Congenica, Cambridge, UK, has launched Congenica Prenatal, a new application on its platform to help 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 postnatal treatment. It can also assist with identifying the recurrence risk in future pregnancies.

Routine ultrasound scanning detects anomalies in up to 5% of pregnancies, while routine qPCR and chromosomal microarray testing provide diagnoses for only around 40% of those 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 are derived from postnatal cases from healthcare providers with limited prenatal clinical genetics expertise.

To help overcome the diagnostic challenge, Congenica has developed Congenica Prenatal, a proprietary application within its decision-support platform. The application provides rapid and intuitive analysis of fetal anomalies, addressing key challenges highlighted by the American College of Medical Genetics and the International Society for Prenatal Diagnosis on the use of fetal exome and genome sequencing.3,4

Congenica Prenatal will enable healthcare professionals to research prenatal cases with greater efficiency, saving an average of 40 minutes per case in reporting times alone.

“Identifying the precise molecular cause of a fetal abnormality using exome sequencing is a major step forward,” says Tessa Homfray, FRCPCH, consultant in medical genetics for St George’s University Hospitals, NHS Foundation Trust. “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.”

“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,” says Nick Lench, PhD, chief scientific officer for Congenica. “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.”

Congenica Prenatal is for research use only.

For more information, visit Congenica.


  1. 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;393:747–757; doi: 10.1016/s0140-6736(18)31940-8.
  2. Petrovski S, Aggarwal V, Giordano JL, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393:758–767; doi: 10.1016/s0140-6736(18)32042-7.
  3. Monaghan KG, Leach NT, Pekarek D, et al. 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.
  4. 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.