Cystic fibrosis screening implementation at the University of Michigan

KATHLEEN HANLON-LUNDBERG, SAMUEL BAUER, RAJANI AATRE-KESHAVAMURTHY, University of Michigan, Obstetrics & Gynecology, Ann Arbor, Michigan, University of Michigan, Obstetrics and Gynecology, Ann Arbor, Michigan OBJECTIVE: Obstetric patients and providers were educated regarding cystic fibrosis carrier screening (CFCS) based on ACOG/ACMG guidelines. We evaluated uptake of CFCS, impact on obstetric management including incidence of amniocentesis and pregnancy termination, and estimated cost of program implementation. STUDY DESIGN: This prospective cohort study includes pregnant patients and those planning pregnancy who elected CFCS between 3/1/2002 2/28/2004. Laboratory records identified cases. Electronic medical records provided correlative demographic and pregnancy outcome data. Ethnicity is selfreported. RESULTS: 1370 patients or couples presented for CFCS (5% preconception, 95% prenatal). 1334 couples without family history of CF were further evaluated. 1215 patients, 47 partners, and 72 couples underwent CFCS. 64/ 1287 patients were CFCS positive: 4 of their partners were positive, 46 were negative, 14 were not tested. 0/47 partners were positive. No amniocenteses were performed due to CFCS. 1135 (85.1%) patients undergoing CFCS were Caucasian, representing 67.7% (5027/7425) of our delivering population. Approximately 22.6% (1135/ 5027) of Caucasian couples chose CFCS. CF carrier rate was 1:19 Caucasians. 10.9% of those screened for CF were from ethnic groups not at high risk. A total of 1376 persons with negative family history had periconceptional CFCS. At $444 per test, laboratory costs equal $610,944. We estimate $3500 direct cost of education and supplies. Cost for the first two years of CFCS: $614,444. Insurance has been paying for most CFCS. CONCLUSION: Cost and benefit of carrier screening for genetic disease is impacted by incidence of carrier status in those choosing to be screened and management decisions of those who screen positive. In our first two years of liberalized CFCS, a minority of ‘‘at risk’’ patients were screened who would not have been offered testing prior to this program. None who screened positive had prenatal diagnosis or pregnancy termination for this indication. 143 INHERITED THROMBOPHILIAS AND SEVERE PREGNANCY COMPLICATIONS: A STRUCTURED REVIEW TIFFANEE LENZI, KRISTIE KEETON, MARK CHAMES, SCOTT RANSOM, ELLEN MOZURKEWICH, University of Michigan, Obstetrics & Gynecology, Ann Arbor, Michigan, University of Michigan, Obstetrics, Gynecology, Health Management and Policy, Ann Arbor, Michigan OBJECTIVE: To evaluate the association between inherited thrombophilias and severe pregnancy complications. STUDY DESIGN: We searched Medline and PubMed from the year 1966 to July 2004 with key words ‘‘thrombophilia’’ and ‘‘pregnancy’’ and all subheadings. Case-control studies that reported pregnancy complications of severe preeclampsia (PE), abruption, intrauterine growth restriction (IUGR) and intrauterine fetal demise (IUFD) were selected. Exposures of interest were the inherited thrombophilias: Factor V Leiden mutation (FVL), the prothrombin gene mutation G20210A (PT), homozygosity for the methylenetetrahydrofolate reductase mutation (MTHFR) and protein S deficiency. Pooled odds ratio and 95% confidence intervals were generated using a fixed effects model with RevMan software. RESULTS: 99 articles were extracted, of which 52 with 12,495 participants met inclusion criteria. The FVL mutation was significantly associated with severe PE, abruption, IUGR and IUFD. The PT mutation was significantly associated with abruption, IUGR and IUFD. Deficiency of protein S was significantly associated with severe PE, IUGR and IUFD. Homozygosity for MTHFR was not significantly associated with any pregnancy complication. (Table I). CONCLUSION: The inherited thrombophilias FVL, PT mutation and protein S deficiency are associated with severe pregnancy complications.