Two laboratory professionals reviewing data together at a computer in a laboratory.
Sample technologies

Expanding access to prenatal testing from a simple blood draw

Since its introduction in 2011, non-invasive, blood-based prenatal testing has become one of the fastest-growing genetic tests worldwide. For Jean-Martin Billard and his team at the Institut de Pathologie et de Génétique in Belgium, meeting this growing demand, and testing around 20,000 blood samples a year, means finding ways to work more efficiently while maintaining analytical performance. 

Earlier insight, without invasive testing

Over the past decade and a half, non-invasive prenatal testing (NIPT) has reshaped how pregnancies are screened for genetic conditions.

Using a simple blood draw from expectant mothers, NIPT analyzes cell-free DNA (cfDNA) fragments circulating in the mother's bloodstream. Most are maternal, while a small but crucial proportion comes from the fetus. By analyzing these fragments, laboratories can flag fetal genomic abnormalities, often as early as the first trimester.

Unlike amniocentesis or chorionic villus sampling, NIPT carries no risk of miscarriage and can therefore be offered to a broader population of pregnant women. Many European statutory health insurance providers cover the test, and it has become a routine screening option in many countries.

But making screening more accessible creates a different challenge for laboratories: how do you process growing numbers of samples efficiently and reliably?

Pregnant patient undergoing abdominal examination with a stethoscope

Screening at scale

Laboratory professional handling blood sample tubes at a lab workstation.

At the Institut de Pathologie et de Génétique (IPG), or Institute of Pathology and Genetics in Gosselies, Belgium, around 20,000 NIPT samples are processed each year. That represents approximately one-sixth of Belgium’s total annual NIPT activity, estimated at around 110,000 to 120,000 tests.

IPG is one of eight officially recognized Human Genetics Centers in Belgium, authorized to perform reimbursed genetic testing within the Belgian healthcare system. Its multidisciplinary teams bring together expertise in clinical genetics, laboratory testing, bioinformatics and genetic counseling.

IPG also takes a whole-genome approach to screening, allowing clinicians to detect a wider range of abnormalities than tests focused on only a handful of chromosomes and sometimes uncover unexpected findings.

For Jean-Martin Billard, MSc, Manager of IPG's cfDNA extraction team, managing that volume means finding ways to reduce hands-on work while maintaining the analytical performance the laboratory needs.

It’s really important to have a reduced hands-on time because the turnaround time of the NIPT analysis is only four days in Belgium.
Jean-Martin Billard

Managing high-volume screening efficiently

Since 2017, the QIAGEN QIAsymphony SP has formed the backbone of IPG's established NIPT screening workflow. Once blood samples arrive at the laboratory, technicians separate the plasma. Samples are then loaded in bulk into the system, where QIAsymphony DSP Circulating DNA kits are used to extract cell-free DNA from the plasma.

IPG processes 24 samples at a time. Once extracted, the DNA is sequenced and the results are interpreted using the laboratory's in-house bioinformatics software.

Billard says his team has been very happy with the system.

QIAsymphony SP offers a more automated workflow. It reduces technician hands-on time and variability and improves sample traceability, which is especially important when processing so many samples.
Jean-Martin Billard

Billard's laboratory has also tested competitor platforms. He says the team found QIAsymphony to be the most automated, reducing the risk of human error in addition to saving time.

Jean-Martin Billard explains how his team uses QIAsymphony instruments as the backbone of their cfDNA isolation workflow, helping make high-throughput prenatal screening possible.

Putting QIAsymphony Connect to the test

IPG was also among a small number of laboratories to test QIAsymphony Connect*, QIAGEN's new IVD-compliant platform for automated clinical nucleic acid extraction.

QIAsymphony Connect builds on the established QIAsymphony platform with new features that make it easier and faster to process more samples, while maintaining full backward compatibility with QIAsymphony reagent kits and consumables. Like QIAsymphony SP, QIAsymphony Connect uses magnetic bead technology to isolate nucleic acids for a completely hands-free extraction procedure.

For an experienced QIAsymphony user such as IPG, that meant evaluating a new platform while retaining the familiar reagent kits and consumables used across the QIAsymphony family.

QIAsymphony Connect automatically extracts high-quality nucleic acids using an improved, more efficient process, including 50% faster safety checks and a 25% quicker cfDNA isolation protocol**. The new magnetic capture plate design also improves magnetic bead collection at the end of the extraction, allowing more nucleic acid to be recovered.

For IPG, Billard says the time saving became noticeable across repeated batches.

