Friday, May 22, 2015

Duke neural tube defect study

As I mentioned yesterday, one of our requests for my doctor was that she send a tissue sample from the fetus in for research.  Duke is conducting a genetic study called “The Hereditary Basis of Neural Tube Defects,” to determine the causes of neural tube defects:


I don’t  actually know much about the study.  I found out about it on Tuesday, and contacted the study director (Heidi) that day.  She responded on Wednesday AM and we spoke just minutes before my dilation appointment on Wednesday.  They want (1) a tissue sample from the fetus, (2) blood samples from mom and dad, (3) mom’s pregnancy medical history, and (4) an interview to discuss medical history / pregnancy.  Because we were terminating on Thursday morning, and only speaking to the study coordinator the day before, the most important thing was to ensure that we would have a tissue sample from the fetus.  So at the appointment with my doctor (minutes later) I made sure to clarify how important that was to me that we be able to provide a tissue sample to participate in the study.  I was worried we were going to get push-back, but my doctor was very receptive and agreed to do it. 

It was important to me to be involved in the study, because I do want researchers to figure out if this is genetic, and if anything can be done in advance to warn people.  (Ie if you have a predisposition, go on the super doses of folic acid.)  Also, if there are other environmental triggers, I would want people to know that as well.  If anything at all good can come from this, that would be a great comfort to me. 

I wasn’t sure how my husband was going to feel about it—especially because I sprung it on him last minute at the doctor’s office.  But he was all for it.  He feels the same way I do—if there anything at all good that can come of this, that would be great.

My consent form and small sample of fetal tissue were sent to Duke, and I just found out today that they arrived “in good condition.”  That provides a great relief. 

I’m curious about the questions I’ll be asked. 

One odd thing—the coordinator told me the study has been going on for OVER 20 years (since 1993).  Twenty years!!  Are they actually planning on getting some results??  Okay, that’s not fair.  On the Duke study website there are some short papers talking about some work / preliminary results:


I’ve read that Hispanic women are more likely to have babies with neural tube defects, and the 2014 and 2012 papers talk about a kind of mold of corn they think might be a trigger.  Okay, who cares about eating sushi when you’re pregnant?  STAY AWAY FROM CORN.

The 2012 paper told me what I’ve been worried about ever since I was lucid enough to worry.  Of the 205 women who responded with an anencephaly pregnancy, a statistically significant amount (beyond the general population) engaged in fertility treatments.  I’ve read that one concern about fertility treatments (and IVF specifically) is that it might affect the timing of when genes are turned on and off, and now I’m reading that neural tube defects might be in part because of when certain genes are turned on and off.  Dammit!  Now, before we get too worried, the authors note that obesity and diabetes are well-known risk factors for anencephaly, and yet the self-selected study participants had obesity and diabetes far below the average population.  The authors hypothesized that women with diabetes/obesity with babies with anencephaly were less likely to seek out the reasons for anencephaly (and thus participate in the study) because they already knew what their issue probably was.  Well, I submit the opposite is true as well.  Do you know what women who go through all the research/time/effort/investment of fertility treatments do once they have a baby with anencephaly?  They go looking for ANSWERS.  They want to enroll in a goddamned study!  So while I am worried that my IVF played a roll (and potentially significant one) in the baby’s anencephaly, I’m hopeful that’s not the case.

The 2010 report (and a paper it references) suggests that their research shows a 6.3% chance of having a second baby with a neural tube defect once you’ve had a first, and girl is more likely to be affected.  Unhappy face.


The most interesting paper is the first one from 2004, because it gives a biology 101 lesson about genes, chromosomes, and the genetics of “complex” disorders like anencephaly (which may be caused by many factors, including gene susceptibility and environment).

Once I know more about the study, I’ll give an update.

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