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ACMG_Policy_Statememt_NIPS_May2013_GIM.pdf
Preview of https://www.acmg.net /docs/ACMG_Policy_St atememt_NIPS_May2013 _GIM.pdf
🔗 Source: acmg.net
📊 Size: 465 KB
👤 Author: Anthony R. Gregg
⬇️ Downloads: 169

Summary

The American College of Medical Genetics and Genomics (ACMG) believes genetic technology, particularly in prenatal settings, should be supported by clinical trials and carefully considered before incorporation into routine care. Noninvasive prenatal screening (NIPS) using cell-free fetal DNA sequences from maternal blood samples has been developed, offering high sensitivity and specificity with low false-positive rates. However, NIPS has limitations, including non-uniform specificity and sensitivity for all chromosomes, false-positive results, and the potential for not reflecting the true fetal karyotype. Invasive testing is recommended for confirmation of positive screening tests. NIPS is a screening test for common autosomal aneuploidies and should be used in conjunction with invasive procedures for definitive diagnosis. Current limitations of NIPS include limited risk assessment to specific fetal aneuploidies, inability to detect chromosomal abnormalities such as unbalanced translocations, and inability to distinguish specific forms of aneuploidy.

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The American College of Medical Genetics and Genomics (ACMG) believes genetic technology, particularly in prenatal settings, should be supported by clinical...

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  • File Format: PDF
  • File Size: 465 KB
  • Pages: 4
  • Language: EN
  • Author: Anthony R. Gregg
  • Total Downloads: 169
  • Last Updated: 3 weeks ago

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