 

QIAsymphony Connect laboratory system with staff member walking in the background
For 20,000 samples a year, if we gain 20 minutes every 24 samples, it's quite a huge amount of time savings.
Jean-Martin Billard

Speed was only part of the evaluation. Billard says a direct comparison between QIAsymphony SP and QIAsymphony Connect showed no difference in analytical results. Double-tested samples produced equivalent outcomes, confirming that the faster workflow does not affect performance or data quality. In fact, his team observed a consistent 15% increase in cfDNA concentration in samples extracted on the QIAsymphony Connect.

That combination matters for a laboratory like IPG: greater process efficiency and faster processing, while maintaining comparable analytical performance in the team's testing.

Product highlight

QIAsymphony Connect*: An IVD-compliant platform for automated clinical nucleic acid extraction, designed to standardize nucleic acid extraction with less hands-on time, complete sample traceability and improved productivity.

What QIAsymphony Connect means for IPG

Learn more

A powerful screen, with important limits

NIPT can provide valuable early information, but Billard stresses that it is a screening test, not a diagnosis.

The fetal DNA analyzed by NIPT comes from the placenta rather than directly from the fetus. Biological factors such as placental mosaicism, where the fetus has a normal chromosomal makeup but the placenta contains cells with abnormal chromosomes, can therefore affect results.

A positive screen may later prove benign. False negatives, although rare, can also occur.

Any concerning NIPT result must therefore be confirmed through a follow-up diagnostic test, like amniocentesis.

In practice, NIPT works best as an early warning system, helping clinicians identify pregnancies that warrant closer investigation and careful clinical follow-up.

Detecting the unexpected

In rare cases, NIPT can reveal more than the chromosomal status of the fetus. 

Several large retrospective studies have found that whole-genome sequencing in NIPT can sometimes detect DNA shed from undiagnosed maternal cancers. Billard's team has seen this firsthand.

We can detect cancer even if the mother is not experiencing any symptoms. That's a powerful tool.
Jean-Martin Billard
Billard stresses that only time will tell whether these findings could eventually contribute to a cancer screening test offered more broadly to pregnant women.

Impact at a glance

Non-invasive prenatal testing (NIPT) gives expectant mothers an early, non-invasive way to screen for fetal chromosomal abnormalities. At the Institute of Pathology and Genetics (IPG) in Belgium, around 20,000 NIPT samples are processed each year, making efficient and reliable sample processing essential.

IPG uses QIAGEN's QIAsymphony SP for automated cell-free DNA extraction and was among a small number of laboratories to test QIAsymphony Connect. In IPG's evaluation, the new platform brought greater process efficiency and faster sample processing, while samples tested on both systems produced equivalent analytical outcomes.

~20,000 NIPT samples

processed each year at IPG

Up to 96 samples

processed in four independent batches

20 minutes 

saved per 24 samples** 

About IPG

The Institute of Pathology and Genetics (IPG) is based in Gosselies, Belgium. It is one of eight officially recognized Human Genetics Centers in Belgium. These centers are authorized to perform reimbursed genetic testing within the Belgian healthcare system and bring together expertise including clinical genetics, laboratory medicine, bioinformatics and genetic counseling.

IPG performs around 20,000 non-invasive prenatal tests each year, representing approximately one-sixth of Belgium’s total annual NIPT activity.

Unlike many commercial NIPT approaches that primarily screen for the three most common fetal trisomies, chromosomes 21, 18 and 13, IPG uses a whole-genome sequencing approach. This allows the laboratory to assess these trisomies as well as a broader range of chromosomal abnormalities across all chromosomes, including certain fetal and maternal chromosomal imbalances.

Sign for the Institute of Pathology and Genetics outside a research facility
Jean-Martin Billard headshot picture

Jean-Martin Billard

Manager, cell-free DNA extraction team, IPG

Billard studied biochemistry and molecular and cell biology at the University of Namur, Belgium, where he earned his Master's degree. 

Since 2017, he has worked at IPG, first as a scientific expert in prenatal cytogenomics and currently as Manager of the cell-free DNA extraction team. He is also participating in implementing a pre-implantation genetic diagnostic testing service.

Disclaimer:

*QIAsymphony Connect is a dual-mode IVD instrument that supports both Research Use Only (RUO) and in vitro diagnostic (IVD) workflows. Established RUO and IVD applications will be released for use on QIAsymphony Connect over the coming months.

**Observed improvements reflect results obtained under specific development, evaluation or exploratory conditions and should be interpreted within the context of the workflows assessed. Such observations should not be construed as universally established performance characteristics for the entire QIAsymphony Connect application portfolio. The applicability of individual observations may vary depending on the workflow, application, protocol implementation and release status.

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