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.
Prenatal Genetic Screening with VarSeq
Discover how whole exome sequencing revolutionizes prenatal testing by watching our webcast recording, where we demonstrate Golden Helix's powerful, user-friendly tools that enable accurate, cost-effective genetic analysis, ultimately improving diagnostic outcomes and expanding research possibilities.
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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!
eBooks
Check out our free eBooks on a variety of different topics:
Webcasts
Watch an informative webcast featuring VarSeq in action!
- Prenatal Genetic Screening with VarSeq
- Automated FASTQ to Reports with VarSeq Suite: A fast, flexible solution
- CNV Analysis in VarSeq