A new age of prenatal testing for Down syndrome: a new name, new policy statements, and recognized resources for patients

American College of Medical Genetics and GenomicsInternational Society for Prenatal DiagnosisOn the same day, two major medical professional organizations announced their respective position statements concerning the newest form of prenatal testing for Down syndrome. There is A LOT to analyze, but here are some instant highlights from both. 

On April 4, 2013, both the American College of Genetics and Genomics (ACMG) and the International Society for Prenatal Diagnosis (ISPD) publicly made available their respective organization’s policy statements on the newest form of prenatal testing for Down syndrome. Here are the instant highlights:

  • A new name: what had been referred to as NIPT for “Non-Invasive Prenatal Testing” has been formally renamed. ISPD refers to the new testing offered by U.S. companies like Sequenom, Ariosa, Verinata, and Natera as “Maternal cfDNA,” meaning cell free DNA found in the mother’s blood stream. Note the removal of “fetal” from the traditional acronym of cffDNA. As I wrote previously, this is because most of the DNA tested is not, in fact, from the fetus. ACMG makes this point, stating that the tested material “is derived from the placenta.” ACMG provides the clearer acronym, referring to the new testing as NIPS for “Non-Invasive Prenatal Screening,” emphasizing that the new testing remains a screening test, not a diagnostic test.
  • Emphasis on counseling: both ACMG and ISPD emphasize the need for pre-test and post-test counseling. Previous guidelines were notably absent in discussing the need for patient counseling, or mentioned it almost as an afterthought. Instead, front-and-center in both of the new policy statements is an emphasis on the need to provide pretest counseling on the limitations of NIPS and post-test counseling on the need for confirmation of NIPS results through diagnostic testing.
  • A call for quality-control: what may be most surprising is that both organizations call for quality control and adherence to a set of laboratory standards. The ISPD is particularly notable in both its message and its messengers on this issue. From the ISPD position statement: “Although rapid progress is being made in the development and validation of this technology, demonstration that in actual clinical practice the testing is sufficiently accurate, has low failure rates and can be provided in a timely fashion has not yet been provided.” This is quite a statement, when it is appreciated that many of the authors of the ISPD position statement have an affiliation of some form with one of the NIPS testing laboratories. For this reason, the ISPD position statement should be seen as very persuasive as it is, in a certain sense, a statement against interest, i.e. it is against the interest of the companies seeking to expand NIPS usage to have individuals associated with their companies authoring a professional statement that cautions that the laboratories’ tests are still under clinical development and have not been shown in actual practice to be sufficiently accurate.
  • Recognized resources for patients: the ACMG statement is further noteworthy in providing recognized resources of accurate information about Down syndrome that should be provided to patients. The ACMG statement formally recognizes the Lettercase booklet and the Brighter Tomorrows website, along with the American Academy of Pediatrics’ health guidelines for individuals with Down syndrome, as THE resources that medical professionals should provide to their patients. Both Lettercase and Brighter Tomorrows had been recognized as approved resources by the National Society of Genetic Counselors. With the endorsement of the ACMG’s formal policy statement, medical professionals not only can be confident in providing these resources to their patients, but the policy statement instructs that they should provide these resources to their patients.

There is much more to be covered in these two policy statements, e.g. the ISPD’s word usage in describing the utility of the testing; the ACMG’s reference to the ethical principle of justice to recommend lowering the cost of NIPS; and what each organization recommends as the protocol to be offered to patients. These issues will be covered in subsequent posts, but, hopefully, this short list of highlights helps in summarizing these noteworthy professional statements on the new age of prenatal testing for Down syndrome.

UPDATE: I summarize the ISPD position statement on the optimal prenatal testing protocol for Down syndrome here.

UPDATE: This post addresses the “serious concern” ISPD has about the new prenatal testing for Down syndrome.

UPDATE: This post summarizes the ACMG position statement, noting how it distinguishes itself from the other professional societies’ positions on NIPS.

UPDATE: At this post, I pose some of the unanswered questions prompted by the statements made by the ISPD in its position statement.

Click on the links to access the full statements by ACMG and ISPD. What questions do you have about the new guidelines? What is your initial impression? 


  1. […] statements on the latest developments in prenatal testing for Down syndrome. I selected highlights here. In this post, I cover what the ISPD statement claims is “optimal” for prenatal testing […]

  2. […] mentioned in my post on the highlights of the new position statements how the ISPD listing of concerns can be given even greater weight […]

  3. […] the series of posts on the new International Society for Prenatal Diagnosis’s (ISPD) policy statement on prenatal […]

  4. […] need for quality controls with the NIPS laboratories–something that has been called for by every professional medical organization that has issued a statement on NIPS and by physicians in the New […]

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