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What Do These Genetic Test Reports Indicate?

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Posted on Tue, 21 Jul 2015
Question: I've had 2 miscarriages, and the 2nd time it took me a year to get pregnant, (my 1st pregnancy, i got pregnant the 1st time we tried), now that we had our 2nd miscarriage we had a series of genetic tests done, here are the results, and I would appreciate if you could help us interpret the results. I know I have tested positive for both antiphosphatidylserine and insuline resistance, as a result im takinng "myo-inositol", curcumin pills, vitamin D, Konjac root glucomannan (all suplements), and also metformin, Im resitant to take the metformin (1 pill a day), can I actually just improve diet and add exercise instead? considering im trying to get pregnant again? Do I have APS (antiphosphilipid syndrome) And what would that mean? Thank you!
doctor
Answered by Dr. Naval Mendiratta (1 hour later)
Brief Answer:
CAuse of miscarriages

Detailed Answer:
GOod evening

Thank you for writing on health care magic

Well I have reviewed your reports.

1. The possibility of antiphospholipid syndrome looks a bit unlikely here as the Lupus Anticoagulant and B2 glycoprotein 1 are both negative. Anticardiolipin is very mildly positive( 15), but a cut off less than 40 is not considered too significant.

2. Your other tests for prothrombotic state are within normal limits as well.Except Protein C which is high. ( low Levels of protein C are problematic)

With Miscarriages it is always hard to figure out the exact cause. You had a 1st successful pregnancy which would have been unusual with Antiphospholipid syndrome.

1. What i would suggest is, to repeat the tests for antiphospholipid syndrome once after 3 months as well to see if the titres are rising. Also get an ANA test done( another autoimmune marker)

2. As for insulin resistance, definately exercise plays a big role as it increases the utilization of insulin. If metformin is not working, You can hold it. It does not have a definite role in it although most people use it.

Hope the information was useful

Do let me know for more queries

Would be happy to help out

Regards
Dr Naval
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Naval Mendiratta (33 minutes later)
Thank you!

I just wanted to clarify that both of my pregnancies ended up on miscarriages, one in March 2014 (11 weeks) and the second in XXXXXXX 2015 (9 weeks). Does that change the potential for APS?

I was advised to take baby aspirin from now on everyday. Can I take Curcumin pills instead? I was also advised to take Crinone 8% once I get pregnant. Does that put me at risk since I have these two antibodies? Do I have blood-clotting issues based on my test results?

If I tested positive for antiphosphatidylserine and antiphospholipid does that mean I have an autoimmune problem? Does that mean I have to change my diet? How so?

What are these antibodies doing in my system?

Do you think taking a saliva test to test sex hormones (progesterone, estrogen, cortisol, DHEA-S, testosterone) would be helpful at this point to start on progesterone cream before I get pregnant?
doctor
Answered by Dr. Naval Mendiratta (11 hours later)
Brief Answer:
Antiphospholipid Syndrome

Detailed Answer:
Good evening

Thank you for your reply

Pertaining to your queries:

1. Well, for antiphospholipid syndrome there has to be antibody positivity along with the miscarriage events or thrombosis episodes. 2 miscarriages, that also with one after 10 weeks make it highly suspicious. But for now the antibody are negative. Never the less, you should repeat it again after 3 months to see if the titres are on the rise or they are static. Negative antibodies with miscarriage events is less likely APS. I would also suggest you to do ANa and ENA profile which will check for other autoimmune antibodies( for other connective tissue disease). As for antiphosphaditylserine, it another antibody which can be positive in APS but still the role and significance is controversial

2. Aspirin is a safe drug to take, even during pregnancy. It will help in the placenta to get implanted properly with proper blood supply. Most gynecologists use it in normal pregnancy as well. The only medicine which we need to think is , about starting you on Low molecular weight heparin during pregnancy. It is the recommended for APS management in pregnancy especially with miscarriage history. Curcurim pills help to suppress inflammation like in rheumatoid arthritis, but APS is not so much of inflammatory disease. So the role of these pills in APS is not so much.

3. Crinone 8 % is as such safe for pregnancy and progesterone does not trigger the antibody production. IT will help the corpus lutetium of the uterus in secreting the horomones during the pregnancy. If you have insulin resistance, you can get these hormones tested. But I am doubtful any management will change from it as you are able to conceive normally but not able to retain.

4. As per your diet modification, you dont need to change anything as it does not trigger the antibody production. Just dont let your weight increase

I guess the plan should be to continue Aspirin for now and repeat your serological profile after 3 months to look for the antibodies. Do discuss with your gynaecologist about Heparin during pregnancy

Hope the information was useful

Do let me know for more queries

Regards
Dr Naval
Note: For further information on diet changes to reduce allergy symptoms or to boost your immunity, Ask here.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
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Dr. Naval Mendiratta

Rheumatologist

Practicing since :2007

Answered : 754 Questions

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What Do These Genetic Test Reports Indicate?

Brief Answer: CAuse of miscarriages Detailed Answer: GOod evening Thank you for writing on health care magic Well I have reviewed your reports. 1. The possibility of antiphospholipid syndrome looks a bit unlikely here as the Lupus Anticoagulant and B2 glycoprotein 1 are both negative. Anticardiolipin is very mildly positive( 15), but a cut off less than 40 is not considered too significant. 2. Your other tests for prothrombotic state are within normal limits as well.Except Protein C which is high. ( low Levels of protein C are problematic) With Miscarriages it is always hard to figure out the exact cause. You had a 1st successful pregnancy which would have been unusual with Antiphospholipid syndrome. 1. What i would suggest is, to repeat the tests for antiphospholipid syndrome once after 3 months as well to see if the titres are rising. Also get an ANA test done( another autoimmune marker) 2. As for insulin resistance, definately exercise plays a big role as it increases the utilization of insulin. If metformin is not working, You can hold it. It does not have a definite role in it although most people use it. Hope the information was useful Do let me know for more queries Would be happy to help out Regards Dr Naval