congenital heart disease - aneuploidy
DESCRIPTION
Total AVSD in Down syndrome caseTRANSCRIPT
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Less common CHD
We report a case of a fetal heart lesion diagnosed at 19 weeks of pregnancy. Patient was a 29-year-old G1P0 with unremarkable
personal history.
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Lower then 4-chamber MI mitral valve; dAo descendet Aorta; Tri Tricuspid valve;
LA ?left atrium/?enlarge coronal sinus
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5 ch. view
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3 vessel view and aortic arch(there is a hypothymus?)
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Other 3 vessel view???(there is a persistent superior left vena cava??)
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Other aortic arch view(T – tracheea, VC – vena cava r-right/l-left)
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VSD
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VSD
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VSD(on my sonoiew I have a clip, vAo is Aortic valve with normal kinesya, DSV –VSD)
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What I think:- Mitral stenosis (SM) and inverse flow in foramen ovale (Fo) in atrial sistola. Most of LV is fielld by SVD
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Or LA is enlarge coronal sinus (persistent LSVC) and RA is unique atrium ????
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My supposition:
• 1-- mitral stenosis (valvular lesion or enlarge coronal sinus) + VSD + persistent LSVC
• 2 – total AVSD + persistent LSVC (+enlarge coronal sinus)
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My management:
• Amniocentesis:• Karyotyping - and if is normal FISH for di George (hipo thymus + CHD, at
this moment I do not find any facial anomaly)
• Results: T21mosaicism• Therapeutrical Abortion
• Thank you