We successfully upgraded our state-of-the-art next-generation sequencing (NGS) laboratory for non-invasive prenatal testing (NIPT) in Zagreb, Croatia.

While Zagreb has been home to our laboratory since 2019, the expansion of our NIPT services necessitated a larger and more advanced setup. This milestone marks a significant step in our commitment to providing high-quality prenatal screening solutions. We would especially like to extend our gratitude to our Head of Laboratory, Aida Đorđević, and her dedicated team for their hard work and commitment in making this updated laboratory a reality.

Key Highlights of Our Upgraded NGS Laboratory:

• Global reach: The laboratory analyses samples from over 30 different countries.
• Established expertise: Since opening in 2019, nearly 100.000 NIPT samples have been analysed in our Zagreb facility.
• State-of-the-art technology: Our facility houses the latest model of NGS sequencing machines and employs advanced bioinformatics algorithms for faster and more efficient analysis, reducing turnaround times.

Introduction of upgraded NIPT Pro package

With our new laboratory capabilities, we are now able to process NIPT Pro tests in-house. This upgraded service significantly enhances our screening capabilities, allowing for the detection of 92 deletion and duplication syndromes, starting from 3 million base pairs (for selected syndromes even from 1 million base pairs). 

Additionally, for patients opting for incidental findings, we will report:

• All other autosomal aneuploidies.
• All other deletions and duplications larger than 5 million base pairs.

Stringent selection criteria for clinically significant syndromes

The selection of these syndromes was carefully curated based on disease severity and clinical relevance, using multiple authoritative international databases:

• Inclusion in at least two public databases (e.g., Decipher, OMIM, ClinGen, Orphanet).
• Inclusion in a single database with 30 or more case reports.

To ensure the accuracy and relevance of our findings, we have set clear disease exclusion criteria, filtering out conditions with incomplete penetrance, adult-onset, susceptibility factors, small fragments, and insufficient clinical data. This meticulous approach ensures that our upgraded NIPT Pro package delivers precise and actionable information for enhanced prenatal screening.

NIPT Pro is now available for twin pregnancies

In an exciting advancement, our upgraded software analysis now enables us to offer the NIPT Pro package for twin pregnancies. This means that for the first time, we can screen for 92 deletion and duplication syndromes in twin pregnancies.

Important note on NIPT Twins Pro: This service does not include screening for sex chromosome aneuploidies. While NIPT demonstrates high accuracy in detecting common trisomies, it has limitations in identifying sex chromosome aneuploidies in twin pregnancies. Particularly in same-sex twin pregnancies (XX or XY), distinguishing between normal and aneuploid genotypes is challenging due to the shared genetic material.

Advancing the future of NIPT

At GenePlanet, we remain dedicated to the continuous development of NIPT products and technologies. As the field evolves, we take pride in providing our patients and partners with superior services and cutting-edge advancements.

Stay tuned for next month’s newsletter, where we will delve deeper into the technologies behind various NIPT services.

Should you have any questions or require further information regarding these updates, please do not hesitate to reach out to us via [email protected]