title: [Screening for pre-eclampsia in a low-risk population at 24 weeks: uterine artery Doppler flow velocimetry and genetic variants of factor V, prothrombin and methylenetetrahydrofolate reductase].
abstract: OBJECTIVE
  Pre-eclampsia is one of the major causes of maternal and fetal morbidity and mortality. The aim of this study was to evaluate the clinical usefulness of screening of genetic thrombophilic mutations and uterine artery Doppler flow velocimetry at 24 weeks of gestation in the prediction of pre-eclampsia in low risk pregnant women.
  
  
  METHODS
  We performed the genetic analysis for Leiden mutation of factor V gene (FV), G20210A mutation of the prothrombin gene (PT) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene in 103 women that had already attended routine ultrasonography scanner at 24 weeks at our Department.
  
  
  RESULTS
  The frequency of heterozygous carriers of the Leiden FV was 17.4% in women with pre-eclampsia and abnormal artery Doppler flow velocimetry compared with 3.12% in patients with normal pregnancies. This difference was statistically significant (P<0.05). The frequency of mutation G20210A of PT gene was 1.5% vs 4.3% between women with normal pregnancies and with pre-eclampsia. This difference is not statistically significant. The frequency of homozygous patients for the C677T mutation of MTHFR gene among patients with pre-eclampsia was 21.7% and in the control group was 10.3%, but this difference is not statistically significant. No thrombophilic genes variants were found in women with pre-eclampsia and normal uterine artery Doppler flow velocimetry.
  
  
  CONCLUSIONS
  We demonstrated the important association between FV Leiden mutation, abnormal uterine artery Doppler flow velocimetry at 24 weeks and pre-eclampsia in our low-risk population.
authors.affiliation: Dipartimento di Scienze Chirurgiche, Università degli Studi di Udine, Udine, Italy. lorenzadriul@hotmail.com
authors.forename: L
authors.initials: L
authors.lastname: Driul
authors.forename: G
authors.initials: G
authors.lastname: Damante
authors.forename: A
authors.initials: A
authors.lastname: D'Elia
authors.forename: F
authors.initials: F
authors.lastname: Springolo
authors.forename: A
authors.initials: A
authors.lastname: Ianni
authors.forename: C
authors.initials: C
authors.lastname: Di Leonardo
authors.forename: M
authors.initials: M
authors.lastname: Angelini
authors.forename: D
authors.initials: D
authors.lastname: Marchesoni
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008403:Mass Screening / Q000379:methods; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000097:blood / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011225:Pre-Eclampsia / Q000097:blood / Q000000981:diagnostic imaging* / Q000235:genetics*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011516:Prothrombin / Q000235:genetics*; D011673:Pulsatile Flow; D012189:Retrospective Studies; D012307:Risk Factors; D018608:Ultrasonography, Doppler / Q000379:methods; D014599:Uterus / Q000098:blood supply* / Q000000981:diagnostic imaging
chemical_list: D015415:Biomarkers; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)