Prenatal diagnosis of PIBIDS
Article first published online: 21 NOV 2005
Copyright © 1991 John Wiley & Sons, Ltd.
Volume 11, Issue 11, pages 859–866, November 1991
How to Cite
Savary, J. B., Vasseur, F., Vinatier, D., Manouvrier, S., Thomas, P. and Deminatti, M. M. (1991), Prenatal diagnosis of PIBIDS. Prenat. Diagn., 11: 859–866. doi: 10.1002/pd.1970111107
- Issue published online: 21 NOV 2005
- Article first published online: 21 NOV 2005
- Manuscript Accepted: 25 MAY 1991
- Manuscript Revised: 22 APR 1991
- Manuscript Received: 10 JAN 1991
- Prenatal diagnosis;
- Excision repair
In a well-documented PIBIDS family, two investigations of DNA excision repair showed a severe defect in lymphocytes from the index case (residual repair activities were 10.6–12.1 per cent). The values for the mother, father, and sister were within the normal range when compared with a healthy control. In the pregnant mother, a prenatal diagnosis of PIBIDS was made by measuring UV-induced unscheduled DNA synthesis in cultivated amniotic fluid cells. Results ranged between 12.5 and 26.1 per cent depending on the UV doses applied and were consistent with an affected fetus. The parents opted for a termination of pregnancy. Following a therapeutic abortion, fetal skin fibroblasts were tested and showed a severe DNA excision-repair defect of 9.2–13.5 per cent of residual activity.