr.'s taking care of him and find out there course of action. Ours wanted to try something much less invasive than surgery which made me very happy. He stayed 8 days in the NICU to make sure he didn't have any other problems.Good luck to you and Congrats! You can email me directly if you have anymore questions debhain@comcast.net