The mapping of the human genome, along with research in gene
testing techniques, have recently revealed correlations between chromosomal
mutations and numerous problems with conception and fetal development.
Three
new gene tests in particular hold tremendous promise, and may help explain
fertility and recurrent pregnancy loss problems that continue to inexplicably
plague patients:
Miscarriage is the most common gestational disorder, affecting about 15% of all pregnancies. Cutting edge studies have suggested congenital and acquired blood clotting factors as a possible cause of recurrent pregnancy loss.
Given the convincing connection between recurrent pregnancy loss, cardiovascular health and blood clotting, it is prudent to recommend this evaluation, even in lieu of symptoms.
Thrombophilia can be a congenital disorder, or induced through surgery, obesity, pregnancy, oral contraceptive use, antiphospholipid syndrome, and extended periods of immobility.
· Early and late recurrent pregnancy loss may be caused by thrombophilia, as likely induced by uteroplacental microvascular thrombosis and hypoperfusion.
· Clotting may also cause intrauterine growth retardation, placental abruption or placental infarction.
·
Pre-eclampsia and pregnancy induced hypertension have also been related to
abnormal placental vasculature, in addition to neural tube defects and a
disturbance of hemostasis brought on by abnormal clotting factors.
Geneticists have identified ten thrombophilic mutations associated with
pregnancy related disorders. In fact, recent studies reveal that patients who
experience recurrent miscarriage often have one or more of these thrombophilic
markers. Clotting problems associated with insulin resistance may cause
abnormal uterine blood flow, suggesting a connection between polycystic
ovarian syndrome (PCOS) and thrombophilia.
Thrombophilia Gene evaluation will test by DNA probes and gel
electrophoresis for the presence of:
o Factor V
o Factor V Y1702C
o Factor V G1691A (Leiden)
o Factor V H1299R (R2)
o Factor XIII V34L
o MTHFR
o C677T
o A1298C
o Prothrombin G20210A
o β-Fibrinogen -455 G>A
o
PAI-1 4G/5G
HPA1 a/b (PLA1/PLA2)
A buccal swab sample, taken by the
patient and mailed to our laboratory for analysis with a $400 deposit is all
that’s needed. Note: Patient’s insurance company will be billed, and once
payment is received, the deposit will be reimbursed.