# Gene Solutions Study Finds Preterm-Birth Signals in Routine triSure NIPT Data

- Link: https://www.thailand-business-news.com/pr-news/gene-solutions-study-finds-preterm-birth-signals-in-routine-trisure-nipt-data
- Published: 2026-09-25T12:10:00+07:00
- Author: PR Newswire

**_A Gene Solutions study published in American Journal of Obstetrics & Gynecology(
AJOG) Global Reports finds cell-free DNA fragmentomic patterns associated with spontaneous
preterm birth,_****_ pointing to a potential path toward earlier pregnancy-risk 
assessment. _**

SINGAPORE, Sept. 25, 2026 /PRNewswire/ — [Gene Solutions](https://genesolutions.com/),
a global biotechnology company providing precision cell-free DNA solutions through
multi-omics and artificial intelligence to improve pregnancy care, cancer detection
and precision medicine, today announced the publication of a study showing the potential
to assess the risk of spontaneous preterm birth from cell-free DNA fragmentomic 
signals already present in routine first-trimester non-invasive prenatal testing(
NIPT) data.

[⌊A Gene Solutions study published in American Journal of Obstetrics & Gynecology(
AJOG) Global Reports finds cell-free DNA fragmentomic patterns associated with spontaneous
preterm birth, pointing to a potential path toward earlier pregnancy-risk assessment⌉⌊
A Gene Solutions study published in American Journal of Obstetrics & Gynecology (
AJOG) Global Reports finds cell-free DNA fragmentomic patterns associated with spontaneous
preterm birth, pointing to a potential path toward earlier pregnancy-risk assessment⌉[
A Gene Solutions
study published in American Journal of Obstetrics & Gynecology (AJOG) Global Reports
finds cell-free DNA fragmentomic patterns associated with spontaneous preterm birth,
 pointing to a potential path toward earlier pregnancy-risk assessment

Published in _AJOG Global Reports_, the study,** "First-Trimester Non-Invasive Prediction
of Preterm Birth Using Cell-Free DNA Fragmentomics,"** examined whether sequencing
data already generated for NIPT could also provide an earlier molecular indication
of spontaneous preterm-birth risk.

Over the past decade, NIPT has become a widely used first-trimester screening option
that is both safe and highly accurate. By analyzing cell-free DNA circulating in
maternal blood–predominantly maternal cfDNA, with a minor fetal-derived fraction–
NIPT has transformed prenatal care by enabling screening for fetal chromosomal abnormalities
and selected genetic disorders.

Since launching [triSure](https://genesolutions.com/our-test/trisure-procare?document=91381)
in 2018, Gene Solutions has expanded its prenatal portfolio from chromosomal screening
to include maternal carrier screening in 2022, followed by selected dominant single-
gene disorders and microdeletions in 2023. Now supporting millions of pregnancies,
triSure is the NIPT platform from which Gene Solutions is investigating a new frontier:
whether the same cell-free DNA data can also reveal signals associated with pregnancy
complications.

The discovery was enabled by DNAsphere.AI, Gene Solutions’ proprietary precision
data and AI platform, which integrates large-scale, well-annotated datasets with
multi-omic analysis and machine learning to uncover clinically meaningful cell-free
DNA signals across multiple precision-health applications.

The study analyzed fragmentomics, including the length, positioning and molecular
ends of cfDNA fragments, for biological patterns associated with spontaneous preterm
birth.

"NIPT demonstrated that a maternal blood sample can provide meaningful genetic information
about a pregnancy. Our research asks the next question: What additional insights
can the same cell-free DNA data provide?" said **Dr. Cuong Nguyen, Principal Investigator
at Gene Solutions.** "By combining routine NIPT data with the multi-omic and machine
learning capabilities of DNAsphere.AI, we can investigate biological signals that
extend beyond what DNA encodes and explore how cell-free DNA fragments are formed."

**AI-driven signals in routine NIPT data**

Using machine learning, researchers identified recurring patterns at the ends of
cell-free DNA fragments that differed between pregnancies that ended in spontaneous
preterm birth and those that reached term. These patterns, known as **end motifs**,
may reflect biological changes during pregnancy.

"Just as the first and last letters of words can reveal recurring linguistic patterns,
the molecular ends of cfDNA fragments can reveal patterns in how DNA is released
into the bloodstream," said **Dr. Hoa Giang, Co-founder and Chief Data Science Officer
at Gene Solutions**. "Our machine learning model analyzes these end motifs as a 
system-level readout of biological processes that may be associated with spontaneous
preterm birth."

