Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can be fetal bowel hyperechogenicity, intestinal loop dilatation and non-visualization of fetal gallbladder. In these cases, search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the recommended diagnostic practices, with a search for frequent mutations according to ethnicity, and, in case of the triad of signs, with an exhaustive study of the gene. However, the molecular diagnosis remains a challenge in populations without well-known frequent pathogenic variants. We present a multiethnic cohort of 108 pregnancies with fetal bowel abnormalities in which the parents benefited from an exhaustive study of the CFTR gene. We describe the new homozygous p.Cys1410* mutation in a fetus of African origin. We did not observe the most frequent p.Phe508del mutation in our cohort but evidenced variants undetected by our frequent mutations kit. Thanks to the progress of sequencing techniques and despite the difficulties of interpretation occasionally encountered, we discuss the need to carry out a comprehensive CFTR study in all patients in case of fetal bowel abnormalities.

DNA comparison between operative and biopsy specimens to investigate stage pT0 after radical prostatectomy.

PURPOSE: The aim was to eliminate, by DNA comparison, any identity mismatch between operative and biopsy specimens and to analyse the determinants of all pT0 prostate cancers occurred in a single institution. METHODS: All prostate pT0 cases in a single institution over 20 years were investigated. None of the patients had been diagnosed after a transurethral resection of the prostate nor had they received neoadjuvant hormonal treatment. The biopsies performed in other centres had been referred for a centralized pathologic re-analysis. DNA analysis was performed in samples from operative and biopsy specimens, and pairs of tissues were blindly constituted. Correct matching was verified in each pair and compared to the original database in order to comment on the occurrence of identity mismatches in the series. RESULTS: Nineteen patients (0.77 %) had been diagnosed as having pT0 prostate cancer among the 2,462 RP procedures performed over 19 years. The biopsy re-analysis invalidated the initial diagnosis of prostate cancer in one biopsy set performed elsewhere. Among 12 entirely processed cases, the biochemistry procedure evaluated as "very unlikely" the occurrence of an error in tissue identification in the biopsy setting, during the surgical procedure or the pathological analysis. No identification error of tissue samples was established in this first verified pT0 series. CONCLUSIONS: Although it must be suspected, specimen identification error was not a cause for pT0 prostate cancer. Only after a full pathological and DNA verification, the pT0 stage remains a sole entity, unexplained in most cases.

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

BACKGROUND: The epidemiology of cystic fibrosis (CF) is poorly known in North African populations, in particular in Morocco and the CF carrier frequency in the general Moroccan population has never been evaluated. METHODS: To estimate the prevalence of CF mutations in Morocco, blood samples from 150 healthy Moroccans were tested for frequent CFTR mutations and the intron 8 polyT variant. RESULTS: Two subjects were heterozygous for F508del and eight others for the (T)5 variant. CONCLUSION: These findings indicate that the Moroccan population is at risk for CF and CFTR-related disorders. CF prevalence could be in the range of that found in European populations. Wider studies are necessary to identify the clinical pattern and accurately determine the prevalence and molecular basis of CF in Morocco.