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.


RESULTS
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.


CONCLUSIONS
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.
Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk 23507, USA.
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Slotnick
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Abuhamad
D003550:Cystic Fibrosis / Q000000981:diagnostic imaging* / Q000235:genetics; D004314:Down Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007420:Intestine, Large / Q000000981:diagnostic imaging*; D008297:Male; D011247:Pregnancy; D012306:Risk; D016216:Ultrasonography, Prenatal