Guest guest Posted June 22, 2007 Report Share Posted June 22, 2007 Pam, HLH can sometimes be diagnosed by US during pregnancy - but it is often not as easy as it would seem, and may not be detectable until quite late in pregnancy, and then only if it's being looked for. It develops gradually - the left side of the heart usually starts out ok, but the mitral valve (leaving the left ventricle) is too small/not working. Too little blood goes through, so the chamber (and the artery leaving the heart) doesn't grow (the heart is a muscle and only grows with use)... I've seen patients with " normal 4-chamber view " at 18 weeks and HLH at birth - the left ventricle was still 18 week size at birth. So even a good US at 18-20 weeks (the standard time for US screening) may not pick it up. If someone is at risk for a baby with a heart defect (e.g a previous child with CHARGE), I recommend another US, maybe even a fetal echo at 24-26 weeks. Meg > > Meg (and LIsa) > Funny, I don't know as I have ever seen it listed at HLH--but surely recognize the description. > I am assuming that this could be seen on ultrasound during prenatal testing? > pam > > > Re: Prayers for a CHARGE family > > and Pam, > the Cincinnati Children's website is my favorite site to send people > for explanations of congenital heart defects. I see a lot of that in > my work as a prenatal genetic counselor. HLH is really serious (15 > years ago it was seldom survivable, even as an isolated birth defect > with no other medical issues). HLH as part of CHARGE syndrome is > probably not survivable. I have talked with many parents of babies > with CHARGE and HLH who were deciding not to put their babies through > long painful surgery with little chance of recovery... always very sad. > Meg > > Meg Hefner > Genetic Counselor St. Louis MO > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 22, 2007 Report Share Posted June 22, 2007 Meg, thanks!!!! pam Re: Prayers for a CHARGE family > > and Pam, > the Cincinnati Children's website is my favorite site to send people > for explanations of congenital heart defects. I see a lot of that in > my work as a prenatal genetic counselor. HLH is really serious (15 > years ago it was seldom survivable, even as an isolated birth defect > with no other medical issues). HLH as part of CHARGE syndrome is > probably not survivable. I have talked with many parents of babies > with CHARGE and HLH who were deciding not to put their babies through > long painful surgery with little chance of recovery... always very sad. > Meg > > Meg Hefner > Genetic Counselor St. Louis MO > > Quote Link to comment Share on other sites More sharing options...
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