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Prenatal tests for genetic screening and diagnosing: Changes, choices, challenges

5 minutes

Published: March 2019

The information in this article was correct at the time of publishing

Advances in technology have led to substantial changes in the prenatal tests physicians can use to screen and diagnose pregnant patients for genetic abnormalities. New tests are being introduced and conventional tests are being improved—and all have unique benefits and limitations. As tests grow more sophisticated, patients need guidance in navigating the complex information so they can make informed choices about the future of their pregnancy.1

For physicians who treat pregnant patients, being aware of the developments in tests and the current standards of practice, communicating effectively with patients and obtaining informed consent, and documenting treatments and discussions can contribute to achieving the best possible outcomes for all involved.

Advances in prenatal tests

The new prenatal tests and the upgraded existing tests come with a variety of advantages and restrictions. For example, some tests are viewed as more accurate than others. Some can be used earlier in the pregnancy than others. Some carry greater risks. Moreover, some are funded by healthcare systems, while others are not.

Non-invasive prenatal testing (NIPT), for instance, is a newer screening tool used to detect Down syndrome and other genetic abnormalities. Its benefits include being non-invasive, highly accurate, and available for use “...at a relatively early point during pregnancy.”2 However, NIPT is regarded as a screening test and not a diagnostic test.3

Meeting the standards of prenatal testing

Whether you are an obstetrician, a family physician with a specialty in obstetrics, or a family physician with an interest in or a need to be involved in obstetrics, the courts expect you to provide prenatal care that meets the current standards of practice. That would typically include being knowledgeable of developments in prenatal tests, both screening and diagnostic, and the nature, uses, advantages, restrictions, accuracy, risks, and availability of the tests.

Communicating with patients, obtaining informed consent

Patients need to be given sufficient and accurate information so they can make informed decisions about the future of their pregnancy.2 The information they need will depend on their individual needs and circumstances. Some may decide to forego prenatal tests altogether, knowing that whatever the findings they would continue with the pregnancy. Others may decide to undergo a limited number of tests, while others may seek out all available tests to decide what course of treatment is appropriate for them.

Patients also need complete information about proposed tests or treatments, so when they provide or refuse consent, it is informed.4 Among the information you should consider providing to patients is the tests that are available, their benefits, limitations, accuracy, risks, possible outcomes, time constraints, and reasonably available alternatives. You should also consider giving information on the options available should test results indicate an abnormality. In addition, patients should be made aware of the availability of genetic counselling services.

Failing to provide patients, in a timely fashion, with information and advice about prenatal tests or a referral to another provider can have a potentially life-long impact. For instance, some patients may decide that they would rather end a pregnancy than give birth to a child with a chromosomal abnormality. If a screening or diagnostic prenatal test that may have predicted such a problem is not offered or not offered within a specific time frame and the result is a baby born with an abnormality, the parents may consider legal action alleging that the physician failed to offer testing within sufficient time to consider aborting the pregnancy. In this situation, the courts will look to several legal principles to guide its examination of the physician’s conduct, including whether the care followed the prenatal testing standard of care at the time of the pregnancy.

Speaking with patients about the intricacies of prenatal tests can be challenging because the language surrounding the tests can be unfamiliar and continually evolving. You should try to provide the information as clearly and simply as possible, and avoid jargon. Ensure patients understand the information and have an opportunity to ask questions. It may be helpful to investigate the material some organizations have written specifically for patients, such as that on the SOGC website, www.pregnancyinfo.ca.5

You may also want to consider organizing the material about the tests using structured communication and documentation tools. Some ministries of health have produced documents that can may be helpful in providing structure. For instance, the Ontario Ministry of Health has produced the document: A User Guide to the Ontario Perinatal Record [PDF].6

Further, when a test or treatment is beyond your competence or experience, you have a duty to refer patients to a more appropriate provider, for example to an obstetrician or genetic specialist. You may want to manage these referrals closely as time is an important factor. Some tests must be performed within set time frames to give patients the greatest number of options in deciding the future of their pregnancy.

Documenting in the medical record

The details of the informed consent discussion should be documented in the patient’s medical record including the information you provided, questions asked and the answers provided, and the agreed-on plan for prenatal testing.

As well, documentation in the record may form part of your tracking system for prenatal tests. Given the importance of having some tests performed within specific time limits to allow patients more decision options, you may want to record what tests were performed and when, what results were obtained and when, further test options available, and the agreed-on next steps.

The bottom line

With advances in genetic technology, the options for prenatal tests (both for screening and diagnosing) have grown in number and sophistication. To improve testing outcomes for patients and reduce your medical-legal risk, consider the following:

  • Be aware of the current developments in testing and the current standards of practice with respect to tests that should be offered to pregnant patients.
  • Give patients the information they need, when they need it, to make informed decisions about the future of their pregnancy.
  • Document in the medical record all discussions with patients and the treatments agreed on.




  1. Van den Veyver IB. Recent advances in prenatal genetic screening and testing. F1000Research 2016;5(F1000 Faculty Rev):2591
  2. Towes M, Caulfield T. Physician liability and non-invasive prenatal testing. J Obstet Gynaecol Can 2014;36(10):907-914
  3. Carroll JC, Morrison S. Untangling the Helix 2017: Prenatal genetics for primary care providers [Internet]. Proceedings of the 2017 Family Medicine Forum; 9 Nov 2017 [cited 2018 Dec 3]. Montreal, Canada. Available from: www.geneticseducation.ca
  4. Canadian Medical Protective Association [Internet]. When consent is informed. Ottawa (CA):CMPA;2016 May [cited 2018 Nov 30]. Available from: https://www.cmpa-acpm.ca/en/advice-publications/cmpa-perspective/2015/when-consent-is-informed
  5. PregnancyInfo.ca [Internet]. Ottawa (CA):Society of Obstetricians and Gynaecologists of Canada;2018 [cited 2018 Dec. 3]. Available from: https://PregnancyInfo.ca/
  6. Ontario Provincial Council for Maternal and Child Health (PCMCH) and The Better Outcomes Registry and Network (BORN) Ontario Perinatal Record Working Group [Internet]. A User Guide to the Ontario Perinatal Record. 2018 August [cited 2018 Dec. 3]. Available from: http://www.pcmch.on.ca/wp-content/uploads/2018/08/OPR_UserGuide_2018Update_Final_18-08-22.pdf

DISCLAIMER: The information contained in this learning material is for general educational purposes only and is not intended to provide specific professional medical or legal advice, nor to constitute a "standard of care" for Canadian healthcare professionals. The use of CMPA learning resources is subject to the foregoing as well as the CMPA's Terms of Use.