title: Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience.
abstract: 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 (3)H-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%).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands. w.kleijer@erasmusmc.nl
authors.forename: Wim J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: Marianne L T
authors.initials: ML
authors.lastname: van der Sterre
authors.forename: Victor H
authors.initials: VH
authors.lastname: Garritsen
authors.forename: Anja
authors.initials: A
authors.lastname: Raams
authors.forename: Nicolaas G J
authors.initials: NG
authors.lastname: Jaspers
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured / Q000528:radiation effects; D002824:Chorionic Villi; D003057:Cockayne Syndrome / Q000175:diagnosis*; D004247:DNA / Q000096:biosynthesis / Q000528:radiation effects*; D005260:Female; D005333:Fetus / Q000166:cytology; D005347:Fibroblasts / Q000528:radiation effects*; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods*; D012313:RNA / Q000096:biosynthesis / Q000528:radiation effects*
chemical_list: D012313:RNA; D004247:DNA