Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1998 Aug;35(8):657–660. doi: 10.1136/jmg.35.8.657

Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

F Muller 1, M Dommergues 1, B Simon-Bouy 1, C Ferec 1, J F Oury 1, M C Aubry 1, R Bessis 1, E Vuillard 1, E Denamur 1, T Bienvenu 1, J L Serre 1
PMCID: PMC1051391  PMID: 9719372

Abstract

BACKGROUND: The potential of hyperechogenic fetal bowel to act as a hallmark for prenatal cystic fibrosis screening in the general population is controversial. METHODS: Our goal was to evaluate the incidence of cystic fibrosis in 209 fetuses with hyperechogenic bowel diagnosed at routine ultrasonography and with no family history of cystic fibrosis. The diagnosis of cystic fibrosis was based on prenatal screening for the eight mutations most frequently observed in France (deltaF508, deltaI507, 1717-1G-->A, G542X, G551D, R553X, W1282X, N1303K) and at postnatal follow up. RESULTS: The overall incidence of cystic fibrosis was 7/209 (3.3%) which is 84 times the estimated risk of CF in the general population (112500). Of these seven cases, six were diagnosed prenatally based on DNA analysis (deltaF508/deltaF508, n=5; deltaF508/G542X, n=1). One case in which only one mutation had been recognised was diagnosed clinically after birth (deltaF508/unidentified mutation). Of the seven cases, none was diagnosed at 16-19 weeks, four at 16-24 weeks, and three after this. The incidence of heterozygous fetuses (15/209, 7%) was not significantly higher than the 5% expected in the general population. The mutations involved in these heterozygous cases were deltaF508 (n=13), G542X (n=1), and G551D (n=1). CONCLUSIONS: Screening for cystic fibrosis should be offered to families in which fetal hyperechogenic bowel is diagnosed at routine ultrasonography. This underlines the need to review genetic counselling in this situation where the fetus is the index case for a genetic disease.

