Journal
SEMINARS IN PERINATOLOGY
Volume 40, Issue 1, Pages 44-55Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.semperi.2015.11.007
Keywords
Genetic counseling; Prenatal diagnosis; Genetic carrier screening; Cell-free DNA screening; Non-invasive prenatal screening; Chromosome microarray
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Funding
- National Institute of Child Health and Development, United States
- National Institute of Child Health and Development, United States, National Institutes of Health, United States [UO1-HD-055651]
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Genetic carrier screening, prenatal screening for aneuploidy, and prenatal diagnostic testing have expanded dramatically over the past 2 decades. Driven in part by powerful market forces, new complex testing modalities have become available after limited clinical research. The responsibility for offering these tests lies primarily on the obstetrical care provider and has become more burdensome as the number of testing options expands. Genetic testing in pregnancy is optional, and decisions about undergoing tests, as well as follow-up testing, should be informed and based on individual patients' values and needs. Careful pre- and post-test counseling is central to supporting informed decision-making. This article explores three areas of technical expansion in genetic testing: expanded carrier screening, non-invasive prenatal screening for fetal aneuploidies using cell-free DNA, and diagnostic testing using fetal chromosomal microarray testing, and provides insights aimed at enabling the obstetrical practitioner to better support patients considering these tests. (C) 2016 Elsevier Inc. All rights reserved.
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