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10.12688/f1000research.9215.1

http://scihub22266oqcxt.onion/10.12688/f1000research.9215.1
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C5089140!5089140 !27853526
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suck abstract from ncbi


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pmid27853526
      F1000Res 2016 ; 5 (ä): 2591
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  • Recent advances in prenatal genetic screening and testing #MMPMID27853526
  • Van den Veyver IB
  • F1000Res 2016[]; 5 (ä): 2591 PMID27853526 show ga
  • 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.
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