Smoking in pregnancy is associated with increased total maternal serum cell-free DNA levels

2008 ◽  
Vol 28 (3) ◽  
pp. 186-190 ◽  
Author(s):  
Adam C. Urato ◽  
Inga Peter ◽  
Jacob Canick ◽  
Geralyn Lambert-Messerlian ◽  
Andrea Pulkkinen ◽  
...  
2017 ◽  
Vol 50 ◽  
pp. 44-44
Author(s):  
M. Smet ◽  
N. Chan ◽  
A. McLennan ◽  
F. da Silva Costa

2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Author(s):  
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  
...  

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  


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.


2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  


2005 ◽  
Vol 193 (2) ◽  
pp. 421-425 ◽  
Author(s):  
Antonio Farina ◽  
Erik S. LeShane ◽  
Roberto Romero ◽  
Ricardo Gomez ◽  
Tinnakorn Chaiworapongsa ◽  
...  

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

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