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benbraddock560 karma

Here's the problem: genetic testing can certainly check lots and lots of things, but there are some things that are more uncommon -- Zellweger's, it seems, is one -- that they wouldn't normally check for in the absence of indication to check. An experienced genetic counselor should be invaluable in this stage. (Certainly, having had a child with a genetic abnormality would be a reason to check for that particular anomaly in subsequent pregnancies. In terms of the ultrasound, that's tricky stuff. I was a high-risk OB sonographer (ultrasound tech) a while back, and in the two hospital units where I worked, we unfortunately had many patients who either were referred to us to check on something (either by ultrasound or amnio, which we did in our unit) or we found something incidentally on US. Many, many tragic and heartbreaking times with patients. So, for information: ultrasound can identify some physical anomalies that don't have a genetic basis. That is, genetic testing through amnio or CVS or any other method could come back perfectly fine, but the ultrasound might pick up, say, hydrocephalus or a blocked ureter. Now, some genetic anomalies have corresponding physical indications that can be seen by US in the fetus -- Trisomy 21 (Down Syndrome) has certain common indications that might be found on ultrasound. One of these indications is nuchal thickening, which means that the skin on the back of the neck is unusually thick when measured. That in and of itself doesn't necessarily mean the fetus has Trisomy 21, but along with other indications could suggest that there could be a cause for concern. Note that some people do not want to have genetic testing like an amniocentesis because it poses more risk to the pregnancy than the parents are comfortable taking.) The genetic counselor can clarify the risk levels of having a condition, having a procedure, and how to make the decision. To some degree, it's a numbers thing, but that leaves out the personal factor. (Let's say you're told that the findings on ultrasound suggest that there's a 3% likelihood that there's a particular genetic disorder, but the risk of miscarriage after an amnio is 5% [these are not actual numbers; they're just to illustrate the point.] at that time during the pregnancy. By the numbers, one might say you're better off not having the amniocentesis, as the risk is higher than that of the suspected genetic anomaly. But here's the trick: how willing are you to take a risk of the child having that anomaly? Some people might figure, we have two young children, and if we forego the amnio in the interest of not posing that risk to the pregnancy, and if it turns out that we're in that small percentage and have a severely disabled child, our older ones will be forever affected by having a disabled sibling and, in fact, might have to care for that sibling once we -- the parents -- are no longer here. So, I would rather risk the pregnancy than risk the condition. See, it's a very, very personal situation. Two more points on this unreasonably long message. One: generally speaking, I would recommend that you get any ultrasounds done at a hospital with a unit that deals with all of this stuff on a daily basis. The doctors (assuming they're good ones) are highly experienced with identifying these problems that can be seen on ultrasound, and the ultrasound techs are highly specialized (again, assuming you have good ones) and know how to get the images that are going to show the presence or absence of the conditions. As well, hospitals can afford the more sophisticated and powerful equipment that simply outclasses the smaller, usually portable, ultrasound machine you would usually find in the OB's office. I would opt for the this -- at, for instance, a Maternal-Fetal Medicine unit or Perinatal Medicine unit -- in any case, but especially if you have an at-risk pregnancy, I would say this is definitely the way to go. And finally, and I know this is not especially reassuring, but as valuable as all the prenatal testing we have is, there are still some things that can't be predicted using all the available methods. Autism does not show up on ultrasound. Neither does a mood disorder, like depression. I'm a believer in getting information -- I don't see how one can make informed decisions without it -- but it would be a mistake to believe that the prenatal testing can guarantee that you won't have significant challenges down the line. I don't mean to be a discouraging; rather, I'm trying to encourage new parents (and parents-to-be) to be prepared to do what you need to do for your kids if something unexpected comes to light down the road. (This is coming from the father of 25 year old and a 26 year old.) Wombat and Kopf: I wish you the very, very best with your child or children to come.

benbraddock57 karma

So what happens if you don't turn back up soon enough and your mind (and body) is screaming for air? How can you force yourself not to reflexively try to get oxygen by opening your mouth or breathing in water?

benbraddock56 karma

Can you explain that last bit, about how you hold your breath until you surface? Doesn't your mind go into a panic, maybe entirely out of your control, and tell your body to breathe?

Have you ever had an experience in which you did try to breathe in before you could surface?

benbraddock53 karma

Thanks for your patience and answers.

benbraddock52 karma

What are you thoughts on the drops that claim to be good at temporarily overcoming presbyopia?