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Supporting women and their partners through prenatal screening for Down's syndrome, Edwards' syndrome and Patau's syndrome

Published: 02/12/2020

Consensus statement on pregnancy screening from the Royal College of Obstetricians and Gynaecologists, Royal College of Midwives, Society and College of Radiographers

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Screening tests are offered to all women in pregnancy so that those women who want to know before birth, can choose to find out if their baby has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome. The tests can help women and their partners make informed choices about further diagnostic tests. This can lead to a decision about whether they want to continue or end the pregnancy. All screening tests offered by the NHS are free.

Non-invasive prenatal testing (NIPT) is a more accurate screening test than the combined or quadruple test that is due to be rolled out on the NHS in England over the next few years. NIPT is blood test taken from a pregnant woman to assess the chance of the baby having Down's syndrome, Edwards’ syndrome and Patau’s syndrome.

In 2016 the UK National Screening Committee (UKNSC) recommended an evaluative roll out of NIPT into the existing screening pathway for these three conditions, as part of the NHS Screening programme in England. NIPT has been available privately since 2012, and also in some NHS Trusts. It has been available on the NHS in Wales since 2018 and Scotland have recently commissioned their NIPT service.

From Spring 2021, NIPT will be offered as an additional option, for women in England who have a higher chance (1 in 2 to 1 in 150) of having a baby with Down's syndrome, Edwards’ syndrome or Patau’s syndrome, following combined or quadruple screening in single and twin pregnancies.

NIPT is not a diagnostic test, and women and their partners with a higher chance NIPT result who wish to know for sure if their baby has, or does not have, one of the conditions, can choose to have further prenatal diagnostic tests, such as an amniocentesis or chorionic villus sampling (CVS) to confirm the result.

During the preparation for the evaluative roll out of NIPT, the Public Health England (PHE) screening team worked with external stakeholders including relevant charities, support organisations, academics and clinical experts to develop evidence based education and information for the public and health professionals about the new screening test.

This statement applies to the NHS screening pathway but the messages are also relevant to healthcare professionals offering NIPT in private clinics and hospitals.

Important messages for medical professionals

Below are important messages for obstetricians, midwives, sonographers, and all medical professionals involved in the offer of prenatal screening in both NHS and private provider settings.

As with current screening, an opportunity to access up-to-date information about the test and a discussion with a health professional before and after having NIPT is recommended – particularly if the women has a higher chance result. The introduction of NIPT provides an important opportunity to improve the information and support women and their partners have to make informed choices.

Pre-screening and screening

  • NIPT should always be offered by skilled healthcare professionals to make sure that the appropriate information and support is available, both about the test itself and the conditions being screened for.
  • All staff should be trained to explain and discuss the associated performance, benefits and limitations of NIPT and the screened for conditions within the NHS screening pathway.
  • Staff should undertake the education and training package developed by the PHE screening team.
  • Staff should make sure that pregnant women and their partners have access to the information booklet "Screening tests for you and your baby" before a discussion with an appropriately trained health professional to help them make an informed choice as to whether they wish to accept the offer of screening or not.

Results and diagnosis

  • Women and their partners should be given the NIPT results and what they mean in a non-directive way, made aware of all their options and given time to decide on their next steps.
  • Women and their partners with a higher chance NIPT result who wish to know for sure if their baby has a one of the conditions can choose to have an amniocentesis or CVS.
  • The offer of further tests should be non-directive and accompanied by information about the tests and the associated risks to enable women to make a personal informed choice.
  • Healthcare professionals should ensure impartial support is available to women and their partners who receive a higher chance NIPT result.
  • To aid their decision making process and to support their personal informed choice, women and their partners should be signposted to relevant charities and organisations (listed below).
  • Women and their partners who opt for a diagnostic test following a higher chance NIPT result should be made aware of the choices they have to either continue or terminate the pregnancy if a diagnosis is received. These options should be provided in a non-directive manner and theirchoices should be accepted, noted and respected by the medical staff.
  • Some women who would want to avoid a diagnostic test and/or would continue a pregnancy with a positive diagnosis may still value the information an NIPT test can give them. This is a valid choice and must be respected.
  • Some women and their partners with a higher chance NIPT result will not want an amniocentesis or CVS because of the risk of miscarriage or other reasons. They should be signposted to additional support and information about continuing their pregnancy, and receive the enhanced scans and support that a confirmed diagnosis pregnancy would warrant.
  • Good documentation is essential so that the parent’s informed decision on whether to undergo further testing or not, and the decision to continue their pregnancy or not, is properly recorded.

