Abstract
Grade III fetal bowel hyperechogenicity and/or loop dilatation observed at the second trimester of pregnancy can be due to several disease conditions, including cystic fibrosis (CF). Screening for frequent CF mutations is performed as a first step and, in certain situations, such as when a frequent CF mutation is found in the fetus, the increased risk of CF justifies an in-depth study of the second allele. To determine the contribution of large CFTR gene rearrangements in such cases, detected using a semiquantitative fluorescent multiplex PCR (QFM-PCR) assay, we collated data on 669 referrals related to suspicion of CF in fetuses from 1998 to 2009. Deletions were found in 5/70 cases in which QFM-PCR was applied, dele19, dele22_23, dele2_6b, dele14b_15 and dele6a_6b, of which the last three remain undescribed. In 3/5 cases, hyperechogenicity was associated with dilatation and/or gallbladder anomalies. Of the total cases of CF recognized in the subgroup of first-hand referrals, deletions represent 16.7% of CF alleles. Our study thus strengthens the need to consider large CFTR gene rearrangements in the diagnosis strategy of fetal bowel anomalies, in particular in the presence of multiple anomalies.
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Acknowledgements
We thank Drs C Philippe, D Feldmann, JP Bonnefont, J Kaplan, A Martin and ML Dalphin for referring the DNA samples. B Boissier, R Medina, C Gameiro and F Rossi are thanked for valuable technical assistance. D Kerridge is acknowledged for re-reading the paper.
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de Becdelièvre, A., Costa, C., LeFloch, A. et al. Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies. Eur J Hum Genet 18, 1166–1169 (2010). https://doi.org/10.1038/ejhg.2010.80
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DOI: https://doi.org/10.1038/ejhg.2010.80
