Prenatal and newborn genetic screening has become ubiquitous in the past two decades. By law, In the state of New Jersey, all infants are screened for single gene disorders within the first 48 hours of their life, and most hospitals offer prenatal testing and genetic counseling to all pregnant patients. Advances in noninvasive prenatal testing (NIPT) now allow physicians to screen for more than just aneuploidies early in pregnancy (eg. single gene variants, copy number variations) with very little risk. With advances in technology come a host of ethical questions:

• To what extent does prenatal screening reinforce genetic determinism?
• How do we communicate risk to the general public?
• Is it still ethical to allow prenatal testing in states where abortion is banned?
• Is there an ethical difference between preimplantation genetic testing for IVF and NIPT?
• In addition to the legally required disorders (eg. hemoglobinopathies, metabolic disorders, lysosomal storage disorders), what should we screen for?
• How will expanded access to genetic screening in the US affect health disparities globally?

Readings:

• Advantages of expanded universal carrier screening: what is at stake?
• The Last Children of Down Syndrome
• High-Resolution and Noninvasive Fetal Exome Screening
• Carrier Screening

For questions, please contact Ezra Levy or Madeleine Chalifoux.