Guidance

NIPT for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome

Published 1 July 2021

Applies to England

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This publication is available at https://www.gov.uk/government/publications/screening-for-downs-syndrome-edwards-syndrome-and-pataus-syndrome-nipt-summary-information/nipt-for-downs-syndrome-edwards-syndrome-and-pataus-syndrome

NIPT options

Women’s options if they choose to have screening. A text description of this pathway is also available.

Whatever results women get from any of these screening or diagnostic tests, they should be offered care and support in the decision that is right for them.

As part of the NHS screening pathway for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome, NIPT:

  • can be offered to women who have received a higher chance result from combined or quadruple screening
  • can be offered to women with single and twin pregnancies
  • might be less accurate in twin pregnancies
  • can be offered until 21+6 weeks of pregnancy
  • does not screen for other conditions or fetal sex
  • is not suitable for everyone

Find out more in the e-learning module.

Additional detail

Additional detail relating to points a to g on the flowchart.

a.

As part of the NHS screening pathway, NIPT is not suitable for women:

  • with triplet or higher order pregnancies
  • who currently have cancer, unless in remission
  • who have received a blood transfusion in previous 4 months
  • who have had bone marrow or organ transplants
  • who have had stem cell therapy
  • having immunotherapy in the current pregnancy
  • with a vanished twin pregnancy (an empty second pregnancy sac or a second pregnancy sac containing a non-viable fetus)
  • with Down’s syndrome, or a balanced translocation or mosaicism of Down’s syndrome, Edwards’ syndrome or Patau’s syndrome

b.

NIPT:

  • presents a potential delay of 2 weeks in the screening timeframe
  • gives a correct result for most women
  • can give false positive (higher-chance result when the baby does not have the condition) and false negative (lower-chance result when the baby does have the condition) results

c.

Depending on her choice, a woman could get:

  • separate results for all 3 conditions
  • one result for Down’s syndrome only
  • one result for Edwards’ syndrome and one result for Patau’s syndrome

Most women will receive their NIPT result within 2 weeks.

NIPT results will be reported as either higher or lower-chance.

d.

Most women who have NIPT will get a lower-chance result.

e.

Sometimes, NIPT will not produce a result.

f.

NIPT does not give a definite diagnosis.

g.

Prenatal diagnosis is required if the woman wants a definitive diagnosis following a higher-chance NIPT result.

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