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The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum

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Messaoud, O. | Ben Rekaya, M. | Jerbi, M. | Ouertani, I. | Kefi, R. | Laroussi, N. | Bouyacoub, Y. | Benfadhel, S. | Yacoub-Youssef, H. | Boubaker, S. | Zghal, M. | Mrad, R. | Amouri, A. | Abdelhak, S.

Edité par CCSD ; S. Karger -

International audience. Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis.Methods:Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia. (C) 2013 S. Karger AG, Basel

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