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Ethnicity may be a guide in thrombophilia testing. (Screening for Genetic Mutations).

LOS ANGELES -- Genetic test results in 326 pregnancies suggest a role for selective screening by race for gene mutations linked with thrombophilias, Dr. Laxmi V. Baxi said in a poster presentation at the annual meeting of the Society for Gynecologic Investigation.

Investigators screened for three mutations--factor V Leiden, factor II, and methylenetetrahydrofolate reductase (MTHFR)--in 103 women with complicated pregnancies and 223 controls with uncomplicated pregnancies. The complications included severe preedampisia, placental abruption, unexplained midtrimester spontaneous abortion, recurrent abortions, and intrauterine growth restriction.

"One shouldn't go ahead and keep on doing all mutations [tests] in every patient, because there are some ethnic differences," said Dr. Baxi, professor of clinical ob.gyn. at Columbia University, New York.

Factor II mutations were found only in white women of Jewish or non-Jewish ethnicity and not in Hispanic, African American, or Asian American women. Asian American patients included Indian women.

All three mutations were significantly more common in patients with complicated pregnancies as a whole, compared with controls (28% vs. 11%). Each of the three mutations was more common in the complicated pregnancy group: factor V Leiden (6% vs. 2%), factor II (7% vs. 1%), and homozygous MTHFR mutation (15% vs. 8%).

"Even if they have an MTHFR gene mutation, if they take folic acid before the pregnancy starts, the complications could be avoided," Dr. Baxi said.

Ashkenazi Jewish patients with complicated pregnancies were significantly more likely to have a mutation than their racial counterparts in the control group (46% vs. 23%). Ashkenazi Jewish women in the complicated pregnancy group also had a higher rate of factor II mutations, compared with Ashkenazi Jewish controls (18% vs. 4%).
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Author:Boschert, Sherry
Publication:OB GYN News
Date:Jun 1, 2002
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