New Frontiers in Detecting Genetic Disorders – from Fetal Chromosomes to Cancer
New Frontiers in Detecting Genetic Disorders – from Fetal Chromosomes to Cancer
How a vial of blood discovered in a Hong Kong laboratory rewrote prenatal care for 100 million women and opened a new front for early cancer detection
Before the invention of non-invasive prenatal testing, or NIPT, expectant mothers around the world faced an agonizing choice. Down syndrome and other chromosomal disorders, which affect roughly one in 700 children globally, could only be reliably ruled out by an invasive test that carried a real, if small, risk of miscarriage. Tens of millions of women had to weigh the hard choice that could, in the worst case, end a perfectly healthy pregnancy.
That dilemma has now largely disappeared from clinics in more than 100 countries. NIPT, the test that resolved it, has been performed on more than 100 million pregnant women worldwide. The discovery made in a Hong Kong laboratory has since reshaped not only prenatal care but also the early detection of some of the world's most common cancers, allowing much better chances of treatment leading to a cure.
"Our research has created a paradigm shift in prenatal medicine,"
A New Route through the Bloodstream
"Our research has created a paradigm shift in prenatal medicine," said Professor Dennis Lo Yuk-ming, the molecular biologist widely known as the "father of non-invasive prenatal testing" and now Vice-Chancellor and President of The Chinese University of Hong Kong (CUHK). "The technology has now become the standard prenatal testing method for Down syndrome, obviating the need for invasive methods in many pregnant women."
Lo's discovery — that fragments of cell-free fetal DNA float freely in the plasma of a pregnant woman's blood — was published in The Lancet in August 1997, the year he returned from Oxford to join CUHK. For this breakthrough, and for the line of work that followed, he was awarded the 2022 Lasker~DeBakey Clinical Medical Research Award.
Lo began looking for fetal cells in maternal blood at Oxford in 1989. After eight years of frustration, two papers describing tumor DNA circulating in the plasma of cancer patients pointed him in a new direction. "I came across two articles about cancer patients carrying cancer DNA in their plasma or serum," he said. "Tumors grow in patients' bodies in a way somewhat similar to fetuses developing in wombs. While many scientists at that time had a general assumption that DNA belonged only within a cell, I made the bold move to propose that fetal markers could also be found in maternal plasma. It turned out to be a correct hypothesis."
Using a deliberately crude method he later compared to cooking instant noodles — boiling plasma to release DNA — his CUHK team detected Y-chromosome sequences in 80 percent of women carrying male fetuses, using just ten microliters of plasma. For the first time, there was direct evidence that fetal DNA circulates in the mother's blood.
An Impact Measured in Millions, across Continents
It took another 14 years for that finding to reach the clinic. NIPT became commercially available in 2011, and the test now identifies more than 99 percent of Down syndrome cases.
Nowadays, the test is in routine clinical use across more than 100 countries and on every inhabited continent. In Hong Kong, the Hospital Authority has been providing it free of charge to expectant mothers since 2019. In the Chinese mainland, more than 60 percent of pregnant women now take the test annually. A growing number of insurers in North America and Europe cover it as part of routine maternity care, and public health programs in parts of Africa and Latin America offer it through major referral hospitals.
This small vial of blood links a pregnant woman in Nairobi receiving a routine NIPT result, an office worker in Hong Kong knowing he has a treatable early-stage cancer, and a patient in Boston taking part in a multi-cancer screening program under a single line of scientific inquiry that crosses the borders between obstetrics, molecular biology, genomics and oncology.
Connecting the Dots in Genetic Disorders between Fetus and Tumor
The biological intuition that opened the door to NIPT also points the way back to oncology. “The placenta and the tumor speak the same language ─ they both behave like a parasitic tissue invading the host’s body and nourished by blood vessels,” Lo reasoned. Both behave like invading tissue, feeding off a borrowed blood supply.
That insight proved to be the seed of the field now known as liquid biopsy. The CUHK research team applied the technology for reading a baby’s genome from a vial of maternal blood to hunt for genetic traces of cancer in patients’ blood, beginning with nasopharyngeal carcinoma (NPC), a cancer particularly prevalent in southern China.
