Dr. Tseng, Min-Hua and her team at Linkou Chang Gung Memorial Hospital have developed a rapid and accurate prenatal genetic screening technique that effectively detects gene defects leading to autosomal recessive renal tubular dysgenesis. This advancement offers more comprehensive prenatal screening for pregnant women in Taiwan, helping to reduce neonatal mortality rates.

High Incidence of Autosomal Recessive Renal Tubular Dysgenesis Necessitates Widespread Screening

Autosomal recessive renal tubular dysgenesis is a rare hereditary kidney disease characterized by symptoms such as hypotension, renal failure, and pulmonary hypoplasia, with a very low survival rate. Research shows that the carrier rate of the disease-causing gene in Taiwan is as high as 1%, indicating that the prevalence of this disease has been underestimated. Therefore, prenatal genetic screening is crucial for preventing this condition. However, existing screening methods are time-consuming and costly, limiting their widespread use.

Blood Test Simplifies Genetic Screening Process

The new genetic screening technology employs innovative TaqMan qPCR technology, combining specific primers and probes to precisely target and amplify segments of the AGT gene. By detecting whether there are single or double deletions in large segments of the AGT gene, this method can quickly determine whether the individual is a carrier or affected by autosomal recessive renal tubular dysgenesis.

The advantages of this technology include:

• Speed and Convenience: Requires only 3 milliliters of peripheral blood, completing the entire testing process within a few hours, significantly reducing wait times.
• Precision and Reliability: Clinically validated in a large-scale trial involving 5,000 healthy participants in Taiwan, showing 100% sensitivity and specificity.
• Efficiency: The high-throughput design using a 96-well plate allows for simultaneous testing of multiple samples, improving testing efficiency.
• Simplicity: The optimized testing process is straightforward and easy to understand, requiring no complex equipment.
• High Specificity: Specifically designed for AGT gene variant sites common in the Taiwanese population, making it well-suited to domestic clinical needs.

Promoting Healthy Births and Reducing the Burden of Genetic Diseases

Dr. Tseng emphasized that by identifying high-risk pregnant women for autosomal recessive renal tubular dysgenesis early on, comprehensive prenatal counseling and medical assistance can be provided, reducing the risk of neonatal illness. In the future, this technology could be integrated into routine prenatal checkups and expanded to premarital health screenings, helping to detect genetic defects early and informing family planning for healthier pregnancies. Additionally, the successful development of this technology offers insights for genetic screening of other hereditary diseases, potentially driving advancements in genetic testing technologies.

Resource (mandarin): 產前基因快篩鎖定關鍵片段缺陷 採血揪致命腎病！