尊龙凯时 - 人生就是搏!

For decades, prenatal screening relied on invasive procedures like amniocentesis, which posed risks of miscarriage, caused discomfort, and required long hours from doctors.

Today, millions benefit from a safer, faster, and more reliable alternative: non-invasive prenatal testing (NIPT). This simple blood test has transformed prenatal care.

Leading this transformative effort is Professor Shan Dan, a pioneer in China’s NIPT clinical research and implementation. Her mission is to ensure that more pregnant women can access safe and convenient prenatal care, thereby safeguarding the health of the next generation.

Eager for More Accessible Technology

In a small examination room at Beijing Obstetrics and Gynecology Hospital, Professor Shan recalls the long hours she once spent performing amniocentesis procedures. At her busiest, she conducted up to 29 tests a day, meticulously extracting amniotic fluid to assess fetal health. The work was physically exhausting, and each procedure carried the risk of miscarriage.

"The running joke was that the needles we used (for sampling) looked better suited for sewing the soles of shoes than any medical," Professor Shan says. "Whether it was the patient’s experience or the risk of miscarriage, things were more challenging back then."

Back then, NIPT didn’t exist. The only way to detect chromosomal abnormalities was through invasive procedures like amniocentesis and chorionic villus sampling—both carrying risks of infection and pregnancy loss. These methods were not only uncomfortable but also limited in accuracy.

A Revolutionary Breakthrough

Curious about prenatal testing practices worldwide, Professor Shan was intrigued by Hong Kong’s 10% positive detection rate during her visit, far higher than her own 2%. Local experts revealed their layered screening process, starting at week 12, but Shan felt it was too complex.

Determined to find a simpler solution, she met Wang Jian, Founder of BGI Genomics, who was working on fundamental research in non-invasive DNA analysis at the time. Wang’s reliable detection of chromosomal abnormalities inspired Shan, who saw potential in this technology for better prenatal care.

Shan Dan as a young obstetrician and gynecologist.

By 2008, BGI Genomics, a leader in genomics, began applying next-generation sequencing (NGS) technology to analyze fetal cfDNA. Partnering with hospitals in Shenzhen and Zhuhai, they conducted large-scale clinical trials involving thousands of cases. The results were astonishing: NIPT proved far more accurate than traditional screenings.

By end of 2009, Professor Shan Dan, in collaboration with BGI Genomics, performed one of the earliest NIPT tests on a pregnant woman. That moment marked a turning point—not just for her career, but for prenatal care in China.

Bringing NIPT to Millions

For Professor Shan, the introduction of NIPT to the community was nothing short of revolutionary. "I’d do a hundred amniocentesis test and get exhausted, and I could only detect two abnormalities. That’s no exaggeration," she recalls. The limitations of existing methods often left her feeling that her work was "not worthwhile."

Determined to find a better way, she collaborated with researchers from BGI Genomics to refine the new technology. Their joint study, published in BMC Medical Genomics in 2012, showed that the noninvasive fetal trisomy (NIFTY®) test—based on massively parallel sequencing—was not only highly accurate but also more reliable than previous screening methods.

The results were compelling: 100% sensitivity and 99.96% specificity in detecting autosomal aneuploidies, including Down syndrome. With just a 5mL maternal blood sample, NIPT could now detect chromosomal abnormalities as early as 12 weeks of pregnancy.

Today, NIPT is a global standard in prenatal care. In China, it is now a routine part of prenatal screening. The technology’s accessibility has expanded rapidly, with many provinces incorporating it into medical insurance programs. Notably, provinces like Hebei have implemented fully subsidized NIPT programs, ensuring that more families could benefit from early detection.

As one of the leading developers of NIPT, BGI Genomics has helped make this technology widely available, reaching millions of expecting parents globally. From research to large-scale implementation, BGI Genomics has been instrumental in making noninvasive prenatal testing a routine part of maternal healthcare.

The Earlier, The Better

Despite its success, Professor Shan believes the journey isn’t over. "When it comes to screening, the earlier, the better," she says.

Professor Shan Dan (middle) with students

With an increasing number of pregnancies among older mothers in China, the demand for early, accurate screening continues to grow. She envisions a future where NIPT can be performed even earlier—potentially as early as 8 or 9 weeks into pregnancy.

More than a decade after conducting one of the earliest clinical NIPT tests, Professor Shan remains dedicated to advancing prenatal care. "We must educate all expectant and prospective mothers and do it thoroughly. Perfecting this is my lifelong professional mission," she says. Looking back, she now sees the impact: millions of families in China have access to safer, more reliable prenatal screening, transforming maternal healthcare.

About NIFTY®

NIFTY® offers screening for some of the most common trisomies present at birth, including trisomy 21 (Down Syndrome), trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau Syndrome). NIFTY® also provides testing options for sex chromosomal aneuploidies, chromosomal deletions/duplications and gender.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.