Congenital heart disease - aneuploidy

Post on 12-May-2015

492 views 4 download

Tags:

description

Total AVSD in Down syndrome case

Transcript of 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. 

Lower then 4-chamber MI mitral valve; dAo descendet Aorta; Tri Tricuspid valve;

LA ?left atrium/?enlarge coronal sinus

5 ch. view

3 vessel view and aortic arch(there is a hypothymus?)

Other 3 vessel view???(there is a persistent superior left vena cava??)

Other aortic arch view(T – tracheea, VC – vena cava r-right/l-left)

VSD

VSD

VSD(on my sonoiew I have a clip, vAo is Aortic valve with normal kinesya, DSV –VSD)

What I think:- Mitral stenosis (SM) and inverse flow in foramen ovale (Fo) in atrial sistola. Most of LV is fielld by SVD

Or LA is enlarge coronal sinus (persistent LSVC) and RA is unique atrium ????

My supposition:

• 1-- mitral stenosis (valvular lesion or enlarge coronal sinus) + VSD + persistent LSVC

• 2 – total AVSD + persistent LSVC (+enlarge coronal sinus)

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