--- title: "Poster: Towards Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) using cell-free DNA" description: Invasive fetal sampling is currently the only way to comprehensively test genomic material for single gene disorders, for example using exome sequencing. image: https://blog.congenica.com/hubfs/Cell-Free-DNA-Screenshot.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) [Poster: Towards Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) using cell-free DNA](https://blog.congenica.com/2019/09/17/towards-improved-next-generation-sequencing-for-ultrasound-abnormalities-using-cell-free-dna) ![Poster: Towards Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) using cell-free DNA](https://blog.congenica.com/hubfs/Cell-Free-DNA-Screenshot.png) Blog # Poster: Towards Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) using cell-free DNA 9/17/2019    |    0 min read Invasive fetal sampling is currently the only way to comprehensively test genomic material for single gene disorders, for example using exome sequencing. These procedures are associated with a risk of miscarriage (~1%). Non-invasive methods testing cell-free fetal DNA exist for common aneuploidy and a handful of single gene disorders, but prenatal genotype-phenotype knowledge is constantly expanding, and it would therefore be beneficial to be able to comprehensively, non-invasively test pregnancies affected by ultrasound detected abnormalities. Congenica has developed an extensive test (INGENIOUS) for the non-invasive detection of disease-causing variants associated with fetal anomalies which arise de novo (Around two-thirds of fetal abnormalities, after normal microarray). We show 100% clinical sensitivity to date, with improved filtering reducing the number of putative de novo variants for review. You can view the results of the analysis by downloading the poster below. The poster *['Towards Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) using cell-free DNA'](https://blog.congenica.com/hubfs/Poster-Towards-INGENIOUS-Using-Cell-Free-DNA.pdf)* was presented at the [International Conference on Prenatal Diagnosis](https://www.ispdhome.org/ISPD2019) and Therapy on 9 September 2019. Presented by: Dr Suzanne Drury, Clinical Genomics and Personalised Medicine Specialist at Congenica [![DOWNLOAD POSTER](https://no-cache.hubspot.com/cta/default/6863388/177e4d84-120e-4ddf-84e5-4909d8bd58cc.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/177e4d84-120e-4ddf-84e5-4909d8bd58cc) --- ### 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. In all other countries, ensuring compliance with relevant local, national and international clinical laboratory regulations is the responsibility of the laboratory. - [Privacy Policy](http://www.congenica.com/privacy-policy) - [Cookie Policy](http://www.congenica.com/cookie-policy) Log in to Congenica ##### 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/) ![CE](https://blog.congenica.com/hs-fs/hubfs/CE.png?width=80&height=80&name=CE.png) ![ISO-27001](https://blog.congenica.com/hs-fs/hubfs/ISO-27001.jpg?width=80&height=80&name=ISO-27001.jpg) ![TR-Testmark_9000030872_EN_2024_CMYK](https://blog.congenica.com/hs-fs/hubfs/2023%20website%20images/TR-Testmark_9000030872_EN_2024_CMYK.png?width=80&height=80&name=TR-Testmark_9000030872_EN_2024_CMYK.png) ![HIPAA Compliant](https://blog.congenica.com/hs-fs/hubfs/HIPAA%20Compliant.png?width=80&height=80&name=HIPAA%20Compliant.png) Copyright © 2026 Congenica Ltd. Company number: 8273616 Registered in England and Wales.