The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal NIPS.

Author(s):  
Lena Sagi-Dain ◽  
Amihood Singer ◽  
Reeval Segel ◽  
Racheli Berger ◽  
Bibi Kanengisser-Pines ◽  
...  
2014 ◽  
Vol 10 (3) ◽  
pp. 193-208 ◽  
Author(s):  
Thor Thorsson ◽  
William W. Russell ◽  
Nour El-Kashlan ◽  
Rachel Soemedi ◽  
Jonathan Levine ◽  
...  

2018 ◽  
Vol 6 (2) ◽  
pp. 200-212 ◽  
Author(s):  
Natalie S. Hauser ◽  
Benjamin D. Solomon ◽  
Thierry Vilboux ◽  
Alina Khromykh ◽  
Rajiv Baveja ◽  
...  

2003 ◽  
Vol 13 (4) ◽  
pp. 341-344 ◽  
Author(s):  
Eli Zalzstein ◽  
Robert Hamilton ◽  
Nili Zucker ◽  
Samuel Diamant ◽  
Gary Webb

Objective: To heighten the awareness of pediatricians and pediatric cardiologists to aortic dissection, a potentially dangerous medical condition. Methods: We reviewed the charts of 13 patients, seen in four medical centers, who suffered acute or chronic aortic dissection over the period 1970 through 2000 whilst under the age of 25 years. Results: There were seven male and six female patients, with the mean age at diagnosis being 12.1 years, with a range from one day to 25 years. Congenital cardiac defects were present in five patients, and Marfan syndrome in four. In three of the patients with congenital cardiac defects, aortic dissection developed as a complication of medical procedures. In three patients, dissection followed blunt trauma to the chest. We could not identify any risk factors in one patient. The presenting symptoms included chest pain in four patients, abdominal pain and signs of ischemic bowel in two, non-palpable femoral pulses in one, and obstruction of the superior caval vein in one. Angiography and magnetic resonance imaging were the main diagnostic tools. Overall mortality was 38%. Only six patients had successful surgical outcomes. Conclusion: Due to the rarity of aortic dissection a high index of suspicion is required to reach the diagnosis in a timely manner. It should be considered in young patients complaining of chest pain in association with Marfan syndrome, anomalies of the aortic valve and arch, and chest trauma.


PEDIATRICS ◽  
1979 ◽  
Vol 63 (6) ◽  
pp. 890-893
Author(s):  
Marvin E. Miller ◽  
David W. Smith

Two families are described in which there is possible monogenic inheritance of congenital cardiac defects within the spectrum of faulty conotruncal septation (CTS). Evidence for a genetic control of conotruncal septation arises from genetic and embryologic studies of similar defects in the Keeshond dog model, the excess of sibship pairs with conotruncal septation defects in sibship pairs with congenital heart disease, and previously reported pedigrees of families with multiple affected individuals with conotruncal septation defects. It is suggested that in the small number of cases of congenital cardiac defects in which there is a strong family history for CTS defects, a higher recurrence risk should be considered rather than the usual polygenic recurrence risk of 3% that is usually given in such situations.


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