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Prevalence of cystic fibrosis in fetuses with dilated bowel
J A Estroff1, R B Parad, B R Benacerraf
1Department of Radiology, Children's Hospital, Boston, MA.
Insights
Prenatal ultrasound showing dilated small bowel loops in fetuses may indicate cystic fibrosis (CF). About one-third of fetuses with this finding had CF, highlighting the need for further research.
Area of Science:
- Medical imaging
- Genetics
- Prenatal diagnostics
Background:
- Dilated bowel loops distal to the duodenum on prenatal ultrasound can be a concerning finding.
- Identifying the underlying causes, such as cystic fibrosis, is crucial for appropriate management.
Purpose of the Study:
- To determine the prevalence of cystic fibrosis (CF) in fetuses presenting with dilated bowel loops on ultrasonography.
- To assess the correlation between sonographic findings and the presence of CF.
Main Methods:
- Retrospective review of ultrasonographic images and medical records of 15 fetuses.
- Inclusion criteria for dilated bowel loops involved subjective assessment and luminal measurements.
- Diagnostic confirmation of cystic fibrosis was based on established clinical criteria.
Main Results:
- Five out of 15 fetuses (33%) were diagnosed with cystic fibrosis.
- Among fetuses with bowel obstruction at birth, 36% had cystic fibrosis.
- One fetus without bowel obstruction also had cystic fibrosis.
- No significant sonographic differences were noted, except for echogenic small bowel with shadowing in one third-trimester CF fetus.
- All fetuses with persistent dilated bowel loops required surgery.
Conclusions:
- A significant proportion of fetuses with antenatal dilated bowel loops have cystic fibrosis.
- Prenatal diagnosis of cystic fibrosis should be considered in fetuses with these ultrasonographic findings.
- Further research is needed to establish the precise risk of cystic fibrosis in this fetal population.
Abstract:
The authors reviewed the ultrasonographic images and medical records of 15 consecutive fetuses with dilated loops of bowel distal to the duodenum and determined the prevalence of cystic fibrosis among them. The criteria for dilated bowel loops included both subjective criteria and luminal measurements. Five of the fetuses (33%) had cystic fibrosis. Eleven had bowel obstruction at birth, and four of those 11 (36%) also had cystic fibrosis. One of the four fetuses without bowel obstruction at birth had cystic fibrosis. There were no differences in sonographic findings between fetuses with and without cystic fibrosis, except that one third-trimester fetus with cystic fibrosis had echogenic small bowel with shadowing. All of the fetuses with dilated bowel loops persisting at birth required surgery. Further studies are indicated to determine the exact risk of cystic fibrosis in this population.