Recurrent Miscarriage or Pregnancy Loss

Activated Partial Thromboplastin Time (APTT) – this test looks at a variety of factors involved in the normal blood clotting process. If any of these factors has a defect the blood will take longer than normal to clot. The consequence of such a defect can result in hemorrhaging. In terms of pregnancy this type of deficiency has been associated with failed implantations and recurrent pregnancy loss.

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Anti-Beta2 Glycoprotein 1 – the presence of this antibody is an independent risk factor for thrombosis and pregnancy complications. It is a naturally occurring anticoagulant that may interact with other components involved in the blood clotting process causing abnormalities. This protein has also been shown to bind to phospholipids (major component of cell membranes) making them more susceptible to attack by antibodies. Damage done by these antibodies to cells involved in fetal implantation may cause pregnancy complications.

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Anti-Cardiolipin Antibodies (ACA) – Cardiolipin is a phospholipid that is one of the main components of cell membranes. It is involved in essential cell functions necessary for proper embryo development. Elevated levels of antibodies to Cardiolipin may interfere with its ability to function normally and have been associated with vein or artery clotting, few blood platelets (fragments that lead to the formation of blood clots) and fetal loss.

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Anti-Phospholipid Antibodies (APA) – antibodies in the blood that attach to structures on the surface of cells called phospholipids. This blood test involves 3 different forms (IgM, IgG, and IgA) of antibodies against typically 3 different phospholipids (phosphatidyl ethanolamine, phosphatidyl inositol and phosphatidyl serine). Other less common phospholipids include: phospatidic acid and phosphatidyl glycerol. Result may be reported as negative, borderline, positive, weak, moderate or high positive. Positive APA reflects an increased blood clotting tendency that can cut off blood flow to the fetus. These antibodies can also cause the placenta to attach too weakly to the uterus.

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Antithrombin – a protein in the blood that blocks the formation of blood clots by inhibiting the procoagulation (cause blood to clot) factors XIa, IXa, Xa and IIa. It is an inherited condition in which an abnormal gene (inherited from a parent with the disease) leads to low levels or reduced function of the protein. This can cause abnormal blood clotting.

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Chromosome Analysis Karyotyping – One or both of the parents may be the carrier of an abnormal chromosome. Karyotyping is the analysis of the number and shapes of chromosomes in individual cells. Abnormal karyotypes are a significant cause of recurrent miscarriage, or infertility. Chromosomal abnormalities include: extra or missing chromosomes, alterations to the normal structure of specific chromosomes or cases where sections of one chromosome will be relocated to another chromosome where it does not belong (translocation). A chromosome analysis can identify these abnormalities and determine the anatomical, physical and physiological problems associated with it.

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Factor V Leiden – is a protein involved in the normal blood clotting process. Once the blood has sufficiently clotted, the Factor V Leiden protein becomes inactivated. Some people inherit a defective Factor V Leiden gene (a point mutation). This genetic defect makes the Factor V Leiden protein much more difficult to inactivate, resulting in excessive clotting. The Factor V Leiden defect has been associated with: recurrent pregnancy loss, late abortions, fetal death/growth retardation (IUGR) and pregnancy complications such as pre-eclampsia (a condition in pregnancy characterized by a sharp increase in blood pressure).

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Factor VII – a protein that is part of the cascade of clotting factors involved in the process of forming a protective blood clot. Diagnosis is typically made through activated partial thromboplastin time (aPTT) test, prothrombin time (PT) test and thrombin time (TT) test.  A prolonged clotting time indicates a deficiency of this protein. Diagnosis can be confirmed with a factor VII assay. Factor VII deficiency is usually severe. People with severe factor VII are prone to joint bleeds.  In addition to spontaneous nosebleeds, people can experience bleeds in the stomach, intestines and urinary tract.  Head bleeds and muscle bleeds have also been reported.  Also, women can have severe menorrhagia (heavy or extended menstrual flow).

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Factor VIII (Von Willebrand Factor) – a protein that is part of the cascade of clotting factors involved in the process of forming a protective blood clot. Diagnosis is typically made through activated partial thromboplastin time (aPTT) test, prothrombin time (PT) test and thrombin time (TT). A prolonged clotting time indicates a deficiency of this protein. R aised maternal plasma levels of clotting factor VIII tend to be associated with an increased risk of recurrent pregnancy loss (RPL).

