Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.


Can CF be diagnosed during pregnancy?
Thank you for the question which I will now to answer.
It is possible to screen for CF during pregnancy using ultrasound scanning, chorionic villous sampling and amniocentesis. Although the latter investigations are considered to be the particularly effective in terms of confidently establishing a diagnosis of CF, these particular tests are invasive and may not be widely available. A hyperechogenic (bright appearance) of the foetal bowel evident on ultrasound during the second trimester of pregnancy can be detected in approximately 2% of foetuses. Although it can be considered a normal variant, this finding is often associated with disease, such as CF. The risk of CF is higher when this hyperechogenicity is associated with additional findings such as bowel dilatation or with absence of the gall bladder.[1] The use of ultrasound examination as a basis for screening for CF has been extensively studied, and overall it is considered to be effective, particularly in populations where the disease is frequent. It is important to be aware that although there is an increased risk of CF with a foetal echogenic bowel,[2] the examination is relatively subjective and this can lead to variability between operators. Therefore, ultrasound remains a useful option for CF screening in pregnancy, although like many other screening tests, it has a recognised false positive and false negative rate if used in isolation.

The website below provides further information on antenatal screening for CF:

Reference List

1. Estroff, J.A., R.B. Parad, and B.R. Benacerraf, Prevalence of cystic fibrosis in fetuses with dilated bowel. Radiology, 1992. 183(3): p. 677-80.
2. Scotet, V., et al., Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies. J Med Genet, 2002. 39(6): p. 443-8.

Best Wishes
D Cromer
S Elborn
The answer is edited by: David Comer
May 3, 2011
Please also refer to a similar question & answer (also with the subject "Pregnancy") in the Central Archive of ECORN-CF. Here is the link:[showitem]=1255&tx_expertadvice_pi1[search]=

Annette Pfalz for ECORN-CF