PRENATAL DIAGNOSIS IN THE COLLAGEN DIAGNOSTIC LAB
Prenatal diagnosis of OI is possible using biochemical studies for OI type II, III and IV if studies of collagen synthesized by cultured skin fibroblasts from an affected individual in the family identified an abnormal molecule. Biochemical prenatal diagnosis is only possible by studying cultured CVS cells.
Prenatal diagnosis of OI is possible using molecular studies for all forms of OI only if a previous affected family member has had their mutation identified. DNA-based prenatal diagnosis is possible by studying DNA extracted from CVS cells or amniocytes.
Samples should not be submitted for prenatal diagnosis unless a previous affected family member has been tested and their mutation or biochemical abnormality has been identified. It is helpful for the clinician to phone ahead and discuss the patient with Dr. Peter Byers or genetic counselors, Melanie Pepin or Dru Leistritz, to determine appropriate testing (206-543-5464).