Fetal Screening and Whole Genome Sequencing: Where are the Limits?

Susan Hancock, Katherine Johansen Taber and James D. Goldberg

Genetic conditions contribute significantly to human morbidity and mortality. The importance of genetics is clear in the setting of pregnancy, not only to prenatal healthcare providers, but also to pregnant patients, who acknowledge that the genetic contributions of the parents have significant impact on the offspring. For patients, this often is displayed in a hopeful wondering about their future child, presenting itself in the near universal dialogue of what characteristics may be expected: Will they have my eyes?

… The broad purpose of prenatal genetic screening in a general population is to identify those patients whose off- spring are at high-risk for a genetic condition, affording them an opportunity to consider diagnostic testing and other appropriate follow-up and to facilitate informed decision- making in line with their personal goals and values. The incorporation of whole-genome sequencing (WGS) into pre- natal screening via cell-free DNA analysis has been the single biggest innovation in fetal genetic screening since aneuploidy screening was first introduced. Prenatal genetic screening is sure to undergo significant changes in the years and decades to come, with rapid improvements in the technological possibilities and reduced costs of genome sequencing.

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