Overview

Women and families deserve as much information as possible when considering and/or undergoing prenatal testing as an option. The issue of unregulated Noninvasive Prenatal Tests (NIPTs) for Down syndrome is a serious concern for the Down syndrome community. NIPTS are blood tests that examine placental DNA in the maternal bloodstream to determine whether a baby is at risk for a chromosomal condition such as Down syndrome. These screenings are not diagnostic and any findings need confirmation through further testing. Although they have been available since 2011, NIPTs are not regulated by the Food and Drug Administration (FDA) and there is concern that women are making life-changing decisions too early in a pregnancy based on these unregulated tests. No NIPT is 100% accurate, no matter who manufactures the test. With an FDA approval of an NIPT for Down syndrome, the family can rest assured they are receiving test results that are consistent in performance and information.

FDA Regulation

In October 2014, the FDA released a proposed oversight framework for Laboratory Developed Tests (LDTs), of which NIPTs are a subset. NDSS supports the FDA’s proposed oversight because of concerns that NIPTs on the market today are not regulated by the FDA, the gold standard of regulation in the United States. Instead, NIPTs are regulated by the Centers for Medicare and Medicaid Services’ (CMS) CLIA pathway. There have been identified problems with several high-risk LDTs, including NIPTs. These include:

  • Claims that are not adequately supported with evidence
  • Lack of appropriate controls yielding erroneous results
  • Falsification of data

NDSS is concerned that women are not being told that these tests are not regulated by the FDA, and are using the “results” as a diagnostic rather than as a screening that requires diagnostic testing to confirm any suggested findings. Further, these tests are not being coupled with the necessary and adequate genetic counseling that women and families require when going through screening and testing for Down syndrome.

NDSS urges the FDA to finalize its proposed regulations to establish an LDT regulatory oversight framework for a transparent approach to the existing and needed regulation of these LDTs for Down syndrome.

Accurate Education for Prenatal Screenings Act (HR 3441)

Legislatively, NDSS supports the Accurate Education for Prenatal Screenings Act (HR 3441). This legislation would complement an FDA oversight framework by requiring the Centers for Disease Control (CDC) to create and maintain education programs for patients and health care providers. Specifically, it requires that accurate and up-to-date information be provided to patients about the clinical features, prognoses treatments of Down syndrome and other conditions according to relevant national disability organizations and medical professional societies. These provisions also complement the Prenatally and Postnatally Diagnosed Conditions Awareness Act, signed into law in October 2008, and legislative efforts at the state level to require that accurate information about Down syndrome be provided to patients by their health care providers. This bill did not pass during the 114th Congress.