Genetic counselor

We met with a genetic counselor yesterday for some peace of mind and confidence moving forward. While they can't tell us definintely why this happened, they can help us to rule out a few things.

A few potential causes:
1. Nature. Sometimes things just don't develop--probably the most common. Nothing can be done about it.
2. Genetic kidney disorder that was passed down and manifested in it's worst case.
3. Chromosomal abnormalities that extend beyond the renal system, but affected it's development.

While they say that Potters sequence typically isn't a genetic condition, a small percentage of people with the condition actually do inherit it. If either parent carries a gene abnormality for kidney malfunction, it can be passed onto the child. Sometimes this means the child will have kidney issues, varying from mild (abnormal tubes, etc) to severe (no kidneys). You can usually tell if a parent has this by having an ultrasound done on your renal system, showing any abnormalities. They actually said some people can be missing a kidney their whole lives and have no idea.

Also, we did a full medical history on both of us, and our families extending to 1st cousins, aunts/uncles, and grandparents. While I have a pretty darn healthy family (DH's family has some cancer, mostly lung from smoking), there are some red flags raised of course with my irregular periods, so they're suggesting some bloodwork to further explore the issue to rule out a chromosomal disorder as being the cause of my hormonal imbalances.

Lastly, they are recommending that I get tested for Fragile X syndrome, one of the most common causes of mental retardation and autism. I think this is a little bit more of a stretch, but the best assurance they can give us to rule out issues moving forward.

Right now they're doing some legwork with our insurance to see what they'll cover and what we'll have to pay out of pocket for. After that, we'll evaluate what we want to have done.

So if they find nothing wrong with us, the chances of something like this happening again are somewhere in the 3-8% range. If they find something wrong with either of us, it would be more like 15-20%. With our next pregnancy, they will suggest an ultrasound around 15-16 weeks--the earliest that Potters can be detected. Luckily, they didn't suggest any other sort of testing (amnio, CVS, etc) in future pregnancies.

None of it seems particularly complicated or invasive and actually a few of these items would serve us well not just for peace of mind, but to be able to offer our future children this information for their medical histories. i.e. --if one of us has a kidney issue and that's what caused our baby's death we could go on to have a child who appears completely healthy, but they will carry this gene and it can manifest itself in a variety of ways, but it will most likely show up in some form. But that would give them the heads up to examine our child for any potential issues so that they can be addressed early.

So I'm glad we went to get an idea of what our options are and to talk about the likelihood of it happening again. I just wish that any of this offered us an ounce of prevention, but it just doesn't.