I was wondering if anyone knew what percentage of children who present on ultrasound with echogenic bowel actually have cystic fibrosis? My sister's unborn dd presented with grade II echogenic bowel at her 16 week ultrasound (bowel is as bright as bone but not brighter). The perinatologist referred her for a battery of testing - cf carrier tests, testing for various infections that can cause echogenic bowel, etc. (Referred to the peri due to advanced maternal age - >40.) She said sometimes echogenic bowels will simply be a fluke which will clear up by the next ultrasound and the child will have no known condition or birth defect. Sometimes it can be a result of down's syndrome (no other markers were found for down's and my sister declined the amnio). Sometimes infection (she had immunoglobulin levels tested for various infections and had a TORCH test), and sometimes it can be due to cf (hence the carrier testing). ALL tests, carrier testing included were negative. Her OB (not the peri) said this ruled cf out. My sister is aware that statement is incorrect (due to my story, see below). Ok, so this is my question, does anyone know what the risk is that a child will have cf if they present with echogenic bowel on US??? Or, have any links to articles that address this? I can't seem to find anything conclusive.
Obviously, I am concerned for my sister; however, I am concerned for my child as well. DS is 8 and has a long history of asthma and chronic sinusitis dating back to infancy (approx 5 months of age). DS's sinusitis is refractory to medical treatment and surgical treatment (had surger 4 years ago, but sinuses were back to same condition within months of surgery.) He does not have polyps, or at least did not at his last ct scan (3 years ago). We've refused anymore ct scans because it doesn't change anything unless we opt to do another sinus surgery. (We're waiting until ds's older.) He also has mildly clubbed fingers and toes (NO ONE else in our family does), and although he was at the 95% at birth, he now struggles to maintain the 7% for ht/wt. DS was sweat tested by an accredited cf center's satellite clinic 4-1/2 yrs ago. He scored a 10 but they barely got enough sweat (needed 75 grams I think or is it mg? and they got 77). He also had a completely negative genetics test through genzyme so at this time, he's considered neg with only a very small residual risk of it being a "false" negative. His ENT was really surprised his tests were neg, both his pulmo and allergist felt like he has characteristics of cf BUT now all consider him neg due to the testing. Now that my sister's unborn dd is presenting w/echogenic bowel, it has me concerned again that ds could have cf as well as my unborn niece. Ok, paranoid, really<img src="i/expressions/face-icon-small-wink.gif" border="0"> DS is doing really well at the moment, no antibiotics in 4 months, no prednisone in over a year, only the slightest cough and not every day either (related to sinuses.) No asthma flares since December. He's on advair 250/50, singulair, zyrtec, and allergy shots (same routine for last 2-1/2 yrs the last year of which he's been really healthy). This is wonderful for him so I know I should be happy (ds has had no hospitalizations but has had approx 50+ rounds of oral antibiotics, some up to 6 wk courses plus one round of IVs and dozens of rounds of prednisone so obviously, he is doing really well right now). Should I persue further testing on my ds??? Or just relax and see what happens with my niece and persue if she ends up dx w/cf?? Oh, also ds's lung function is really good, FEV1 ranges between 85% of predicted when sinuses are bad up to 126% when completely well. He's never had pfts at his worst.
Thanks! Sorry this is so long.
Obviously, I am concerned for my sister; however, I am concerned for my child as well. DS is 8 and has a long history of asthma and chronic sinusitis dating back to infancy (approx 5 months of age). DS's sinusitis is refractory to medical treatment and surgical treatment (had surger 4 years ago, but sinuses were back to same condition within months of surgery.) He does not have polyps, or at least did not at his last ct scan (3 years ago). We've refused anymore ct scans because it doesn't change anything unless we opt to do another sinus surgery. (We're waiting until ds's older.) He also has mildly clubbed fingers and toes (NO ONE else in our family does), and although he was at the 95% at birth, he now struggles to maintain the 7% for ht/wt. DS was sweat tested by an accredited cf center's satellite clinic 4-1/2 yrs ago. He scored a 10 but they barely got enough sweat (needed 75 grams I think or is it mg? and they got 77). He also had a completely negative genetics test through genzyme so at this time, he's considered neg with only a very small residual risk of it being a "false" negative. His ENT was really surprised his tests were neg, both his pulmo and allergist felt like he has characteristics of cf BUT now all consider him neg due to the testing. Now that my sister's unborn dd is presenting w/echogenic bowel, it has me concerned again that ds could have cf as well as my unborn niece. Ok, paranoid, really<img src="i/expressions/face-icon-small-wink.gif" border="0"> DS is doing really well at the moment, no antibiotics in 4 months, no prednisone in over a year, only the slightest cough and not every day either (related to sinuses.) No asthma flares since December. He's on advair 250/50, singulair, zyrtec, and allergy shots (same routine for last 2-1/2 yrs the last year of which he's been really healthy). This is wonderful for him so I know I should be happy (ds has had no hospitalizations but has had approx 50+ rounds of oral antibiotics, some up to 6 wk courses plus one round of IVs and dozens of rounds of prednisone so obviously, he is doing really well right now). Should I persue further testing on my ds??? Or just relax and see what happens with my niece and persue if she ends up dx w/cf?? Oh, also ds's lung function is really good, FEV1 ranges between 85% of predicted when sinuses are bad up to 126% when completely well. He's never had pfts at his worst.
Thanks! Sorry this is so long.