Objective: Evaluation of results in a consecutive series of 29 prenatal diagnoses for the Cockayne syndrome. Methods: Recovery of DNA-synthesis in UV-irradiated cultured fetal cells was measured by scintillation counting of incorporated 3H-thymidine. Semiquantitative autoradiographic assessment of the recovery of RNA-synthesis (RecRS) was used as an adjunctive method. Results: In 26 of the 29 pregnancies at risk, a definite diagnosis was directly made, based on normal (n = 23) or clearly reduced (n = 3) recovery of DNA-synthesis in UV-irradiated cultured chorionic villus (CV) cells (n = 23) or amniocytes (n = 3). Adjunctive studies were performed in several pregnancies to corroborate the initial results. On three occasions initial results were unreliable, which required investigation of the recovery of RNA-synthesis (n = 2) or even additional amniocentesis (n = 1) to achieve a firm diagnosis. Thus, four affected fetuses were diagnosed in 29 pregnancies at risk (13.8%). Conclusion: Reliable prenatal diagnosis of the Cockayne syndrome can be made by the demonstration of a strongly reduced recovery of DNA-synthesis in UV-irradiated cultured chorionic villus cells or amniocytes. Assessment of the recovery of RNA-synthesis was needed as an adjunctive method in rare cases of poor cell growth and DNA-synthesis. Copyright

Cockayne syndrome, DNA repair defect, Prenatal diagnosis, Recovery of DNA and RNA-synthesis, TC-NER
dx.doi.org/10.1002/pd.1541, hdl.handle.net/1765/66412
Prenatal Diagnosis
Department of Clinical Genetics

Kleijer, W.J, van der Sterre, M.L.T, Garritsen, V.H, Raams, A, & Jaspers, N.G.J. (2006). Prenatal diagnosis of the Cockayne syndrome: Survey of 15 years experience. Prenatal Diagnosis, 26(10), 980–984. doi:10.1002/pd.1541