Thanks to ChronicBabe for Grand Rounds 4.24!
Tuesday, March 04, 2008
Kenneth F. Trofatter, Jr., MD, PhD
Many thanks to Jenni Prokopy at the award-winning site
ChronicBabe for including a link to my post entitled
"Heterozygosity for Homocystinuria and Heterotaxia Syndromes." in this week's
Grand Rounds 4.24.
I did laugh out loud when Jenni notified me that "even though I had no clue what your post means, I included it...because I think it's interesting that you created a new post from a new reader comment, and my theme is about new beginnings." Although the post may not generate widespread interest, this is another one of those occasions where a curious reader may have stumbled on a previously unsuspected association as the result of having two children affected by what appears to be separate genetic problems. Of course, the two might not be at all related, but it is always exciting to me to explore those sorts of possibilities when there is at least a common thread!
Labels: heterotaxia syndromes, homocystinuria
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2 Comments:
At Fri Mar 07, 04:11:00 PM 2008,
Emilie said…
I don't know if this is the place to ask the expert a question but here it goes: (I have been diagnosed with PCOS and after 6 years of unsuccessful infertility treatments using Prometrium and Clomid also doing artifical fertilization with my husbands sperm. I became pregnant using Prometrium and Clomid. I was pregnant for 9 weeks and then miscarried. I was told the baby had stopped growing at 5 weeks although in an ultrasound 2 days prior to the misscarriage I saw a heart beat.(We had the ultrasound because I had started spotting) I suprisingly got pregnant 3 months later without Clomid and NO periods in between misscarriage and pregnancy. I was extremly stressed about the pregnancy and started spotting but my doctor put me on prometrium and bed rest the bleeding stopped I went back to work until I delivered a healthy baby girl and I now have a beautiful 3 1/2 yr old. I went on to get pregnant without assistance (of course my husband helped) and was put on Prometrium from the start and had an uneventful wonderful pregnancy and now have a 19 month old daughter. I again got pregnant without Clomid a third time, my progesterone levels seemed fine at the begining of the pregnancy but then at 8 weeks they dropped to 12 so I started taking prometrium but in December I miscarried at 12 weeks, and had a D&C. They said the baby was measuring 8 weeks and again stopped growing but I had No spotting, I think because of the prometrium, also a week before the D&C I had a vaginal ultrasound and there was a heartbeat;but a week later at the ultrasound a dead baby. So after this disappointment I was hopeful to get pregnant again I had a period in January and then none in Febuary, I took a pregnacy test around Febuary 23rd (I can't rember the exact date) with a neg. result but still no period so I took one again on March 1st with a positive result,I called our Dr. on the 3rd, early Monday morning and they said to come right in for blood work HCG and Progesterone levels, I did and then later that day I started spotting. I called the doctor immediately they let me know that my progesterone level was at .9 and HCG levels were very low as well like if it was my first week. They also said I would likely miscarry and to get my blood work done again in 2 weeks to make sure it reads zero. I've had like a normal period with cramping and some tissue, nausua and headaches also heartaches! Am I really miscarring? Was this a real pregnancy? If so why two right in a row??? What can I do to prevent another miscarriage? I'm 31, am I too old, I just started have semi regular periods. What questions should I ask my doctor? I know this is a lot of questions do you have any advice?
At Tue Mar 11, 06:28:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Emilie: PCOS is a vicious cycle of worsening hormonal imbalance. It sounds like you really are starting to ovulate very irregularly. If you are serious about doing everything you can to achieve a successsful pregnancy, I would recommend asking your doctor for a referral to a specialist in Reproductive Endocrinology and Infertility. You would probably benefit from a course of metformin for several months prior to attempting conception again and then, if necessary, another attempt at ovulation induction (perhaps with different drugs) and hormonal support early in another pregnancy. Incidentally, your most recent 'pregnancy' may have simply what has been termed a 'chemical pregnancy' in which the embryo did not get very far in development. Best of luck to you and thanks for reading! Dr T
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