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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Prognostic implications of fetal echogenic bowel.

BACKGROUND: An increased frequency of hyperechogenic bowel on ultrasound has been reported in fetuses with cystic fibrosis ( CF) and trisomy-21. However, the diagnostic application of this observation has been hampered by the absence of a means of measuring echogenicity. METHODS: We devised an ultrasonic grading system in which echogenicity was quantified by linear gain reduction and comparison with fetal iliac crest. From 7400 second-trimester ultrasound referrals, 145 patients were identified as having a fetus with abnormally echogenic bowel. They were offered genetic counselling, parental and (if appropriate) CF carrier testing, and amniocentesis for karyotype and CF status if parents were informative. Follow-up was to 4 months of age. FINDINGS: Of 40 fetuses with mild increase in bowel sonodensity (grade 1), none had CF or aneuploidy. Of 81 patients identified with a moderate increase (grade 2), 2 had trisomy 21 and 2 had CF. And of 24 pregnancies with a pronounced increase (grade 3), 5 had CF and 6 had trisomy-21. INTERPRETATION: Parental CF carrier testing and amniocentesis to identify aneuploidy or fetal CF status has a high positive ascertainment rate in fetuses with echogenic bowel grades 2 and 3.[1]

References

  1. Prognostic implications of fetal echogenic bowel. Slotnick, R.N., Abuhamad, A.Z. Lancet (1996) [Pubmed]
 
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