Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience.
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.
Kleijer
Wim J
WJ
Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands. w.kleijer@erasmusmc.nl
van der Sterre
Marianne L T
ML
Garritsen
Victor H
VH
Raams
Anja
A
Jaspers
Nicolaas G J
NG
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*
D012313:RNA; D004247:DNA