A WOMAN WITH 5 CONSECUTIVE FETAL DEATHS - CASE-REPORT AND RETROSPECTIVE ANALYSIS OF HYPERHOMOCYSTEINEMIA PREVALENCE IN 100 CONSECUTIVE WOMEN WITH RECURRENT MISCARRIAGES

Objective: To evaluate the medical relevance of hyperhomocysteinemia i n women with primary recurrent miscarriages. Design: Case report and r etrospective cross-sectional study. Setting: Hematology outpatient dep artment of a university hospital. Patient(s): Case report concerning a woman with five consecutive fetal losses. One hundred consecutive wom en with primary recurrent unexplained miscarriages (study group) and m atched healthy controls (control group) with no antecedent fetal loss. Intervention(s): Venous blood sample collection in resting individual s. Main Outcome Measure(s): Plasma total homocysteine concentrations, plasma folate concentrations, and DNA analysis for the C677T mutation of the 5,10 methylene tetrahydrofolate reductase gene. Normal threshol d homocysteine concentration was obtained from values found in the con trol group (95th percentile). Result(s): The case patient was hyperhom ocysteinemic, was homozygous for the C677T mutation in the methylene t etrahydrofolate reductase gene, and had plasma folate deficiency. Foli c acid and pyridoxine administration normalized the homocysteine conce ntration and favored a successful pregnancy. In the retrospective stud y, 12 of 100 patients were hyperhomocysteinemic. Twenty percent had th e C677T methylene tetrahydrofolate reductase genotype and 15% had low plasma folate concentrations. The highest values of homocysteine conce ntration were found in patients with both the C677T genotype and folat e deficiency, Conclusion(s): Hyperhomocysteinemia should be identified in women with recurrent miscarriages because therapeutic normalizatio n might permit a normal birth. ((C) 1998 by American Society for Repro ductive Medicine.).