News Items

American College of Medical Genetics and Genomics (ACMG) statement supporting use of noninvasive prenatal tests (NIPT/NIPS)

On July 28th, the American College of Medical Genetics and Genomics (ACMG) released a statement supporting the use of noninvasive prenatal tests (NIPT/NIPS) as an optimal, initial option to screen for specific genetic conditions, such as Trisomy 21, during pregnancy for all women, regardless of maternal age. “Informing all pregnant women that NIPS is the most sensitive screening option for traditionally screened aneuploidies (i.e., Patau, Edwards, and Down syndromes)” See the news release Data supports growing consensus for NIPT As data increasingly supports the use of NIPT, ACMG is the most recent member of the medical community to advocate for its broader adoption. ACMG makes additional recommendations for prenatal screening ACMG also made several other NIPT-related recommendations, including those pertaining to select CNVs (microdeletions), rare trisomies, and genome-wide CNVs:
  • ACMG recommends informing all pregnant women of the availability of the expanded use of NIPT to screen for clinically relevant CNVs (microdeletions) and suggests specific discussion points that should be covered during this conversation.
  • ACMG does not recommend NIPS to screen for autosomal aneuploidies other than those involving chromosomes 13, 18, and 21.
  • ACMG does not recommend NIPS to screen for genome-wide CNVs. If this type of information is desired, it recommends diagnostic testing with chromosomal microarray analysis.