Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide

J Womens Health (Larchmt). 2017 Jul;26(7):755-761. doi: 10.1089/jwh.2016.6098. Epub 2017 Apr 7.


Aims: In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice.

Results: During the 2-day symposium, participants discussed the implications of the shift toward broader prenatal screening using cell-free placental DNA in maternal serum (cfDNA screening). Key topics included challenges around the pace of change in the prenatal screening market, uncertainty around reimbursement, meeting the need for patient counseling, and potential challenges in interpreting and returning cfDNA screening results.

Innovation: Here, we describe the challenges discussed and offer clinical recommendations for practices who are working to meet them.

Conclusion: As the spread of prenatal genetic screening continues, providers will increasingly need to update their practice to accommodate new screening modalities.

Keywords: genetic testing; prenatal care; prenatal counseling.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / blood*
  • Female
  • Genetic Counseling
  • Genetic Testing / methods*
  • Genomics*
  • Gynecology
  • Humans
  • Obstetrics*
  • Practice Guidelines as Topic*
  • Pregnancy
  • Prenatal Diagnosis*


  • DNA