The development of NPC is closely linked with Epstein-Barr virus (EBV) infection — and traces of the virus's DNA can be detected in patients' blood. Making use of this association, the team established a blood test for detecting cancer based on the measurement of EBV DNA in plasma with an accuracy of over 95 percent.
“Early detection is crucial for the management of NPC,” Lo said. His landmark studies of asymptomatic individuals identified 70 to 75 percent of NPC cases at Stage 1 or 2, when the cancer is still frequently curable. By contrast, only about 20 percent of unscreened or symptomatic NPC patients are diagnosed at these early stages.
The enduring value of this clinical breakthrough lies in its generalizability. The CUHK team spearheaded a test capable of screening for numerous cancers at early stages from a single blood draw. This notable multi-cancer early detection (MCED) test was named one of TIME’s Best Inventions of 2022. In April 2026, Lo became the 22nd recipient of the AACR–Irving Weinstein Foundation Distinguished Lectureship — the first Hong Kong scientist, and the second Chinese scholar.
From a vial of blood to a worldwide standard of care, the journey is still under way.
Connecting the Dots in Genetic Disorders between Fetus and Tumor
The biological intuition that opened the door to NIPT also points the way back to oncology. “The placenta and the tumor speak the same language ─ they both behave like a parasitic tissue invading the host’s body and nourished by blood vessels,” Lo reasoned. Both behave like invading tissue, feeding off a borrowed blood supply.
That insight proved to be the seed of the field now known as liquid biopsy. The CUHK research team applied the technology for reading a baby’s genome from a vial of maternal blood to hunt for genetic traces of cancer in patients’ blood, beginning with nasopharyngeal carcinoma (NPC), a cancer particularly prevalent in southern China.
The development of NPC is closely linked with Epstein-Barr virus (EBV) infection — and traces of the virus's DNA can be detected in patients' blood. Making use of this association, the team established a blood test for detecting cancer based on the measurement of EBV DNA in plasma with an accuracy of over 95 percent.
“Early detection is crucial for the management of NPC,” Lo said. His landmark studies of asymptomatic individuals identified 70 to 75 percent of NPC cases at Stage 1 or 2, when the cancer is still frequently curable. By contrast, only about 20 percent of unscreened or symptomatic NPC patients are diagnosed at these early stages.
The enduring value of this clinical breakthrough lies in its generalizability. The CUHK team spearheaded a test capable of screening for numerous cancers at early stages from a single blood draw. This notable multi-cancer early detection (MCED) test was named one of TIME’s Best Inventions of 2022. In April 2026, Lo became the 22nd recipient of the AACR–Irving Weinstein Foundation Distinguished Lectureship — the first Hong Kong scientist, and the second Chinese scholar.
From a vial of blood to a worldwide standard of care, the journey is still under way.
From prenatal testing to early cancer screening: Professor Dennis Lo Yuk-ming, Vice-Chancellor and President of The Chinese University of Hong Kong (CUHK) and the "father of non-invasive prenatal testing", talks about where his research breakthroughs in cell-free DNA are heading next.
About The Chinese University of Hong Kong (CUHK)
- A bilingual and multicultural institution with a distinct commitment to combining tradition with modernity and bringing together China and the West
- Consistently ranked among the top in Hong Kong universities for total patent applications, patents granted and intellectual property licensing revenue over the past five years
- The only university in Hong Kong with a collegiate system that provides students with whole-person education, pastoral care and cross-disciplinary community life
- Associated with four Nobel Laureates, including Professor Sir Charles K. Kao, the "Father of Fiber Optics", who was a former Vice-Chancellor and President of the University
- The largest university campus in Hong Kong, abundant with greenery and serving as a hub for teaching, research and innovation
This content was paid for and created by The Chinese University of Hong Kong. The editorial staff of The Chronicle had no role in its preparation. Find out more about paid content.
This content was paid for and created by The Chinese University of Hong Kong. The editorial staff of The Chronicle had no role in its preparation. Find out more about paid content.
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