Thrombophilia

Recurrent Miscarriage and Infertility

Introduction

Throughout an entire normal pregnancy, the mother’s ability to produce blood clots in the uterus and the placenta is suppressed. Non-clotting blood freely flows to and nourishes the baby. Some mothers may have certain conditions, both acquired and inherited, where clotting of the blood nourishing the baby is not suppressed. This increased tendency for the blood to clot is called thrombophilia. The resulting clots may cause the following complications to occur:

  • Implantation failure
  • Miscarriages
  • Pre-eclampsia
  • Intrauterine growth retardation
  • Oligohydramnios (low levels of amniotic fluid)
  • Abruptio placenta
  • Premature labor (often caused by incompetent cervix syndrome)
  • Unexplained intrauterine fetal death
  • Thrombophlebitis (blood clots in the veins or the arteries during pregnancy)

Any woman experiencing any of these complications needs to be evaluated for thrombophilia.

At the time of attachment of the embryo with the endometrium, the endometrium has reached a certain thickness, and blood vessels have grown into zone three, the topmost layer of the endometrium. The hormones of ovulation have opened these blood vessels wider than others, and the blood flow never stops. Within 24 hours of attachment, the embryo (placental cells) have found these blood vessels, bored into them, opened them up, and the nourishment process for the baby begins. In this document, we discuss how inherited or acquired thrombophilia can cause the blood to begin to clot off and starve the embryo. This may occur either early or late in pregnancy. This is why you see the long list above of nine complications that can occur when this happens.

Once diagnosed as acquired or inherited, thrombophilia can be treated, and healthy, normally grown babies can be born. The treatment for each is different.

Diagnosis of Inherited Thrombophilia

For the diagnosis of Inherited Thrombophilia, the following tests can be conducted:

  • Lieden Factor V mutation R560Q (DNA test by PCR)
  • Hyperhomocysteinemia MTHFR C677T and A1298C mutations (DNA test by PCR)
  • Prothrombin Gene Mutation 20210 (GA) DNA test by PCR
  • Protein C levels
  • Protein S levels
  • Antithrombin III activity
  • PAI-1 gene mutation
  • Factor XIII mutation
  • Beta-2 Glycoprotein

These tests can be done by most local laboratories.

Diagnosis of Acquired Thrombophilia (Antiphospholipid Antibodies)

For the diagnosis of Acquired Thrombophilia (Antiphospholipid Antibodies), the following laboratory assays can be conducted:

  • Antibodies to six phospholipids of the IgM, IgG, and IgA classes
  • Lupus anticoagulant antibody
  • Russell Viper Venom Time
  • Partial Prothrombin Time (PTT)

These laboratory assays are available to doctors dealing with most reference laboratories. If assistance is needed, please e-mail our office.

Conclusions

Thrombophilia, inherited or acquired, is very common. Any woman experiencing any of the above complications of pregnancy deserves to be tested. Any relative of any woman experiencing the above complications should demand testing before a pregnancy is planned or initiated.

Much of the information in this simple document is very new. Many doctors who deal with pregnant women may not know about this problem. We are living in an age where up-to-date information is readily available to the consumer. Most individuals are sufficiently bright and capable to begin to collect information about the problems they have experienced and understand this information.

The reproductive system is incredibly overbuilt for success and when it fails, something is surely wrong. We do not have all the answers but we have answers to many of them. Preventive medicine, often required during the cycle of conception, can ensure the safe arrival of your child in your home after you have experienced an incredibly long and disappointing journey of trying.

Thrombophilia is much more common in women than in men. Perhaps there is a survival advantage for women to have thrombophilia. Perhaps they are less prone to die of postpartum hemorrhage, the chief cause of death in pregnant women.

The information contained in this article is not intended to be a medical diagnosis, treatment, or medical advice in any way, as it is general information and cannot be relied on without consultation with your physician. It is not intended nor is it implied to be a substitute for professional medical advice. As medical information can change rapidly, we strongly encourage you to discuss all health matters and concerns with your physician before embarking on new diagnostic or treatment strategies.

References

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