Genetic thrombophilias and uterine artery Doppler velocimetry and preeclampsia.

OBJECTIVE: The aim of this study was to evaluate the correlation between genetic thrombophilic mutations, uterine artery Doppler at 24 weeks of gestation and preeclampsia. METHODS: In a case control study 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 20 weeks at our Department. RESULTS: The frequency of heterozygous carriers of the factor V Leiden was 17.4% in the women with preeclampsia and abnormal artery Doppler compared with 3.12% in the patients with normal pregnancies. This difference was statistically significant (P<0.05). The frequency of mutation G20210A of prothrombin gene was 1.5 vs. 4.3% between women with normal pregnancies and with preeclampsia. This difference is not statistically significant. The frequency of homozygous patients for the C677T mutation of MTHFR gene among the patients with preeclampsia was 21.7% and in the control group was 10.3%, but this difference is not statistically significant. No thrombophilic gene variants were found in women with preeclampsia and normal uterine artery Doppler. CONCLUSION: We demonstrated the important association between factor V Leiden mutation, abnormal uterine Doppler at 24 weeks and preeclampsia in our population.

Placental corticotropin-releasing factor. An update.

Corticotropin-releasing factor (CRF) produced in placenta has paracrine effects within placenta, decidua, and myometrium and endocrine effects on mother and fetus. CRF is a potent local regulator of myometrial contractility and of prostaglandin release, Recently, urocortin, a new member of the CRF family, has been localized in human placenta and membranes. Urocortin mimics some of the local effects of CRF in intrauterine tissues, that is, increase of adrenocorticotrophic hormone (ACTH) and prostagiandin release and myometrial contractility. A local CRF-BP modulates the paracrine effects of CRF and urocortin. The various CRF receptor subtypes are well distributed in placenta and membranes. CRH also acts on placental blood vasculature and has an action on fetal adrenal gland to stimulate the production of the steroid DHEA-S. In nonpregnant women, plasma CRF levels are low; they become higher during the first and second trimesters of pregnancy. A clear increase is evident at term and when CRF-BP levels decrease. Women with preterm labor show high CRF and low CRF-BP levels, supporting an involvement of this pathway in mechanism of parturition.

[Pathological monolateral Doppler velocimetry of the uterine artery and materno-fetal outcome]. / Flussimetria monolaterale patologica dell'arteria uterina ed outcome materno-fetale.

BACKGROUND: The purpose of this study was to assess pathologic monolateral Doppler velocimetry of the uterine arteries as a screening test for preeclampsia and retarded intrauterine growth. METHODS: In this prospective longitudinal study carried out at the Obstetrics and Gynaecological Clinic of the University of Udine from January 200 to January 2001, 1008 utero-placental velocimetries at the 20th week of gestation were carried out by two operators; at the 24th, 111 velocimetric examinations were confirmed abnormal owing to the presence of a monolateral notch or of an increased resistance index in one of the two uterine arteries. The control group consisted of 729 patients with regular velocimetry comparable for age, race, BMI and parity. The materno-fetal outcomes were therefore assessed in both study groups. RESULTS: The incidence of preeclampsia and of retarded intrauterine growth retardation (IUGR) was respectively 3.6% and 7.2% in patients with monolateral abnormal Doppler velocimetry. The positive predictive value (PPV) of the screening test for preeclampsia was 3% and the negative value (NPV) 99%. CONCLUSIONS: The use of Doppler velocimetry of the uterine arteries with mono lateral alteration cannot be employed alone as a screening test for preeclampsia or retarded intrauterine growth in all pregnancies.

[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]. / Screening per la pre-eclampsia in pazienti a basso rischio alla ventiquattresima settimana: flussimetria delle arterie uterine e varianti geniche del fattore V, della protrombina e della metilentetraidrofolato reduttasi.

AIM: 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. CONCLUSION: 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.