Single inherited thrombophilias and adverse pregnancy outcomes.
BACKGROUND
Inherited thrombophilia is believed to be a multiple gene disease with more than one defect. We aimed to determine the association between single thrombophilic patterns and a variety of pregnancy diseases.


METHODS
284 pregnant women were recruited for the present study and were divided in two groups: A group (176 controls) and B group (108 cases). Patients belonging to the B group had one of the following: severe pre-eclampsia, hemolysis, hepatic enzymes increase, hypertension and low platelet count (HELLP) syndrome, gestational hypertension, fetal growth restriction, intrauterine death, abruptio placentae and disseminated intravascular coagulopathy. To detect methylenetetrahydrofolate reductase (MTHFR) A1298C, MTHFR C677T, factor V Leiden, PAI-1, mutant prothrombin G20210A, an inverse hybridization technology was used. Plasma homocysteine, antithrombin (AT) III and protein S were determined. A modified functional activated protein C resistance was detected.


RESULTS
MTHFR C677T and hyperhomocysteinemia were more prevalent than other thrombophilias. Deficiency in AT III was significantly linked with pre-eclampsia (relative risk 0.88; 95% CI 0.83-0.94). Activated protein C resistance (APCR) was significantly related to the abruptio placentae (relative risk 0.71; 95% CI 0.61-0.82).


CONCLUSIONS
Apart from the linkage between AT III deficiency and the occurrence of pre-eclampsia, and apart from the increased risk of abruptio placentae in pregnant women with altered APCR, we obtained findings in contrast with some of the published literature. In our case series, no association of pre-eclampsia with factor V Leiden or with prothrombin gene mutation was found.
Larciprete
Giovanni
G
AFaR, Fatebenefratelli Research Association, Fatebenefratelli Hospital, Tiberina Island, Rome, Italy. giovanni@giovannilarciprete.it
Gioia
Stefano
S
Angelucci
Piero A
PA
Brosio
Federica
F
Barbati
Giulia
G
Angelucci
Giulio P
GP
Frigo
Maria G
MG
Baiocco
Federico
F
Romanini
Maria Elisabetta
ME
Arduini
Domenico
D
Cirese
Elio
E
D000328:Adult; D005260:Female; D005313:Fetal Death; D005317:Fetal Growth Retardation; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics*; D011256:Pregnancy Outcome; D012189:Retrospective Studies; D019851:Thrombophilia / Q000235:genetics* / Q000473:pathology