Congenital malformations can complicate approximately 3–5% of pregnancies. Many congenital malformations are associated with aneuploidy, structural chromosomal rearrangements (large or submicroscopic), and copy number variants (CNVs). While some of these mutations can be diagnosed with G-band karyotyping, QF-PCR, or microarray analysis, interpreting monogenic disorders prenatally using next-generation sequencing (NGS) techniques allows a better and more accurate assessment.
Achieving a genetic diagnosis in fetal life may improve clinical care by informing individualized genetic counseling for current and future pregnancies, allowing discussion regarding prognosis and treatment with the appropriate pediatric specialists. It may support parents in decision-making regarding the termination of pregnancy.
Golden Helix and its VarSeq suite of products has vast capabilities that can be leveraged in the Non-invasive Prenatal Screening space. We enable precise and vast analytics capabilities, a scalable platform that allows labs to ramp up their testing capabilities and a simple business model.
Efficient Application of NGS Family-Based Analysis
Watch as we show off the versatility and scalability of our AMP interpretation capabilities!
We know our software will exceed your expectations. But don't just take it from us, see what our customers have benefitted from it.
Dr. med. Konstanze Hörtnagel
Specializing in hereditary diseases including inherited cancers as well as non-hereditary solid-tumors, MVZ Martsried implemented Golden Helix to make NGS gene testing and variant discovery efficient, scalable and accessible by converting NGS data output into customized clinical reports in a timely manner.Read Dr. Hörtnagel's Entire Case Study
By utilizing bioinformatics software solutions from Golden Helix, Ben Lundie and his team at Pathology Queensland provide a state-wide comprehensive diagnostic pathology service.Read Lundie's Entire Case Study
Get in Contact
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Recommended Learning Materials
We have a variety of supplemental learning materials that are an excellent resource for anyone interested in the industry or our software solutions. Here are some of our recommended materials for you to check out related to VarSeq!
Check out our free eBooks on a variety of different topics:
Watch an informative webcast featuring VarSeq in action!
- End to end solution for clinical labs
- An exploration of clinical workflows
- CNV Analysis in VarSeq
- Identifying genetic variant
Introduction to VarSeq: