Congenital heart disease - aneuploidy

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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.

description

Total AVSD in Down syndrome case

Transcript of Congenital heart disease - aneuploidy

Page 1: Congenital heart disease - aneuploidy

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