scholarly journals Measuring maternal serum screening markers for Down’s syndrome in plasma collected for cell-free DNA testing

2016 ◽  
Vol 24 (3) ◽  
pp. 113-119 ◽  
Author(s):  
Geralyn M Lambert-Messerlian ◽  
Elizabeth E Eklund ◽  
Louis M Neveux ◽  
Glenn E Palomaki
Author(s):  
Amber Mathiesen ◽  
Kali Roy

This chapter provides information about a genetic counselor’s role in prenatal screening, including discussing and offering options to a patient, interpreting and providing results, or managing referrals based on abnormal results. It discusses how a screen is evaluated using sensitivity, specificity, positive predictive value, negative predictive value, and personal utility. It provides a detailed description of both maternal serum screening and cell-free DNA testing. The maternal serum screening discussion includes information on multiples of median, calculating risk, timing, pattern association, limitations, and follow-up. The review of cell-free DNA testing includes fetal fraction, methodology, test performance, limitations and considerations for testing, and follow-up. This chapter also provides a list of additional resources to use for cell-free DNA testing.


Public Health ◽  
1997 ◽  
Vol 111 (6) ◽  
pp. 383-385
Author(s):  
S Fairgrieve ◽  
D Magnay ◽  
I White ◽  
J Burn

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