scholarly journals Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program

2018 ◽  
Vol 51 (4) ◽  
pp. 480-486 ◽  
Author(s):  
I. Vogel ◽  
O. B. Petersen ◽  
R. Christensen ◽  
J. Hyett ◽  
S. Lou ◽  
...  
2016 ◽  
Vol 36 (12) ◽  
pp. 1112-1114 ◽  
Author(s):  
Dorte Launholt Lildballe ◽  
Ida Vogel ◽  
Ida Charlotte Bay Lund ◽  
Inger Stornes ◽  
Mette Warming Jørgensen ◽  
...  

2014 ◽  
Vol 33 (10) ◽  
pp. 1737-1745 ◽  
Author(s):  
Bryann Bromley ◽  
Thomas D. Shipp ◽  
Jennifer Lyons ◽  
Reshama S. Navathe ◽  
Yvette Groszmann ◽  
...  

2010 ◽  
Vol 20 (2) ◽  
pp. 223-225 ◽  
Author(s):  
Ilda J. G. Rocha ◽  
Rosete M. A. N. Nogueira ◽  
Ana L. C. Carriço

AbstractWe present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70–90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.


Sign in / Sign up

Export Citation Format

Share Document