Some parents whose babies have been identified as having a higher chance of Down’s syndrome, Edwards’ syndrome or Patau’s syndrome, and who have decided to continue with the pregnancy, have reported being asked repeatedly if they want further diagnostic tests or an abortion.

They report having their decisions challenged and being pressured into changing their minds. This should not happen.

Parents should have the scope to change their minds, but not be pressured into doing so – their decisions should be accepted and respected at all times.

Background and context

The evidence suggests that offering NIPT as a contingent screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome may reduce the number of women having prenatal diagnostic tests which carry a risk of miscarriage. The UK NSC review estimates that this could reduce the number of miscarriages related to the diagnostic tests (amniocentesis or CVS) from 46 to approximately three per year.

The evaluative roll-out will take place over a three-year period and will review:

  • The impact NIPT has on the decisions women and their partners make about screening
  • The performance of the tests
  • How often ‘no result’ occurs from NIPT
  • The time taken for women to receive results

Education and training

A range of stakeholders were instrumental in supporting the PHE screening team to develop and deliver a standardised education and training programme for introducing NIPT into the NHS in England, which helped to address the recommendations made by the Nuffield Council on Bioethics. This included the delivery of eight regional 2-day training events and provision of cascade training resources for local use, in collaboration with the Down’s Syndrome Association, the Down’s Syndrome Research Foundation, the Support Organisation for Trisomy 13/18 (SOFT) and Antenatal Results and Choices.

The face-to-face training events were attended by over 400 identified NIPT ‘champions’, and all NHS Trusts in England that offer screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome were represented.

NIPT champions, who include screening midwives, community midwives, obstetricians, sonographers, and fetal medicine practitioners, are responsible for making sure all relevant colleagues in their Trust complete training in preparation for the commencement of the NIPT roll out.

The NIPT cascade training resource has now been retired and replaced by a new e-learning resource. This was published in October 2020 and is freely available on the Health Education for England e-Learning for Healthcare (eLfH) platform.

This e-learning resource contains all the essential elements of the previously available NIPT cascade package and updates from the UK NSC 2019 external review. Healthcare professionals who offer screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome, but who have not completed the previously available NIPT cascade training, need to complete the full version of the new e-learning.

A short version of the e-learning resource is available in the same location, and recommended for those healthcare professionals who have already completed the NIPT cascade training package.

Information for parents

In collaboration with the external stakeholders listed above, the PHE screening team has produced a new information resource for women and their partners who receive a higher chance result following combined or quadruple screening. This will be published prior to the commencement of the evaluative rollout and outlines:

  • Additional information about all 3 conditions
  • Choices following a higher chance result from combined or quadruple screening
  • What NIPT is and how it works
  • NIPT performance, including benefits of introducing NIPT into the existing pathway, and limitations
  • The meaning of NIPT results
  • Choices following a higher chance result from NIPT

Information and support for women and their families with a higher chance result or prenatal diagnosis of Down’s syndrome, Edwards’ syndrome or Patau’s syndrome is available from:

Clinical guidance

The RCOG has recognised the need for high quality guidance to ensure women are supported to make the choices that are right for them and their families. A Green-top guideline on NIPT is in development, as well as a Good Practice Paper that will outline the care and support to be provided to women who choose to continue with a pregnancy following a diagnosis of Down's syndrome, Edwards’ syndrome and Patau’s syndrome. This guidance is being produced jointly with British Maternal and Fetal Medicine Society and the estimated publication is 2021.

The guidance will cover the care of women through antenatal screening and further diagnostic testing, if opted for. It will include:

  • The responsibilities of healthcare professionals to provide tests that are known to be accurate to a level that is appropriate to the condition being tested for
  • The provision of accurate, balanced and non-directive information about NIPT and the tested-for conditions
  • Giving results in a way to help parents understand their options
  • Dealing with unanticipated or secondary findings and failed tests