Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide

Journal of Women's Health

Volumn 26, Issue 7, 2017, Pages 755-761

  Allyse, Megan ^a   Aypar, Umut ^a   Bonhomme, Natasha ^b   Darilek, Sandra ^c   Dougherty, Michael ^d   Farrell, Ruth ^e   Grody, Wayne ^f   Highsmith, W Edward ^a   Michie, Marsha ^g   Nunes, Mark ^h,i   Otto, Laura ^a   Pabst, Rebecca ^j   Palomaki, Glenn ^k   Runke, Cassandra ^a   Sharp, Richard R ^a   Skotko, Brian ^l,m   Stoll, Katie ⁿ   Wick, Myra ^a  

^a MAYO CLINIC   (United States)

^b Expecting Health   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d University of Colorado Denver and Children s Hospital Colorado   (United States)

^e LERNER RESEARCH INSTITUTE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

ⁱ KAISER PERMANENTE   (United States)

^j Gundersen Health System   (United States)

^k BROWN UNIVERSITY   (United States)

^l MASSACHUSETTS GENERAL HOSPITAL   (United States)

^m HARVARD MEDICAL SCHOOL   (United States)

ⁿ Genetic Support Foundation   (United States)

more..

Author keywords

genetic testing; Prenatal care; prenatal counseling

Indexed keywords

ARTICLE; CLINICAL PRACTICE; GENETIC SCREENING; HUMAN; MATERNAL SERUM; MEDICAL GENETICS; PATIENT COUNSELING; PATIENT EDUCATION; PRACTICE GUIDELINE; PRENATAL SCREENING; PRIORITY JOURNAL; REIMBURSEMENT; UNCERTAINTY; BLOOD; FEMALE; GENETIC COUNSELING; GENOMICS; GYNECOLOGY; OBSTETRICS; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES;

DNA;

DNA; FEMALE; GENETIC COUNSELING; GENETIC TESTING; GENOMICS; GYNECOLOGY; HUMANS; OBSTETRICS; PRACTICE GUIDELINES AS TOPIC; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 85024391923     PISSN: 15409996     EISSN: 1931843X     Source Type: Journal    
DOI: 10.1089/jwh.2016.6098     Document Type: Article

References (26)

1. Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Use of the combined first-trimester screen in high-and low-risk patient populations after introduction of noninvasive prenatal testing. J Ultrasound Med 2015;34: 1423-1428.
2. Ehrich M, Deciu C, Zwiefelhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting. Am J Obstet Gynecol 2011;204:205. e1-e11.
3. Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. BMJ 2011;342:c7401.
4. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect down syndrome: An international clinical validation study. Genet Med 2011;13:913.
5. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as down syndrome: An international collaborative study. Genet Med 2012;13:296-305.
6. Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233-1241.
7. Rabinowitz M, Savage M, Pettersen B, Sigurjonsson S, Hill M, Zimmermann B. Noninvasive cell-free dna-based prenatal detection of microdeletions using single nucleotide polymorphism-targeted sequencing. Obstet Gynecol 2014;123 Suppl 1:167S.
8. Dharajiya N, Monroe T, Boomer T, Jenna W, Jesiolowski J, Salvidar J. NIPT 2. 0: Identification of 22q microdeletions by non-invasive prenatal testing. Prenat Diagn 2014;34(Suppl. 1):1-21.
9. Yatsenko SA, Peters DG, Saller DN, Chu T, Clemens M, Rajkovic A. Maternal cell-free dna-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genet Med 2015;17:836-838.
10. Agarwal A, Sayres LC, Cho MK, Cook-Deegan R, Chandrasekharan S. Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn 2013;33: 521-531.
11. Chandrasekharan S, McGuire AL, Van den Veyver IB. Do recent US supreme court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care? Prenat Diagn 2014;34:921-926.
12. Kitzman JO, Snyder MW, Ventura M, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012;4:137ra76.
13. Lo YM, Chan KC, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010;2:61ra91.
14. Snyder MW, Simmons LE, Kitzman JO, et al. Noninvasive fetal genome sequencing: A primer. Prenat Diagn 2013; 33:547-554.
15. Maron D. What fetal genome screening could mean for babies and parents. Sci Am 2014. Available at: www . scientificamerican. com/article/what-fetal-genome/ Accessed March 1, 2015.
16. Regalado A. Prenatal DNA sequencing. MIT Technol Rev 2013. Available at: www. technologyreview. com/s/513691/ prenatal-dna-sequencing/ Accessed March 1, 2017.
17. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American College of Medical Genetics and Genomics. Genet Med 2016;18:1056-1065.
18. Minear M, Alessi S, Michie M, Allyse M, Chandrasakharan S. Where are we now with non-invasive prenatal testing?: A review of current and emerging ethical, legal, and social issues. Annu Rev Genet Genomics 2015;16:369-398.
19. Daley B. When baby is due, genetic counselors seen downplaying false alarms. Boston Globe 2016
20. Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013;33:667-674.
21. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: Updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249-266.
22. Wang JC, Sahoo T, Schonberg S, et al. Discordant noninvasive prenatal testing and cytogenetic results: A study of 109 consecutive cases. Genet Med 2015;17: 234-236.
23. Bianchi DW. Prepare for unexpected prenatal test results. Nature 2015;522:29-30.
24. Schwartz MD, Valdimarsdottir HB, Peshkin BN, et al. Randomized noninferiority trial of telephone versus inperson genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol 2014;32:618-626.
25. Gregg AR, Van den Veyver IB, Gross SJ, Madankumar R, Rink BD, Norton ME. Noninvasive prenatal screening by next-generation sequencing Annu Rev Genomics Hum Genet 2014;15:327-347.
26. Allyse M, Minear MA, Berson E, et al. Non-invasive prenatal testing: A review of international implementation and challenges. Int J Womens Health 2015;7:113.