Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not withintrauterine growth restriction

Objective: This study was undertaken to investigate the involvement of MTHF R gene mutations C677T and A1298C implicated in vascular disease, in patien ts with abruptio placentae and intrauterine growth restriction (IUGR). Stud y Design: DNA was extracted from blood samples of 54 patients with placenta l vasculopathy (18 patients with abruptio placentae and 36 with IUGR) and 1 14 control patients and amplified by the polymerase chain reaction (PCR). T he resulting fragments were subjected to restriction enzyme analysis and re solved by gel electrophoresis. Results: A significant association could be demonstrated between mutation A 1298C and both-abruptio placentae and IUGR. Combined heterozygosity for mutations C677T and A1298C was detected in 22. 2% of abruptio placentae cases. Conclusions: Combined heterozygosity for MT HFR mutations C677T and A1298C may represent a genetic marker for abruptio placentae. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.