In the study’s held-out validation cohort, the end-motif model achieved an **AUC
of 0.970**, with **94% sensitivity at a specificity above 90%**. The findings remain
preliminary and require confirmation in larger, prospectively enrolled populations.
Importantly, the AI analysis used existing first-trimester NIPT data and did not
require another blood draw or additional sequencing.

**Advancing toward multinational prospective validation**

Gene Solutions is advancing prospective research to assess the model’s performance
across diverse populations, sequencing settings, and models of prenatal care. The
program will evaluate real-world clinical performance, appropriate risk thresholds,
integration with established maternal and obstetric risk factors, and how an early
signal could support more personalized pregnancy monitoring.

A prospective observational study registered in Vietnam is evaluating cfDNA and 
clinical information for the prediction of spontaneous preterm birth, preeclampsia
and gestational diabetes, with an estimated enrollment of 1,105 participants.

Additional prospective research collaborations are being established with multiple
clinical centers in India to support validation across ethnically and geographically
diverse populations.

"Our ambition is not simply adding another score to an NIPT report," said** Dr. 
Sang Hung Tang, Medical Director at Gene Solutions**. "It is to establish whether
an earlier molecular warning can help physicians provide more informed surveillance
and, ultimately, give more babies the opportunity to be born at a healthier gestational
age. That requires strong prospective evidence, responsible clinical implementation,
and close collaboration with obstetricians, maternal-fetal medicine specialists,
and healthcare systems."

**Building the next generation of pregnancy intelligence**

The research demonstrates how the DNAsphere.AI precision data platform can transform
large-scale multi-omic and clinical data into new biological insights from cell-
free DNA across pregnancy care and precision medicine.

At [ISPD 2026](https://genesolutions.com/news/gene-solutions-showcases-global-evidence-and-responsible-innovation-in-prenatal-and-womens-genomic-health-at-ispd-2026),
the company also presented emerging research into AI-driven biomarkers for preterm
birth and gestational diabetes, describing a potential future in which prenatal 
testing offers broader insight into genetic conditions and pregnancy health from
a single blood draw.

These findings form part of a wider shift in international prenatal cfDNA research.
In August 2026, an independent study published in _AJOG Global Reports_ evaluated
multimodal first-trimester cfDNA analysis for predicting preterm and term preeclampsia.
That same month, a separate study published in _Science Translational Medicine_ 
analyzed 1,910 first-trimester cfDNA samples and found that fragment-length, end-
motif and cell-of-origin signals could help stratify adverse pregnancy outcomes 
in patients with immune-mediated disease. Although these studies examined different
complications, populations and analytical approaches, their findings point toward
a common scientific direction: cfDNA may provide insight into pregnancy biology 
beyond fetal chromosomal status.

"We are seeing scientific convergence across independent research groups worldwide,"
said **Dr. Hoa Giang.** "Different teams are finding that cell-free DNA carries 
biological information beyond chromosomal status. That strengthens the rationale
for rigorous prospective validation and for exploring how routine NIPT data could
support a broader understanding of pregnancy health."

Gene Solutions is contributing to this emerging field through its research into 
spontaneous preterm birth and gestational diabetes mellitus, supported by multinational
prospective validation programs. The preterm-birth classifier remains investigational
and is not intended to diagnose preterm labor, replace established obstetric assessment
or direct treatment without further clinical validation.

**About the Preterm Birth ****S****tudy**

The full article, "First-Trimester Non-Invasive Prediction of Preterm Birth Using
Cell-Free DNA Fragmentomics," is available in AJOG Global Reports: [**https://doi.org/10.1016/j.xagr.2026.100692**](https://doi.org/10.1016/j.xagr.2026.100692)

Read the full Scientific Recap at: [https://genesolutions.com/news/gene-solutions-study-in-ajog-global-reports-shows-routine-nipt-data-may-help-predict-first-trimester-preterm-birth-risk](https://genesolutions.com/news/gene-solutions-study-in-ajog-global-reports-shows-routine-nipt-data-may-help-predict-first-trimester-preterm-birth-risk)

**About Gene Solutions**

Gene Solutions is a global biotechnology company advancing precision cell-free DNA
solutions across cancer detection, precision oncology and pregnancy care. By combining
multi-omic science, data intelligence and a scalable technology platform, Gene Solutions
brings world-class genomics closer to clinicians and patients, expanding access 
to clinically meaningful innovation around the world.

For more information, visit [**www.genesolutions.com**](https://www.genesolutions.com/).

**Media contact:**
[pr@genesolutions.com](https://www.thailand-business-news.com/pr-news/pr@genesolutions.com)

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**Read the original article :** [Gene Solutions Study Finds Preterm-Birth Signals in Routine triSure NIPT Data ](http://www.prnasia.com/story/archive/5050456_AE50456_0?rand=184833)
