PUBLICATIONS AND GUIDELINES

Publications and Guidelines

In support of the broadening use of NIPT, several key professional societies and independent assessment organizations have now issued recommendations that NIPT be used as a primary screening method for aneuploidy for all pregnancies, including:

  • The American College of Medical Genetics and Genomics (ACMG): http://www.acmg.net/docs/NIPS_AOP.pdf
    • If we can highlight this guideline saying, “ACMG is the most recent professional society to recommend NIPT as a front line screen” and put it at the top that would be great....
  • American Society of Human Genetics (ASHG): http://www.nature.com/ejhg/journal/v23/n11/full/ejhg201557a.html
  • International Society of Prenatal Diagnosis (ISPD):https://www.ispdhome.org/docs/ISPD/Society%20Statements/PositionStatement_Current_8Apr2015.pdf
  • Blue Cross Blue Shield Association's Technology Evaluation Center: http://www.bcbs.com/cce/vols/27/sequencing-based-tests-to.htm and http://www.bcbs.com/cce/press/noninvasive-prenatal.html
  • The American College of Obstetricians and Gynecologists (ACOG), together with the Society for Maternal-Fetal Medicine (SMFM), published a Committee Opinion in September 2015 removing the limitation of NIPT to "high risk" women.
  • The American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin 226 states, under its Level A recommendations ("Recommendations and Conclusions are Based on Good Consistent Scientific Evidence"):
    • "Screening (serum screening with or without NT ultra-sound or cell-free DNA screening) and diagnostic testing (CVS or amniocentesis) for chromosomal abnormalities should be discussed and offered to all patients early in pregnancy regardless of maternal age or baseline risk.
    • Cell-free DNA is the most sensitive and specific screening test for the common fetal aneuploidies (trisomies 21, 13 and 18) and can be performed any time after 9-10 weeks after gestation"