Prenatal Screening 

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!

Case Studies

We know our software will exceed your expectations. But don't just take it from us, see what our customers have benefitted from it.

Get in Contact

If you are interested in starting a discussion about how Golden Helix software can assist in prenatal screening, please fill out the form below, and we will send you the details!

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:

Other Resources

VarSeq Viewer:
Download Here

Introduction to VarSeq:
Download Here