Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy

Prenatal diagnosis was performed in a family where the father has osteogene sis imperfecta (OI) type I, with a novel mutation in the COL1A1 gene: a C t o T change at position c3076 (c.3076C-->T) leading to a change of arginine at codon 848 to a stop codon (R848X). Prenatal diagnosis by chorionic villo us sampling (CVS) was performed during the fourth pregnancy, and revealed t hat the fetus is a carrier of the same COL1A1 mutation. The possibility of phenotypic variability was discussed with the parents. They elected to carr y the pregnancy to term, and a male child with mild OI was born. This is th e first reported case where OI was diagnosed prenatally, and the parents op ted to carry the pregnancy to term. It illustrates the potential use of DNA -based analysis for early prenatal diagnosis of OI, and the complexities of genetic counselling. Copyright (C) 2000 John Wiley & Sons, Ltd.