--- title: Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) description: At the Curating the Clinical Genome event in May 2021, Suzanne Drury, Lead  Transitional Scientist, Prenatal Genomics and Personalized Health at Congenica presented a poster that detailed non-invasive prenatal solutions for multiple single gene disorders in a single test - Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS).  image: https://blog.congenica.com/hubfs/Canva%20images/Curating%20the%20Clinical%20Genome.png --- - [Our Customers and Partners](http://www.congenica.com/our-customers) - [Our Product Portfolio](http://www.congenica.com/congenica-products) - **Inherited Diseases** - [Rare Disease](http://www.congenica.com/congenica-rare-disease) - [Inherited Cancer](http://www.congenica.com/congenica-inherited-cancer) - [Prenatal Health](http://www.congenica.com/congenica-prenatal) - [Carrier Screening](http://www.congenica.com/congenica-carrier-screening) - [Neurodevelopmental Disorders](http://www.congenica.com/congenica-neuro) - **Somatic Oncology** - [Solid Tumours](http://www.congenica.com/congenica-oncology) - **Pathogen** - [Pathogen Surveillance](http://www.congenica.com/congenica-pathogen-surveillance) - [Our Services](http://www.congenica.com/congenica-services) - [Clinical Interpretation Services](http://www.congenica.com/congenica-clinical-interpretation-services) - [Professional Services](http://www.congenica.com/professional-services) - [Customer Support](http://www.congenica.com/customer-support) - [Pharma Services](http://www.congenica.com/pharma-services) - Resources - [Publications](http://www.congenica.com/publications) - [Supporting materials](http://www.congenica.com/resources) - [News](https://blog.congenica.com/) - [Events and webinars](http://www.congenica.com/events-webinars) - [About us](http://www.congenica.com) - [Leadership Team](http://www.congenica.com/leadership) - [Quality](http://www.congenica.com/quality) - [Investors](http://www.congenica.com/investors) - [People and Vacancies](http://www.congenica.com/people) - [Contact us](http://www.congenica.com/contact) Login ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) [Overview](https://blog.congenica.com) [Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS)](https://blog.congenica.com/improved-next-generation-sequencing-for-ultrasound-abnormalities) ![Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS)](https://blog.congenica.com/hubfs/Canva%20images/Curating%20the%20Clinical%20Genome.png) Blog poster prenatal INGENIOUS NGS # Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) 5/17/2021    |    0 min read At the Curating the Clinical Genome event in May 2021, Suzanne Drury, Lead Transitional Scientist, Prenatal Genomics and Personalized Health at Congenica, presented a poster that detailed non-invasive prenatal solutions for multiple single gene disorders in a single test - Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS).  [![suzanne drury ngps](https://blog.congenica.com/hs-fs/hubfs/suzanne%20drury%20ngps.png?width=618&name=suzanne%20drury%20ngps.png)](https://blog.congenica.com/hubfs/Drury_Suzanne_NGPS_ISPD_2021-2.pdf) ## **Introduction**  Fetal anomalies are detected in ~3% of pregnancies and are responsible for ~20% of perinatal deaths. Approximately two-thirds of single gene causes of fetal anomalies are *de novo* mutations (DNMs). Advances in genomic technology have led to rapid adoption of non-invasive prenatal testing for aneuploidy, but tools to support non-invasive diagnosis of single gene disorders are limited.     Our objective was to develop a comprehensive assay and analytical pipeline to pair with the Congenica clinical decision support platform, to enable non-invasive detection of *de novo* mutations associated with fetal anomalies.    ## **The INGENIOUS gene panel detects causative de novo variants in cfDNA**  Cases from 73 quads with gestation range 10+6 to 36+4 were assessed and had a median fetal fraction of 12% (range 3-38%). In total 17 *de novo* variants were identified and 16/17 (94%) were detected in the non-invasive sample. Six of these variants were confirmed to be pathogenic and 100% (6/6) were correctly identified in cfDNA. A median of 1 putative *de novo* variant per case was identified (mode 0, range 0-8).    [![Download the poster ](https://no-cache.hubspot.com/cta/default/6863388/dd33683c-3fba-47b6-8b05-6441f4c5440f.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/dd33683c-3fba-47b6-8b05-6441f4c5440f)   ## Other recent posters presented by Congenica include:  [Skeletal Dysplasia](https://blog.congenica.com/exome-analysis-of-prenatal-and-postnatal-cases-referred-with-skeletal-dysplasia-an-overview-of-genomic-and-phenotypic-findings)  [Automated variant classification ](https://blog.congenica.com/automated-variant-classification-workflows-maintain-quality-standards-support-standardisation-and-reduce-turn-around-times-in-a-rare-disease-laboratory)   --- ### Related articles ![The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients](https://blog.congenica.com/hs-fs/hubfs/Untitled%20design%20(8).png?width=320&height=192&name=Untitled%20design%20(8).png) 2/24/2023 #### [The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients](https://blog.congenica.com/the-road-to-diagnosis-how-genetics-transforms-the-lives-of-rare-disease-patients) In recognition of Rare Disease Day, Congenica looks at the importance of a genetic diagnosis for patients and asks, what's next for rare disease? ![What’s it like to be a woman working in science?](https://blog.congenica.com/hs-fs/hubfs/Since%202016%2c%20the%20number%20of%20women%20working%20in%20STEM%20fields%20in%20the%20UK%20has%20increased%20by%20216%2c552%2c%20taking%20the%20total%20number%20over%20the%201%20million%20mark%20for%20the%20first%20time.%20Women%20now%20make%20up%2024%25%20of%20the%20STEM%20workforce%20i%20(2).png?width=320&height=192&name=Since%202016%2c%20the%20number%20of%20women%20working%20in%20STEM%20fields%20in%20the%20UK%20has%20increased%20by%20216%2c552%2c%20taking%20the%20total%20number%20over%20the%201%20million%20mark%20for%20the%20first%20time.%20Women%20now%20make%20up%2024%25%20of%20the%20STEM%20workforce%20i%20(2).png) 2/10/2023 #### [What’s it like to be a woman working in science?](https://blog.congenica.com/whats-it-like-to-be-a-woman-working-in-science) For International Day of Women and Girls in Science, we talk to three women at Congenica about their experiences of working in STEM. ![Professor Matthew Hurles discusses the Deciphering Developmental Disorders study](https://blog.congenica.com/hs-fs/hubfs/Deciphering%20Developmental%20Disorders%20(1)-1.png?width=320&height=192&name=Deciphering%20Developmental%20Disorders%20(1)-1.png) 2/8/2023 #### [Professor Matthew Hurles discusses the Deciphering Developmental Disorders study](https://blog.congenica.com/professor-matthew-hurles-discusses-the-deciphering-developmental-disorders-study) Professor Matthew Hurles, project lead for DDD study and Congenica founder, discsuses his projects, advancements in data analysis and interpretation ##### Congenica is available as a CE Marked IVD clinical decision support platform for clinical diagnostic use for inherited genetic disorders in the UK and EU, Iceland, Lichtenstein, Norway, Switzerland and Turkey. 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