Imaging in Pregnancy

This SIG has recently changed its name to include imaging modalities beyond fetal ultrasound, which is still the mainstay of prenatal imaging diagnosis. Activities focus predominantly on pre-congress courses, but the SIG also wishes to produce tools for clinical aid (systematic reviews, management algorithms) and to offer a forum for ongoing engagement between SIG members, and with other professionals involved in Prenatal Diagnosis, including those working in the laboratory and clinical settings.

SIG Mission Statement

To improve the knowledge and use of both established and innovative imaging techniques in prenatal diagnosis, and to increase the awareness of fetal imaging specialists (Maternal-fetal medicine specialists, radiologists and radiographers) in fetal dysmorphology.

SIG Topics of Discussion/Interest

  • Prenatal Dysmorphology of Genetic Syndromes
  • Detection of Congenital Anomalies
  • Ultrasound Markers of Aneuploidy
  • The Genetic Sonogram
  • Prenatal and postmortem MRI
  • Color and pulsed Doppler
  • New Ultrasound Technologies
  • First trimester screening
  • ltrasound-guided invasive diagnostic procedures

Stay Current with Imaging Updates from the Experts 

June, 2019

Hear a presentation from a prenatal diagnosis expert, free for charge, at a time that fits your busy schedule!

“Soft marker reporting with a normal NIPT?”
 “Does Nuchal Translucency Still Have a Role”
“Structural surveys for women with high BMIs”

The Imaging in Pregnancy SIG is providing ISPD members such a series and more over the coming months.

Members can access speaker recorded presentations online at their convenience.

Sharing knowledge through numerous channels promotes the society’s mission of advancing the science and practice of genetics and fetal care worldwide.  Please stay tuned for further information on this exciting project. 

Role of ultrasound in women who undergo cell free DNA screening

21 April 2017

Cheryl Albuquerque, MD, MBA, Valley Children’s Hospital, Madera, CA, USA
Larry Platt, MD, Center for Fetal Medicine and Women’s Ultrasound, Los Angeles, CA, USA

A multitude of tests are available today for prenatal screening. The introduction of cell free DNA screening (cfDNA) for aneuploidy has revolutionized prenatal testing in an era of value-based care. As with any medical test, expectations regarding its performance should be discussed with the patient before the test is ordered. While patients should be offered all relevant testing that is available, patients should have the option to decline any or all testing. It is the provider’s task, however, to make sure that patients understand the benefits and risks of the tests.

cfDNA screening broadens available prenatal testing for women by offering
  1. An alternative to invasive diagnostic testing for women with screen positive fetuses with high sensitivity and specificity for Trisomy 21 and Trisomy 18 (Trisomy 13 performance is somewhat poorer comparatively).
  2. Potential reassurance to women for whom invasive diagnostic testing is not an acceptable option.
  3. Elimination of procedure-related risks, making women less likely to decline further assessment after a high risk result from another form of screening.
With the increasing use of cfDNA screening, the question has arisen about the value of first trimester ultrasound evaluation in patients who have chosen cfDNA screening instead of traditional aneuploidy screening. In addition to screening for aneuploidy, first trimester ultrasound is utilized to estimate gestational age, to confirm cardiac activity, diagnose or evaluate multiple gestations, evaluate a suspected ectopic pregnancy, evaluate vaginal bleeding, evaluate maternal pelvic or adnexal masses or uterine abnormalities, to evaluate suspected hydatidiform mole, and to evaluate causes of pelvic pain. The first trimester ultrasound examination can assess for certain fetal anomalies such as anencephaly, cystic hygroma, and other structural anomalies. A recent systematic review estimated that approximately half of all structural abnormalities are detectable in first trimester, affording women earlier detection and an early opportunity for diagnostic testing (Karim et al 2016. In this review, it was noted that detection rates were significantly improved by the use of a structured anatomical protocol. Due to the constantly evolving nature of prenatal screening and the role of ultrasound, the Society for Maternal Fetal Medicine has recently issued a statement on “The role of ultrasound in women who undergo cell –free DNA screening." 

Read more on →

Prenatal Imaging Following Zika Exposure

With a clear link to microcephaly established, international health care agencies now recommend serial ultrasounds for women with positive Zika testing.

World Health Organization
Centers for Disease Control and Prevention (CDC)
Pan American Health Organization (PAHO)
European Centre for Disease Prevention and Control (ECDC)
Public Health England

Detailed imaging guidelines are available from the International Society of Ultrasound in Obstetrics and Gynecology and highlight a balance of measurements, specific intracranial findings, detection of other abnormalities and local resources including the availability of ultrasound imaging. Amniocentesis for Zika viral detection is considered with extrapolation from other viral teratogens such as cytomegalovirus infections.

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Ultrasound changes, often in the CNS, can appear later in pregnancy after initial early images without concern. Ultrasound remains the modality for imaging surveillance. For some affected fetuses, head circumference is maintained, but CNS damage is evident supporting the need for detailed intracranial evaluations in addition measurements. A new study from Brazil utilizing ultrasound and subsequent CT/MRI offers further delineation of the pattern of CNS changes including enlarged ventricles, abnormalities of the corpus callosum, brainstem abnormalities and calcification in the transition zone between the white and gray matter. The latter appears to be unique to Zika.

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As with all aspects of Zika infection, from absolute risk, confounders of risk, testing methods to treatment, the discrete imaging patterns are emerging as the pandemic evolves. First trimester exposure is likely to result in the greatest risk; although potential damage especially to the CNS can occur following exposure at all trimesters. Hydrops, genital hypoplasia, multiple pteygium, placental signs of inflammation (thickening, calcifications) and growth restriction have all been noted.

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Long-term studies will be essential to evaluate the outcomes of exposed infants. For all infants with Zika exposure, it is critical to gain knowledge about this emerging infectious teratogen. International efforts is needed and we encourage you to participate.

Read more →


SIG Leadership

Co-Chair: Cheryl Albuquerque, MD, MBA

Co-Chair:  Luc De Catte, MD, PhD

Board Liaison: Monique Haak, MD, PhD

SIG Roster

Meeting Minutes

9 July 2018 - Antwerp, Belgium
12 July 2016 - SIGs and Education Committee - Berlin, Germany
13 July 2015 - Washington, DC USA
23 July 2014 - Brisbane, Australia
05 June 2013 - Lisbon, Portugal
06 June 2012 - Miami, Florida, USA
14 July 2010 - Amsterdam, Netherlands
04 June 2008 - Vancouver, Canada