Look before you leap: genomic screening in obstetrics and gynecology

Obstet Gynecol. 2015 Jun;125(6):1299-1305. doi: 10.1097/AOG.0000000000000871.


There are a number of new genetic tests and a variety of recommendations for obstetrician-gynecologists. In recent years, screening of low-risk pregnant women with noninvasive prenatal testing has been proposed as well as universal BRCA1 and BRCA2 screening of all women regardless of risk status. Both proposed genetic screening tests raise complicated issues relating to predictive value, cost, and consequences after screening to both the health care system as a whole as well as serious potential adverse consequences for the patient. In addition, there are significant barriers relating to clinician education in proper use of these genetic tests as well as logistic issues of performing adequate genetic counseling in a busy general practice. We recommend that pregnant women offered noninvasive prenatal testing be informed of its advantages and disadvantages compared with standard screening with the caveat that positive noninvasive prenatal tests must be confirmed with further, invasive testing. We recommend against population genetic screening of all women for BRCA1 and BRCA2 mutations until there are comprehensive data regarding harms and benefits as well as cost-effectiveness. Finally, we recommend that new educational models for genetics be developed for obstetrics and gynecology residency training so that future health care providers will be prepared for the opportunities and challenges that genetic testing creates.

MeSH terms

  • Chromosome Aberrations
  • Cost-Benefit Analysis
  • False Positive Reactions
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling
  • Genetic Testing*
  • Genetics / education
  • Genomics
  • Gynecology* / education
  • Humans
  • Mass Screening
  • Mutation
  • Obstetrics* / education
  • Predictive Value of Tests
  • Pregnancy