scholarly journals Technical standards and guidelines: Prenatal screening for Down syndrome: This new section on “Prenatal Screening for Down Syndrome,” together with the new section on “Prenatal Screening for Open Neural Tube Defects,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories*

2005 ◽  
Vol 7 (5) ◽  
pp. 344-354 ◽  
Author(s):  
Glenn E Palomaki ◽  
Linda A Bradley ◽  
Geraldine A McDowell
2008 ◽  
Vol 11 (6) ◽  
pp. 359-367
Author(s):  
Mirjam Hoogendoorn ◽  
Silvia M.A.A. Evers ◽  
Peter C.J.I. Schielen ◽  
Marianne L.L. van Genugten ◽  
G. Ardine de Wit ◽  
...  

2012 ◽  
pp. 25-36
Author(s):  
Phan Tuong Quynh Le ◽  
Viet Nhan Nguyen

Objectives: Design an “in-house” software for calculating the risk of fetus has Down syndrome, Edwards syndrome and open neural tube defects in prenatal screening at the gestational age 15-22. Methods: Based on the Excel program of Microsoft Office and the articles with the Excel of Microsoft Office and the related articles have been published. Results: In cases have the risk of trisomy 21 with the range from 1/251 to 1/350: the risk tends to be lower than Prisca (83.7%). In cases have the high risks of trisomy 21 in screening but the results of prenatal diagnosis are not trisomy: the risks of “in house” software are lower than the risks of Prisca (73%) with 29% of cases has the risks less than 1/250. In cases of trisomy 18 with the risks are lower than 1/150: there are statistical significant differences between the two softwares (P <0.05). In screening open neural tube defects, the cases have the threshold higher than 1.50 MoM AFP: The results in the “in house” software tend to higher than Prisca (94%). The cases have the threshold lower than 1.50 MoM AFP: Where the disability screening of neural tube openings with thresholds lower than 1.5 MoM AFP: there are no statistical significant differences between the two softwares (P >0.05). Conclusion: The “in house” software has all the necessary functions for calculating the risk of Down syndrome, Edwards syndrome and open neural tube at the gestational age 15-22.


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