Thursday, May 7, 2009

Thrombophilia: Looking for clues in this and other cases

The frustrating problem with the two case studies I have is that there is so little evidence to either support or refute the thrombophilia hypothesis in these particular cases.

In the first case the woman lost 3 pregnancies in a row at 19, 16, and 15 weeks due to umbilical cord hypercoiling, stricture, and torsion. There is absolutely no information regarding thrombophilia testing or any other lab tests that were almost certainly performed after these losses. There's also no information on whether she tried any treatment such as heparin in any of the pregnancies. The report shows there was a 1.3 cm clot in the first placenta, but no clots found in the other two.

In the second case the woman lost 3 out of 4 pregnancies between 28 and 30 weeks all due to umbilical cord stricture. One of the 4 pregnancies resulted in a live birth at 25 weeks, presumably by C-section and presumably because of similar problems but it doesn't say. Also, like the first case there is no information on any lab test that were done or on whether any treatment such as heparin was tried in the later pregnancies. There is no mention of clotting in the placentas.

Thanks to Dr. Collins at the Pregnancy Institute in Louisiana, I was able to find out about a case where the woman lost 4 out of 9 pregnancies due to umbilical cord torsion at 19-20 weeks. Four of her pregnancies resulted in live births and the other was an early miscarriage. This amazing woman was kind enough to talk to me on the phone for an hour and a half telling me about her experiences. After having 2 normal pregnancies, she lost 2 babies at 19-20 weeks due to cord torsion. Then on the next pregnancy she tried using heparin (without strong evidence of clotting or thrombophilia on the first two losses). This pregnancy was also a loss. So after 3 late losses in a row, she tried again using heparin and got a live baby. The next pregnancy was another late loss despite using heparin, but the last pregnancy (also using heparin) resulted in another live birth.

This gives me hope that having a live baby is still possible even after repeated cord-related losses. However, it doesn't give much hope that heparin is the answer, since she experienced a loss rate of 50% (2 out of 4 pregnancies) without heparin, and a 50% loss rate (2 out of 4 pregnancies) with heparin.

In my own case, of course, I have more complete information on lab results, family and personal medical history, etc. as follows:
  • No solid evidence of thrombophilia from any of the many lab test that were done. More specific results on a couple of tests listed below.
All labs on mom normal, except moderate positive result on anticardiolipin antibody IgG, which we're told is not significant; after six weeks this was retested and the level was "inconclusive"

Additional testing on me showed I am heterozygous for MTHFT mutation C677T, which we're told is "not clinically significant
  • No family history of thrombophilia or clot related problems (heart attack, stroke, deep vein thrombosis, pulmonary embolism)
  • No personal history of clots, despite 2 full term pregnancies and two "half" pregnancies (pregnancy, especially the postpartum period, is associated with higher risk of clots), 2 surgeries (also causes a higher risk of clots), and several trans-oceanic flights (also associated with higher clotting risk). About a week after laparoscopic surgery last year, I had the opposite of excessive clotting and instead bled too much, resulting in this lovely hematoma.
  • The pathology report from my first loss does mention that fragments of blood clot were recieved with the placenta and cord, however I think this clot was probably formed at the time of delivery because the placenta did not come out in one piece. No mention of any clots found in either of the placentas in my case.
  • Although all lab tests for thrombophilia came back negative, I still wonder if my circulation is not what it should be, whether because of some clotting issue or something else. I do have some symptoms associated with clotting disorders, including fetal loss (obviously), IUGR (my son was 5 lb. 0 oz. at term), and a possible partial placental abruption during labor with my second child, but no actual evidence of clots.
I have no idea what any of this means. Anything? Nothing? I think the case for thrombophilia as the cause of umbilical cord pathology is weak at best, however I would not bet my child's life on it. If I have the chance at another pregnancy I would try the daily heparin shots - gladly.

1 comment:

Meg P said...

Could you please contact me with your results... If you tried heparin and if it worked or if your medical team found any other results on torsion. My name is Meghan and I suffered
A loss with my first son at 25 weeks due to torsion and now I have a son who was born at 27 weeks also born with the same condition. No clotting disordered appeared in my lab work but my placenta had portions that had died which leads my doctor to maybe believe something is going on. She wants to put me on lovanox next pregnancy with hopes that it may be just what I need. The reason she feels maybe my 27 weeker made it further was due to me taking a baby aspirin my 2nd pregnancy.

If you would please contact me at I would love to talk to you.