Pre-natal screening for BAV?

[yotphix]

My wife is pregnant and our midwife is suggesting that we go to a specialized ultrasound lab to have a fetal echo cardiogram. I appreciate that they're looking out for us, and for out coming little one, but I wonder whether there is really any point in doing this test? If munchkin has a BAV, we can find that out after he/she is born. Or are there other, related or frequently concurrent problems that are associated with BAV that might require intervention either before, during or immediately after birth?
I know that many of you have had children since learning of your condition, so I'd love to hear your own experiences with this sort of stuff.

Thanks,

Paul

 

[Bill B]

Well, this is a fair question. The heritability of BAV is "high" in the view of geneticists, so there is support for echo screening, at least at some point. Early in life the condition is usually benign, so I don't see a significant benefit to prenatal screening, unless perhaps you have close relatives with cardiac anomalies and they were manifest at birth or very early in life. Personally, my BAV was not apparent until I was 60. I believe my mom had BAV (her records are not clear, but she had an AVR and aneurysm repair at age 70). After my experience, we did have our kids screened, but in their 20s, with echos which were negative. Screening may give you some peace of mind (or not), but a good exam at birth will tell the same thing (whether there is anything to worry about soon).

 

[yotphix]

Thanks for the thoughtful reply Bill. That's kind of my instinct on this. In my family, I'm the only known BAV, though I have an aunt who has developed some associated symptoms which have lead me to suggest an echo to her. (Visual migraines and A-fib). In my own case, I was diagnosed at 30, with 'moderate to severe' regurgitation and stenosis. I probably could have been diagnosed earlier, and it might have resulted in my avoiding a series of terrible oral infections. Certainly being diagnosed in my teens would have been adequate. I'm thinking we might just pass on the pre-natal echo, and ask for one once we're at stroller age, unless I'm somehow convinced otherwise, or some more compelling reason turns up.

Paul

 

[Bill B]

Yeah, I wouldn't do it based on a midwife suggestion, but I might if my cardiologist or a geneticist recommended it. I've looked at the inheritance information, which is actually limited. The way the data are expressed is confusing and makes it sound very high (89% "heritability" in one study). It does happen in familial clusters, but as far as I can see the real odds of the BAV genetic anomaly actually being expressed are more like 15-20%, maybe higher if you consider all cardiac anomalies that are associated with BAV. So, my impression is that your munchkin will be fine.

 

[Jkm7]

I agree I would consult a cardiologist before acting on the recommendation of a midwife. JMO.......

I'm sure this is a bit unnerving for you but remember how many times we have read here where parents have tested their children and have found their valves to be fine.

Best wishes with your growing family.

 

[drivetopless]

I wouldn't rush to do this at this time. The doctors know your situation, so the minute the baby arrives they will be listening for a heart murmur.

We have had 3 people in three generations in our family with BAV/AVR, so my nephew was under watch for it when he was born. They still didn't diagnose it until this year (he isnow two). He is 4 person, 4th generation in our family. It was sad, but we also know that he probably won't need corrective surgery for 40-50 years if he follows the family trend. And by then, who knows what the treatment will be.

It's a concern, but probably no need for alarm at this time.

Congrats on the upcoming birth! Happy times!!!

 

[yotphix]

Thanks all, consensus seems to align with my instinct here. And thanks for the congrats too. We're pretty excited about it that's for sure!

 

[ElectLive]

I'm thinking we might just pass on the pre-natal echo, and ask for one once we're at stroller age, unless I'm somehow convinced otherwise, or some more compelling reason turns up.

Great feedback so far, and my thoughts are very much the same. Fetal echocardiograms are not definitive, and there also is a limited window for highest accuracy (18 to 22 weeks - I think). A pediatric cardiologist is likely the only qualified source for making this judgment call. Also, generally speaking, compelling reasons (beyond family history) either would most likely present during standard monitoring and ultrasound and/or post birth evaluation (a murmur for instance). My wife and I opted not to do this both times, and it was not really encouraged anyway. But we took both our girls in to see a pediatric cardiologist and get an echo once the little one was ready.

Congratulations and hope to hear great news later on about the arrival of a baby with perfectly normal heart valves! For what it's worth, this BAVer went 2 for 2 meeting that goal. :thumbup: