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2016 ; 5
(ä): 2591
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Recent advances in prenatal genetic screening and testing
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Van den Veyver IB
F1000Res
2016[]; 5
(ä): 2591
PMID27853526
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The introduction of new technologies has dramatically changed the current
practice of prenatal screening and testing for genetic abnormalities in the
fetus. Expanded carrier screening panels and non-invasive cell-free fetal
DNA-based screening for aneuploidy and single-gene disorders, and more recently
for subchromosomal abnormalities, have been introduced into prenatal care. More
recently introduced technologies such as chromosomal microarray analysis and
whole-exome sequencing can diagnose more genetic conditions on samples obtained
through amniocentesis or chorionic villus sampling, including many disorders that
cannot be screened for non-invasively. All of these options have benefits and
limitations, and genetic counseling has become increasingly complex for providers
who are responsible for guiding patients in their decisions about screening and
testing before and during pregnancy.