--- title: Genomic sequencing in a prenatal setting - posters presented at ISPD description: Two members of Congenica’s Clinical Interpretation Services team presented posters at the International Conference on Prenatal Diagnosis and Therapy (ISPD) image: https://blog.congenica.com/hubfs/Rand%20poster.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) [Genomic sequencing in a prenatal setting - posters presented at ISPD](https://blog.congenica.com/genomic-sequencing-in-a-prenatal-setting-posters-presented-at-ipsd) ![Genomic sequencing in a prenatal setting - posters presented at ISPD](https://blog.congenica.com/hubfs/Rand%20poster.png) Clinical Cases prenatal EVENT posters # Genomic sequencing in a prenatal setting - posters presented at ISPD 6/14/2021    |    0 min read ## At the 25th International Conference on Prenatal Diagnosis and Therapy (ISPD), two members of Congenica’s Clinical Interpretation Services team presented posters. Rand Dubis, Translational Scientist, presented: ‘The Impact of Molecular Diagnosis of Fetal Structural Anomalies Using Exome Sequencing’.   Fetal anomalies are found in 2-5% of pregnancies upon Ultrasound Screening (USS). A genetic aetiology is achieved in ~40% of these cases using current testing strategies, leaving the majority undiagnosed. This study set out to: - Provide a genetic diagnosis for cases displaying fetal anomalies detected by USS using Exome Sequencing (ES), with phenotypes derived from USS and/or post-mortem analysis. - Implement an improved exome sequencing assay for the analysis of SNVs, indels and CNVs. - Assess the clinical impact of prenatal ES on the management of pregnancy and treatment of neonates. ![Rand poster](https://blog.congenica.com/hs-fs/hubfs/Rand%20poster.png?width=660&name=Rand%20poster.png) This poster illustrates the utility of combined CNV and SNV calling in a rapid testing scenario and the impact of prenatal ES on pregnancy management, postnatal therapy and surveillance,  reproductive decision making and additional implications for the wider family.   Molecular diagnosis was not always concordant with the primary clinical diagnosis, emphasizing both the challenge of reduced phenotype details in prenatal cases and the importance of expanding prenatal genotype-phenotype correlations.   [![See the poster](https://no-cache.hubspot.com/cta/default/6863388/b16aab4b-abac-4ece-bfd3-cff29d52dd52.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/b16aab4b-abac-4ece-bfd3-cff29d52dd52)     ## Suzanne Drury, Lead Translational Scientist, Prenatal Genomics & Personalized Health, presented: 'Non-invasive prenatal solutions for multiple single gene disorders in a single test (INGENIOUS - Improved Next Generation Sequencing for Ultrasound Abnormalities)'.   ![Suzie poster](https://blog.congenica.com/hs-fs/hubfs/Suzie%20poster.png?width=289&name=Suzie%20poster.png) 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.   Our non-invasive approach correctly identified all pathogenic de novo variants, in *RAF1*, *SOS1*, *FGFR3*, *COL1A1* and *NRAS* (x2). Assay performance and analytical annotation and interpretation of genetic variants are crucial for the accurate and rapid reporting of diagnosis in the prenatal period. [![See the poster](https://no-cache.hubspot.com/cta/default/6863388/d7815111-8b32-41e3-963e-2a20f53b0123.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/d7815111-8b32-41e3-963e-2a20f53b0123)   --- ### Related articles ![Congenica AI at Festival of Genomics](https://blog.congenica.com/hs-fs/hubfs/Yacine%20Dahman%20Machine%20Learning%20Software%20Developer%20at%20Congenica%20Fully%20Interpretable%20AI-Driven%20Variant%20Prioritization%20Delivers%20Fast%2c%20Actionable%20Results%20for%20Patients_..png?width=320&height=192&name=Yacine%20Dahman%20Machine%20Learning%20Software%20Developer%20at%20Congenica%20Fully%20Interpretable%20AI-Driven%20Variant%20Prioritization%20Delivers%20Fast%2c%20Actionable%20Results%20for%20Patients_..png) 2/15/2022 #### [Congenica AI at Festival of Genomics](https://blog.congenica.com/congenica-ai-at-festival-of-genomics) Watch our presentation from Festival of Genomics 'Fully Interpretable AI-Driven Variant Prioritization Delivers Fast, Actionable Results for Patients​'. ![Automation and AI improve driving improvements in genomic testing](https://blog.congenica.com/hs-fs/hubfs/ASHG_SM_AI_poster.png?width=320&height=192&name=ASHG_SM_AI_poster.png) 11/4/2021 #### [Automation and AI improve driving improvements in genomic testing](https://blog.congenica.com/automation-and-ai) At ASHG 2021 Congenica demonstrated how automation and AI are two key platform features delivering improvements and results in genomic data analysis. ![Enabling Genomic Medicine 2021](https://blog.congenica.com/hs-fs/hubfs/Recdrings%20now%20availan%3Be.png?width=320&height=192&name=Recdrings%20now%20availan%3Be.png) 10/15/2021 #### [Enabling Genomic Medicine 2021](https://blog.congenica.com/enabling-genomic-medicine-2021) EGM 2021 featured some of the world's leading experts in precision medicine discussing the latest innovations in genomics. 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