scholarly journals Quadruple Screening in the Age of Cell-Free DNA: What are We Losing?

OBM Genetics ◽  
2021 ◽  
Vol 05 (03) ◽  
pp. 1-1
Author(s):  
Alison Schmidt ◽  
◽  
Anthony Shanks ◽  

Cell-free DNA has emerged as the most reliable, non-invasive prenatal screening tool for fetal aneuploidies. It has come to replace the previously widely used quadruple screen offered in the second trimester of pregnancy. This change comes with improved detection for aneuploidy but also presents potential gaps in prenatal diagnosis including detection of open fetal defects and emerging data on prediction of adverse pregnancy outcomes. This review article provides a historical summary of the quadruple marker screen and evaluates the intersection of this screen with cell-free DNA. Furthermore, it discusses points to consider as providers trend toward cell-free DNA testing alone and reviews potential options to remedy any disparities.

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.


2020 ◽  
Vol 56 (S1) ◽  
pp. 32-32
Author(s):  
A. Familiari ◽  
B. Ischia ◽  
V. Accurti ◽  
I. Fabietti ◽  
S. Boito ◽  
...  

2021 ◽  
Author(s):  
Peter G. Scheffer ◽  
Soetinah A.M. Wirjosoekarto ◽  
Ellis C. Becking ◽  
Marjan M. Weiss ◽  
Caroline J. Bax ◽  
...  

2017 ◽  
Vol 37 (11) ◽  
pp. 1067-1075 ◽  
Author(s):  
Henna V. Advani ◽  
Angela N. Barrett ◽  
Mark I. Evans ◽  
Mahesh Choolani

2020 ◽  
Vol 22 ◽  
pp. 101-108 ◽  
Author(s):  
Xiaosong Yuan ◽  
Lingna Zhou ◽  
Bin Zhang ◽  
Huiyan Wang ◽  
Bin Yu ◽  
...  

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