Cambridge, United Kingdom – 4th June 2020 - Congenica, a digital health company enabling rapid analysis of complex genomic data, has launched Congenica Prenatal™, a new application on its platform that helps to facilitate faster, more accurate and comprehensive molecular research into fetal anomalies.
Prenatal research into genetic anomalies helps support the management of pregnancy, labor and appropriate pre- and post-natal treatment. It can also assist with identifying the recurrence risk in future pregnancies.
Routine ultrasound scanning detects anomalies in up to 5% of pregnancies, and routine qPCR and chromosomal microarray (CMA) only provide diagnoses for around 40% of these patients. Additional research using exome sequencing can help uncover the underlying molecular causes of a further 10% of undiagnosed cases – many of which are de novo variations not inherited from parents [1,2].
Adding to the challenge of identifying causal variants in prenatal settings is the issue that most gene-phenotype data is derived from postnatal cases with a limited pool of prenatal clinical genetics expertise.
To help overcome the diagnostic challenge, Congenica has developed Congenica Prenatal, a proprietary application within its industry-leading decision support platform to provide rapid and intuitive analysis of fetal anomalies, addressing key challenges highlighted by the American College of Medical Genetics (ACMG) and International Society for Prenatal Diagnosis (ISPD) on the use of fetal exome and genome sequencing [3,4].
Congenica Prenatal will support healthcare professionals to research prenatal cases with greater efficiency, saving an average of 40-minutes per case in reporting times alone.
Congenica software is used throughout the UK NHS as the exclusive decision support platform for the national Genomic Medicine Service and internationally by private and public hospitals and laboratories where the software reduces average interpretation costs by up to 95% and helps healthcare professionals to obtain genetic information 20-times faster than previously possible.
Dr Tessa Homfray, Consultant in Medical Genetics St George’s University Hospitals, NHS Foundation Trust: "Identifying the precise molecular cause of a fetal abnormality using exome sequencing is a major step forward. In addition to allowing parents to make informed decisions about pregnancy and birth, it is an essential step in developing early interventions using the treatments now available both in utero and in early postnatal life."
Dr Nick Lench, Chief Scientific Officer, Congenica: “Congenica Prenatal further extends our platform’s extensive automation capabilities and our clinical expertise into the prenatal area to maximize the efficiency of research into fetal anomalies.”
“Where once genomic analysis of these complex cases was incredibly challenging, even for specialists, the Congenica Prenatal module provides healthcare professionals with faster, simplified and reliable variant identification, review and reporting in settings where every minute matters.”
Further information is available at www.congenica.com/prenatal
Congenica Prenatal is for research use only and should not be used as a primary diagnostic tool.
References
Lord J, McMullan DJ, Eberhardt RY, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019;393:747–57. doi:10.1016/S0140-6736(18)31940-8
Petrovski S, Aggarwal V, Giordano JL, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet 2019;393:758–67. doi:10.1016/S0140-6736(18)32042-7
Monaghan KG, Leach NT, Pekarek D, et al. ACMG Professional Practice and Guidelines Committee. The use of fetal exome sequencing in prenatal diagnosis: points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(4):675‐680. doi:10.1038/s41436-019-0731-7
International Society for Prenatal Diagnosis; Society for Maternal and Fetal Medicine; Perinatal Quality Foundation. Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis. Prenat Diagn. 2018;38(1):6‐9. doi:10.1002/pd.5195