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Prenatal diagnosis of PIBIDS
Author(s) -
Savary J. B.,
Vasseur F.,
Vinatier D.,
Manouvrier S.,
Thomas P.,
Deminatti M. M.
Publication year - 1991
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970111107
Subject(s) - abortion , fetus , prenatal diagnosis , pregnancy , medicine , obstetrics , therapeutic abortion , andrology , gynecology , biology , genetics
Abstract 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.