Expanded Carrier Screening

Prenatal genetic screening can offer soon-to-be parents and those considering parenthood information about the chance of passing on certain conditions to their child, allowing women and their partners to make informed decisions about planning their family, pregnancy management, and future child-rearing. A variety of tools and methods are available for prenatal screenings — all with a goal of gaining insight into the potential outcome of certain genetic conditions.

Expanded Carrier Screening (ECS) allows individuals to assess the chance of having a child with certain inherited genetic conditions prior to conception or during pregnancy. It can determine the carrier status of reproductive partners for some recessive and/or X-linked genetic conditions that can be inherited by their children, such as Tay-Sachs, cystic fibrosis, and sickle cell disease.

Expanded Carrier Screening is part of the SWHR Maternal Health Network, which engages the following focus areas: Expanded Carrier Screening, Fertility, Maternal & Infant Health Disparities, and Noninvasive Prenatal Screening.

Program Goals

  • Address the impact of ECS on maternal and infant health
  • Review the science and health care landscape concerning genetic screening and explore the best means to develop clinical guidelines and strategies for increased implementation of ECS
  • Identify opportunities to leverage innovation and increase access and improve health equity for genetic screening
  • Promote science-based health care policies around genetic screening to reduce disparities and improve maternal and infant health outcomes
  • Develop materials to expand education and raise awareness about prenatal genetic screening among women, health care providers, and policy stakeholders

Facts about Expanded Carrier Screening


recessive genetic diseases can be detected using ECS


of cystic fibrosis cases occur in women

1 in 300-500

African American newborns have some form of sickle cell disease

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