Congenital heart disease - aneuploidy

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Total AVSD in Down syndrome case

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Congenital heart disease - aneuploidy

  1. 1. 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. 
  2. 2. Lower then 4-chamber MI mitral valve; dAo descendet Aorta; Tri Tricuspid valve; LA ?left atrium/?enlarge coronal sinus
  3. 3. 5 ch. view
  4. 4. 3 vessel view and aortic arch (there is a hypothymus?)
  5. 5. Other 3 vessel view??? (there is a persistent superior left vena cava??)
  6. 6. Other aortic arch view (T – tracheea, VC – vena cava r-right/l-left)
  7. 7. VSD
  8. 8. VSD
  9. 9. VSD (on my sonoiew I have a clip, vAo is Aortic valve with normal kinesya, DSV –VSD)
  10. 10. What I think:- Mitral stenosis (SM) and inverse flow in foramen ovale (Fo) in atrial sistola. Most of LV is fielld by SVD
  11. 11. Or LA is enlarge coronal sinus (persistent LSVC) and RA is unique atrium ????
  12. 12. My supposition: <ul><li>1-- mitral stenosis (valvular lesion or enlarge coronal sinus) + VSD + persistent LSVC </li></ul><ul><li>2 – total AVSD + persistent LSVC (+enlarge coronal sinus) </li></ul>
  13. 13. My management: <ul><li>Amniocentesis: </li></ul><ul><li>Karyotyping - and if is normal FISH for di George (hipo thymus + CHD, at this moment I do not find any facial anomaly) </li></ul><ul><li>Results: T21mosaicism </li></ul><ul><li>Therapeutrical Abortion </li></ul><ul><li>Thank you </li></ul>

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