United States, Bill Philadelphia, Michelle discussed on Mom Talk Radio


Unfortunately, most causes birth defects are unknown in my view, Michelle. They're overlooked research is underfunded and birth defects are deadly the leading cause of infant mortality so in the US each year. Nearly a hundred fifty thousand babies are born with birth defects, many weather conditions, so rare most parents even some clinicians have never heard of them. So I'm glad to be on your show to maybe educate some families. Yeah. Because I know obviously when we're pregnant we go for ultrasounds at what point would a mother know that she has a child who may have birth defects. So it's. Important thing maybe in terms of two categories, Anna pretty effect structure ones in genetic defect. So for an Italian birth defects most pregnant mothers in the US at least have an ultrasound down at eighteen to twenty weeks gestation and most in having birth defects should be detectable at that time. And then there there can be risk referral to a central like ours or more sophisticated radiological testing can be done, for instance, with fetal MRI, it's true. You can do an MRI on feed us to give more information. And that's a technique that we invented here at the house Bill Philadelphia about twenty years ago as far as the network effects, go the the standard way in the past for those who say were at higher risk would be to do an amniocentesis or choreography villa sampling. But now there's a new test that requires only a maternal blood sample is called noninvasive prenatal testing or in a PT for short. The way this works is that from the maternal blood. There's a leakage of fetal DNA fetal cells from the fetus across the southern end of the maternal bloodstream, and we have techniques now to find a needle in the haystack. The fetal cells to retrieve the genetic testing with only maternal blood sample, and that's amazing. And I've had that done now. Correct me if I'm wrong does that test for three major birth defects. Correct. Or does it test? A wide array managed genetic abnormalities, the trisomy banks are getting sophisticated hit it to other genetic analysis. And I think what time this may largely replace amniocentesis. That would be amazing because I know I had an amnio it's on and it was such a debate. It was such a debate within my mind, whether or not to do it because they do warn you that it could lead to a miscarriage wanted two hundred right? So yeah, that would be absolutely amazing to have that which could test the. A whole array of of defects. Okay. So parents who know that they have a child who is going to be born with a birth defect. What are some things that they can do prior to the baby being born? I think they need to meet with a team like ours to get get make sure the appropriate. To get information. And really so we've had twenty three thousand referrals to our center since nineteen ninety five this year. We'll buy what about two thousand women carrying babies with birth defects mo- most of which are quite serious only ten percent of those women require any sort of fetal therapy. And you only do fetal therapy if there's progressive damage by the birth defect to Oregon's before birth social when the baby's born you're too late. So it's rare, but we we, of course, have done more fetal surgery operations than any center in the world, but like twin twin transfusion syndrome spina bifida lung tumors things of that sort. Incredible. And what is the expected long term outcome for babies do undergo this feels surgery? Well, let let's let's take one example, so twin twin transfusion syndrome is where there are identical twins in the same year, of course, separate amniotic socks, but as opposed to to settle discs to percenters into which the umbilical cord inserts is only one so they have to share it. And for some reason in some some of these instances, there's a unburied, abnormal blood vessels that go from one side of the Pacific to the other such that one of the twins gets too much blood. It goes to heart failure and develops excess amniotic fluid and the other twin doesn't get enough blood and goes in kidney failure does not produce fetal urine. Which is what most of them yet clue it is and becomes shrink wrapped in the membranes. And both twins will go onto to die at a certain stage. They're doomed but with pitas gothic laser therapy. Putting fetus cope into the uterus? Visualizing episode in the normal blood vessels. And.

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