Early fetal echocardiography and increased nuchal translucency

Increased NT is associated with a spectrum of fetal abnormalities.
The commonest association is with chromosomal defects. In fetuses
with increased NT and a normal karyotype, the risk of an adverse
outcome remains and increases with increasing NT.

Best practice Key guidelines
(by Shanthi Sairam a,⁎, Julene S. Carvalho a,b,c,
** a Fetal Medicine Unit, St. George’s Hospital NHS Trust, Blackshaw Road, London SW17 0QT, United Kingdom
** b St. George’s University of London, United Kingdom
** c Royal Brompton Hospital NHS Foundation Trust, United Kingdom

Early fetal echocardiography and anomaly scan in fetuses with increased nuchal translucency
Early Human Development 88 (2012) 269–272)

  1. • There is clear evidence that pregnancies with increased fetal NT
    thickness and normal karyotype are at higher risk of adverse outcome, cardiac or otherwise.
  2. • Abnormalities affecting the cardiovascular system are the most
    common defects encountered in chromosomally normal fetuses
    with increased NT.
  3. • Importantly, when abnormalities of all other systems (extra-cardiac)
    are put together, the overall number of defects is higher than cardiac
    abnormalities alone.
  4. • Early fetal echocardiography and early anomaly scan should be
    considered in these fetuses.
  5. • Each fetal medicine unit should aim to design a management protocol which
    is evidence-based but also takes into account expertise and facilities available locally.
  6. • A simple protocol, with clear instructions to non-medical as well as
    medical staff regarding arrangements for follow up scans for pregnancies
    with increased NT and normal karyotype should be in place.
  7. • Patients need to be informed of the plan of follow up in their pregnancy
    for the increased NT and the need for several scans to rule out
    associated structural defects in the baby.
  8. • Patients also need to be informed, that in the presence of increased
    NT and a normal anomaly scan and fetal echo by 21–23 weeks,
    there is a 95% chance of a good outcome.
  9. • Patients need to be aware that in a small percentage of pregnancies
    (about 5%), some genetic or syndromic causes may be identified
    postnatally, even with normal findings in the antenatal scans.

6. Research directions

  1. • The role of three-dimensional and four-dimensional scan (STIC,
    spatio-temporal image correlation) in the presence of increased
    NT needs to be explored. Once a volume is acquired, this can be
    remotely accessed and analyzed and may address the problem of
    lack of expertise particularly with a view to making more technicians
    available to screen the fetal hearts at an early gestation.
  2. • All units need to audit their practices regularly in order to ensure
    that they are up to date with current recommendations and evidence and
    to ensure that they deliver the intended services.
  3. • Focus needs to shift from using the 11 to 14 week scan as a screening
    platform for just Down syndrome to using it as a screening platform for
    most structural defects.


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