Diagnosis of Inherited Thrombophilia

Diagnosis of Inherited Thrombophilia

The role of specific genes is different in etiology  of early and late pregnancy loss . Inherited thrombophilia is now view as multicausal model clinical manifestation can be heterogeneous result of gene –gene and gene environment interactions. Therefore the criteria for genetic screening affected women with history of fetal loss should not be very stringent. The implication of screening for thrombophilic mutations allow to find women at risk of thrombosis and vascular gestational abnormalities in which antithrombotic drugs may have potential therapeutic benefit.

The tests to be done are:

1.                       Lieden factor V mutation R560Q

2.                       Hyperhomocysteinemia MTHFR

3.                       Prothrombin gene mutation 20210 DNA test by PCR

4.                       Protein C levels

5.                       Protein S levels and

6.                       Activated protein C activity

7.                       PAI-1 gene mutation

8.                       Factor XIII mutation

Tests for diagnosis of acquired Thrombophilia

1 Antibodies to six phospholipids of the IgM ,IgG and IgA classes

2 Lupus anticoagulant antibody

3 Russell viper venom time

4 Activated partial thromboplastin time

5 Prothrombin time partial prothrombin time.

Evaluation of the placenta from complicated pregnancies

Clotting in the placenta or the blood vessels to the uterus can be diagnosed by doing immune pathology. This study should be done before embarking on another pregnancy since the most effective treatment must be initiated during the cycle of conception before the baby is conceived.

MANAGEMENT OF THROMBOPHILIC PREGNANT WOMEN

Management of thrombophilic pregnant woman demands a multidisciplinary approach. Women with a thrombophilia who have a history of blood clots are usually treated fwith ananticoagulant during pregnancy and the postpartum period. Women with certain severe inherited thrombophilias also are usually treated even if they have not experienced blot clots. During pregnancy these women are generally treated with anticoagulant heparin which do not cross the placenta and are safe for the baby. After delivery some women with a thrombophilia may be treated for about 6 weeks with oral anticoagulant warfarin in addition to or instead of heparin . Warfarin is safe to take during breastfeeding but it is not recommended during pregnancy because it crosses the placenta and can cause birth defects. Treatment may not be recommended for pregnant women with one of the less severe thrombophilias who have no personal or family history of blood clots. In some cases treatment may be recommended after a cesarean delivery.

Antenatal Care

. Early dating Scan in the first trimester

. Close surveillance with regular bold pressure checks and urinalysis to detect early onset pre- eclampsia

. Uterine artery waveforms at 20 and 24 weeks of gestation

. Growth scan every 2-3 weeks for pregnancies with evidence of early diastolic notch

. Consider vitamins C and E if previous PE or bilateral notches

. Ultrasound every 4 weeks to assess growth and amniotic fluids volume

.Uterine artery Doppler studies as indicated to allow timely intervention for fetal reasons

.Develop a management plan for intrapartum and postpartum care and documentations to be done.