4 Topic Commentaries

What's Next for Prenatal Screening?

What's Next for Prenatal Screening?

• 

  Yair Blumenfeld, MD

  Obstetrics and Gynecology (Maternal–Fetal Medicine)

  •

  Stanford University School of Medicine

  Three years ago we were very excited about successfully validating non-invasive fetal aneuploidy detection. But we always knew that detecting fetal chromosomal abnormalities was just the tip of the iceberg, and that diagnosing individual gene defects was the future. This important study confirms our ability to detect individual fetal gene defects simply by testing mom's blood.

  Source
• 

  Jay Shendure, MD, PhD

  Genomics / Genome Sciences

  •

  University of Washington

  This work opens up the possibility that we will be able to scan the whole genome of the fetus for more than 3,000 single-gene disorders through a single, non-invasive test.

  Source
• 

  Arthur L. Beaudet, MD

  Medical Genetics

  •

  Baylor College of Medicine

  At present the test only focuses on abnormalities that are 2 to 3 million base pairs in size, but future versions of the test should allow sequencing the entire exome or genome of multiple fetal cells.

  Source
• 

  Matt J. Elrick, MD, PhD

  Pediatric Neurology / Neuromuscular Disorders

  •

  Johns Hopkins University School of Medicine

  Potentially, with sequencing the entire genome, the whole panel will be supplanted with genetic testing. The question is: Does it make sense to push it to a prenatal test — and is that feasible?

  Source