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Factor X – a protein that is part of the cascade of clotting factors involved in the process of forming a protective blood clot. T ypically identified by testing for Antithrombin activity which normally inhibits this factor. If there is an antithrombin deficiency, this protein can cause abnormal clotting.

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Factor XI – a protein that is part of the cascade of clotting factors involved in the process of forming a protective blood clot. T ypically identified by testing for Antithrombin activity which normally inhibits this factor. If there is an antithrombin deficiency, this protein can cause abnormal clotting. Also detected by activated partial thromboplastin time (APTT) testing. APTT is especially sensitive for functional deficiencies in this factor resulting in blood taking longer than normal to clot.

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Factor XII – a protein that is part of the cascade of clotting factors involved in the process of forming a protective blood clot. D etected by activated partial thromboplastin time (APTT) testing. APTT is especially sensitive for functional deficiencies in this factor resulting in blood taking longer than normal to clot. 

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Factor XIII – a protein that is part of the cascade of clotting factors involved in the process of forming a protective blood clot. Genetic variations in the gene for the Factor XIII protein have been associated with an abnormally enhanced ability to form a blood clot. Women who are homozygous for Factor XIII mutations also have a high risk for recurrent spontaneous abortion.

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Homocysteine – is an amino acid that, when elevated, can adversely affect many factors involved in the clotting pathway. It can either enhance blood clotting (procoagulation) activity or reduce the ability to stop blood clotting (anticoagulation). Elevated homocysteine levels can be acquired by vitamin deficiencies (folic acid, vitamins B6 and B12). Or elevated homocysteine levels can be inherited as a genetic defect in the enzyme MTHFR, an enzyme involved in the conversion of homocyeteine. High homocysteine levels make it harder to conceive, increase the risk of early miscarriages and increase the chance of pregnancy complications.

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Lupus Anticoagulant – Lupus anticoagulant testing is used to help determine the cause of an unexplained blood clotting, or recurrent pregnancy loss. It is a specific type of (antiphospholipid) antibody in the bloodstream that can cause abnormal blood clotting. Lupus anticoagulant is detected by measuring the time it takes for a sample of your blood to clot. If this process takes longer than normal, then it is likely lupus anticoagulant is in the blood.

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MTHFR – is a recessive gene that leads to an accumulation of high levels of homocysteine that subsequently promotes thrombophilia. Typically, all copies of the MTHFR gene (homozygous) need to have the mutation in order to have a significant impact. Mutations of the MTHFR gene are associated with a significant risk for recurrent pregnancy loss (RPL) and birth defects. It has also been linked to third trimester and post-partum complications.

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Plasminogen Activator Inhibitor – 1 (PAI-1) – is an enzyme involved in the process of breaking down blood clots. Elevated levels of this enzyme are associated with excessive clotting. Abnormal levels of PAI-1 are associated with pregnancy complications such as: recurrent pregnancy loss (RPL), pre-eclampsia (a condition in pregnancy characterized by a sharp increase in blood pressure), fetal growth retardation and fetal death.

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Protein C – a potent anticoagulant that plays a major role in the body’s ability to stop or regulate blood clotting. Protein C deficiency can either be inherited or acquired. In pregnancy this deficiency can disrupt the blood supply to the fetus or cause thrombosis in the placenta. The end result can be implantation failure, recurrent pregnancy loss (RPL), fetal death, fetal growth retardation (IUGR), pre-eclampsia or still birth.

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Protein S – binds to Protein C to aid in the normal blood clotting process. Protein S deficiency can either be inherited or acquired, and results in abnormally prolonged clotting. In pregnancy this deficiency can disrupt the blood supply to the fetus or cause thrombosis in the placenta. The end result can be implantation failure, recurrent pregnancy loss (RPL), fetal death, fetal growth retardation (IUGR), pre-eclampsia (a condition in pregnancy characterized by a sharp increase in blood pressure) or still birth.

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Prothrombin – a protein in the blood that is required in order for it to clot. A mutation in the Prothrombin gene results in excess production of the Prothrombin protein, making the blood more likely than normal to clot. Pregnancy complications from this mutation include: recurrent pregnancy loss (RPL), placental abruption (a condition in which the placenta detaches to some extent from the wall of the uterus), fetal death and pre-eclampsia (a condition in pregnancy characterized by a sharp increase in blood pressure).