A synergistic approach to prenatal screening

Cell-free DNA Analysis and First Trimester Ultrasound

The first trimester presents a unique window of opportunity to evaluate for fetal anomalies.  Advances in ultrasound technology and maternal blood analysis via cell-free DNA (cfDNA) testing have allowed for improved first trimester (FT) evaluation for serious fetal anomalies and more accurate screening for chromosomal conditions compared to first trimester combined screening (FTCS).1

The Voluson ultrasound and Harmony® prenatal test are science-backed technologies that complement one another and enable focused and efficient guidance for maternal and fetal care. 

 

Hear what these maternal-fetal medicine key opinion leaders (KOLs) have to say about NIPT + Ultrasound

KOLs from around the world came together at the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) meeting in 2019. Hear what these KOLs have to say about the combined value of ultrasound and NIPT in this exclusive interview.

Watch the video >>

 

 

 

Benefits of screening with Voluson ultrasound and the Harmony test2

  • Excellent detection of rare and common trisomies as well as fetal structural abnormalities 
  • Low false-positive rates, leading to a reduction in unnecessary anxiety and follow-up testing 
  • Less complicated protocol than the contingent screening model, with almost all patients getting clear results from the first blood draw
 

 

Empowering exceptional maternal-fetal care with NIPT + Ultrasound

The Harmony prenatal test has demonstrated superiority to first trimester combined screening (FTCS) for trisomy 21 with a significantly lower false-positive rate and higher detection rate across age categories.3

However, cfDNA testing should not replace the first trimester (FT) ultrasound evaluation of a fetus but should complement it. FT ultrasound allows the detection of fetal anomalies that can be in isolation or with maternal/fetal genetic disease.4 Identification of ultrasound anomalies can guide pregnancy management, allowing you to provide the highest level of prenatal care to patients.

Learn how you can gain accurate insights with the combined use of NIPT and ultrasound in first-trimester screening.

Download the white paper

 

Early screening and diagnosis of 22q11.2 deletion can help guide pregnancy management

 


22q11.2 deletion is the most common chromosomal microdeletion5, occurring in as many as 1 in 1000 pregnancies6. First-trimester identification of at-risk pregnancies enables early confirmatory testing and can direct pregnancy management toward optimized care.

Strategic use of targeted cell-free DNA analysis and detailed ultrasound can enable early identification of fetuses at risk and allow informed management for improved outcomes.  

Dr. Rabih Chaoui from the Center for Prenatal Diagnosis and Human Genetics in Berlin, Germany explains how combined ultrasound and cfDNA screening can be used to screen for 22q11.2 microdeletion.  

View the webinar >>

 

 

  1. Kagan et al. Ultrasound Obstet Gynecol. 2018 Apr;51
  2. Kagan et al. Arch Gynecol Obstet. 2016;294(2):219-224
  3. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97 
  4. Salomon et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):102-13
  5. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23
  6. Grati et al. Prenat Diagn. 2015 Aug;35(8):801-9.

Harmony is a non-invasive prenatal test (NIPT) based on cell-free DNA analysis and is considered a prenatal screening test, not a diagnostic test. Harmony does not screen for potential chromosomal or genetic conditions other than those expressly identified in this document. All women should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. The Harmony Prenatal Test was developed, and its performance characteristics determined by Ariosa Diagnostics, a CLIA and CAP-accredited clinical laboratory in San Jose, CA USA. This testing service has not been cleared or approved by the US FDA.

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