Full text

PDF
659

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Asch D. A., Patton J. P., Hershey J. C., Mennuti M. T. Reporting the results of cystic fibrosis carrier screening. Am J Obstet Gynecol. 1993 Jan;168(1 Pt 1):1–6. doi: 10.1016/s0002-9378(12)90875-3. [DOI] [PubMed] [Google Scholar]
  2. Bahado-Singh R., Morotti R., Copel J. A., Mahoney M. J. Hyperechoic fetal bowel: the perinatal consequences. Prenat Diagn. 1994 Oct;14(10):981–987. doi: 10.1002/pd.1970141014. [DOI] [PubMed] [Google Scholar]
  3. Blumenthal D. H., Rushovich A. M., Williams R. K., Rochester D. Prenatal sonographic findings of meconium peritonitis with pathologic correlation. J Clin Ultrasound. 1982 Sep;10(7):350–352. doi: 10.1002/jcu.1870100715. [DOI] [PubMed] [Google Scholar]
  4. Brambati B., Tului L., Fattore S. First-trimester fetal screening of cystic fibrosis in low-risk population. Lancet. 1993 Sep 4;342(8871):624–624. doi: 10.1016/0140-6736(93)91456-v. [DOI] [PubMed] [Google Scholar]
  5. Brock D. J. Heterozygote screening for cystic fibrosis. Eur J Hum Genet. 1995;3(1):2–13. doi: 10.1159/000472268. [DOI] [PubMed] [Google Scholar]
  6. Bromley B., Doubilet P., Frigoletto F. D., Jr, Krauss C., Estroff J. A., Benacerraf B. R. Is fetal hyperechoic bowel on second-trimester sonogram an indication for amniocentesis? Obstet Gynecol. 1994 May;83(5 Pt 1):647–651. [PubMed] [Google Scholar]
  7. Corteville J. E., Gray D. L., Langer J. C. Bowel abnormalities in the fetus--correlation of prenatal ultrasonographic findings with outcome. Am J Obstet Gynecol. 1996 Sep;175(3 Pt 1):724–729. doi: 10.1053/ob.1996.v175.a74412. [DOI] [PubMed] [Google Scholar]
  8. Doherty R. A., Bradley L. A., Haddow J. E. Prenatal screening for cystic fibrosis: an updated perspective. Am J Obstet Gynecol. 1997 Feb;176(2):268–270. doi: 10.1016/s0002-9378(97)70483-6. [DOI] [PubMed] [Google Scholar]
  9. Fakhry J., Reiser M., Shapiro L. R., Schechter A., Pait L. P., Glennon A. Increased echogenicity in the lower fetal abdomen: a common normal variant in the second trimester. J Ultrasound Med. 1986 Sep;5(9):489–492. doi: 10.7863/jum.1986.5.9.489. [DOI] [PubMed] [Google Scholar]
  10. Forouzan I. Fetal abdominal echogenic mass: an early sign of intrauterine cytomegalovirus infection. Obstet Gynecol. 1992 Sep;80(3 Pt 2):535–537. [PubMed] [Google Scholar]
  11. Férec C., Audrezet M. P., Mercier B., Guillermit H., Moullier P., Quere I., Verlingue C. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet. 1992 Jun;1(3):188–191. doi: 10.1038/ng0692-188. [DOI] [PubMed] [Google Scholar]
  12. Hill L. M., Fries J., Hecker J., Grzybek P. Second-trimester echogenic small bowel: an increased risk for adverse perinatal outcome. Prenat Diagn. 1994 Sep;14(9):845–850. doi: 10.1002/pd.1970140913. [DOI] [PubMed] [Google Scholar]
  13. Lieu T. A., Watson S. E., Washington A. E. The cost-effectiveness of prenatal carrier screening for cystic fibrosis. Obstet Gynecol. 1994 Dec;84(6):903–912. [PubMed] [Google Scholar]
  14. Lince D. M., Pretorius D. H., Manco-Johnson M. L., Manchester D., Clewell W. H. The clinical significance of increased echogenicity in the fetal abdomen. AJR Am J Roentgenol. 1985 Oct;145(4):683–686. doi: 10.2214/ajr.145.4.683. [DOI] [PubMed] [Google Scholar]
  15. Livingstone J., Axton R. A., Gilfillan A., Mennie M., Compton M., Liston W. A., Calder A. A., Gordon A. J., Brock D. J. Antenatal screening for cystic fibrosis: a trial of the couple model. BMJ. 1994 Jun 4;308(6942):1459–1462. doi: 10.1136/bmj.308.6942.1459. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. MacGregor S. N., Tamura R., Sabbagha R., Brenhofer J. K., Kambich M. P., Pergament E. Isolated hyperechoic fetal bowel: significance and implications for management. Am J Obstet Gynecol. 1995 Oct;173(4):1254–1258. doi: 10.1016/0002-9378(95)91365-3. [DOI] [PubMed] [Google Scholar]
  17. Manco L. G., Nunan F. A., Jr, Sohnen H., Jacobs E. J. Fetal small bowel simulating an abdominal mass at sonography. J Clin Ultrasound. 1986 Jun;14(5):404–407. doi: 10.1002/jcu.1870140516. [DOI] [PubMed] [Google Scholar]
  18. Muller F., Dommergues M., Aubry M. C., Simon-Bouy B., Gautier E., Oury J. F., Narcy F. Hyperechogenic fetal bowel: an ultrasonographic marker for adverse fetal and neonatal outcome. Am J Obstet Gynecol. 1995 Aug;173(2):508–513. doi: 10.1016/0002-9378(95)90274-0. [DOI] [PubMed] [Google Scholar]
  19. Muller F., Frot J. C., Aubry M. C., Boue J., Boue A. Meconium ileus in cystic fibrosis fetuses. Lancet. 1984 Jul 28;2(8396):223–223. doi: 10.1016/s0140-6736(84)90505-1. [DOI] [PubMed] [Google Scholar]
  20. Nyberg D. A., Resta R. G., Luthy D. A., Hickok D. E., Mahony B. S., Hirsch J. H. Prenatal sonographic findings of Down syndrome: review of 94 cases. Obstet Gynecol. 1990 Sep;76(3 Pt 1):370–377. [PubMed] [Google Scholar]
  21. Schwimer S. R., Vanley G. T., Reinke R. T. Prenatal diagnosis of cystic meconium peritonitis. J Clin Ultrasound. 1984 Jan;12(1):37–39. doi: 10.1002/jcu.1870120109. [DOI] [PubMed] [Google Scholar]
  22. Sherer D. M., Eggers P. C., Abramowicz J. S. Fetal biceps and deltoid muscle flexing in utero at 21 weeks gestation. J Ultrasound Med. 1991 Apr;10(4):210–210. doi: 10.7863/jum.1991.10.4.210. [DOI] [PubMed] [Google Scholar]
  23. Simon-Bouy B., Mornet E., Serre J. L., Taillandier A., Boué J., Boué A. The cystic fibrosis delta F508 mutation in the French population. Hum Genet. 1990 Sep;85(4):431–432. doi: 10.1007/BF02428300. [DOI] [PubMed] [Google Scholar]
  24. Slotnick R. N., Abuhamad A. Z. Prognostic implications of fetal echogenic bowel. Lancet. 1996 Jan 13;347(8994):85–87. doi: 10.1016/s0140-6736(96)90210-x. [DOI] [PubMed] [Google Scholar]
  25. Stringer M. D., Thornton J. G., Mason G. C. Hyperechogenic fetal bowel. Arch Dis Child Fetal Neonatal Ed. 1996 Jan;74(1):F1–F2. doi: 10.1136/fn.74.1.f1. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES