Carrier Screening: Past, Present, and Future.
作者： Komal Bajaj , Susan J Gross , None
DOI: 10.3390/JCM3031033
关键词:
摘要: To date, preconceptual and prenatal patients have been offered gene-by-gene, disorder-by-disorder carrier screening. Newer techniques allow screening of many disorders at one time. The goal this review is to provide an overview the current practice future direction within preconceptual/prenatal setting.
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Sachiko Nakagawa, Jie Zhan, Wei Sun, Jose Carlos Ferreira, Steven Keiles, Tina Hambuch, Anja Kammesheidt, Brian L. Mark, Adele Schneider, Susan Gross, Nicole Schreiber-Agus, Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis JIMD Reports. ,vol. 6, pp. 1- 6 ,(2012) , 10.1007/8904_2011_120
Julie F Gutiérrez, Komal Bajaj, Susan D Klugman, None, Prenatal Screening for Fragile X: Carriers, Controversies, and Counseling Reviews in Obstetrics and Gynecology. ,vol. 6, ,(2013)
Peter Benn, Audrey R. Chapman, Kristine Erickson, Mark S. DeFrancesco, Louise Wilkins-Haug, James F. X. Egan, Jay Schulkin, Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing Prenatal Diagnosis. ,vol. 34, pp. 145- 152 ,(2014) , 10.1002/PD.4272
Stephanie Hallam, Heather Nelson, Valerie Greger, Cynthia Perreault-Micale, Jocelyn Davie, Nicole Faulkner, Dana Neitzel, Kristie Casey, Mark A. Umbarger, Niru Chennagiri, Alexander C. Kramer, Gregory J. Porreca, Caleb J. Kennedy, Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing The Journal of Molecular Diagnostics. ,vol. 16, pp. 180- 189 ,(2014) , 10.1016/J.JMOLDX.2013.10.006
W. A. Anwar, M. Khyatti, K. Hemminki, Consanguinity and genetic diseases in North Africa and immigrants to Europe. European Journal of Public Health. ,vol. 24, pp. 57- 63 ,(2014) , 10.1093/EURPUB/CKU104
Wayne W. Grody, Barry H. Thompson, Anthony R. Gregg, Lora H. Bean, Kristin G. Monaghan, Adele Schneider, Roger V. Lebo, ACMG position statement on prenatal/preconception expanded carrier screening Genetics in Medicine. ,vol. 15, pp. 482- 483 ,(2013) , 10.1038/GIM.2013.47
Michael S Watson, Garry R Cutting, Robert J Desnick, Deborah A Driscoll, Katherine Klinger, Michael Mennuti, Glenn E Palomaki, Bradley W Popovich, Victoria M Pratt, Elizabeth M Rohlfs, Charles M Strom, C Sue Richards, David R Witt, Wayne W Grody, None, Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel Genetics in Medicine. ,vol. 6, pp. 387- 391 ,(2004) , 10.1097/01.GIM.0000139506.11694.7C
Gabriel A. Lazarin, Imran S. Haque, Shivani Nazareth, Kevin Iori, A. Scott Patterson, Jessica L. Jacobson, John R. Marshall, William K. Seltzer, Pasquale Patrizio, Eric A. Evans, Balaji S. Srinivasan, An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in Medicine. ,vol. 15, pp. 178- 186 ,(2013) , 10.1038/GIM.2012.114
Michael Kaback, Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular Era JAMA. ,vol. 270, pp. 2307- 2315 ,(1993) , 10.1001/JAMA.1993.03510190063028
A. Cao, Y. W. Kan, The prevention of thalassemia. Cold Spring Harbor Perspectives in Medicine. ,vol. 3, ,(2013) , 10.1101/CSHPERSPECT.A011775