Non-invasive prenatal screening developed

Local medical doctors led a study to provide a non-invasive prenatal cell-free DNA screening for the fetus' genetic condition.

Prenatal screening is essential for detecting congenital defects. The current non-invasive prenatal testing technique focuses on chromosomal diseases and is unable to detect single-gene problems.

Single-gene disorders are responsible for up to 12 percent of all inborn deformities. Experts believe that incorporating single-gene disorders into prenatal screening is critical for improving the service.

Dr Huang of University's Obstetrics and Gynecology Hospital collaborated with experts from and Hunan provinces to develop an innovative prenatal technology that tests cell-free DNA in pregnant women's plasma to achieve a more complete screening for fetus-inherited defects, filling the gap in single-gene disorder detection and realizing more precise prenatal and perinatal management.

To assess the new technology's efficacy and accuracy, specialists conducted a one-year clinical trial that included 1,090 pregnant women. In total, 135 people were found to have genetic abnormalities during prenatal or postnatal checks. The cell-free DNA technique detected 98 genetic diseases in 876 fetuses suspected of having structural abnormalities.

"The experiment indicates that incorporating both single-gene diseases and chromosome abnormalities in prenatal screening can boost detection rates by 60.7 percent while also providing more essential data and evidence for genetic disorders.

"Moreover, we discovered that cell-free DNA technology has a significant role in identifying sick fetuses who do not exhibit symptoms in the early stages of pregnancy or who have nerve defects that are difficult to image," Huang said.

According to the study, 13 of the 37 fetuses with single-gene disease had genetic mutations associated with nervous system injury, which can cause learning difficulties, slow development, and intelligence disorders. However, such fetuses did not exhibit brain or central nervous system disorders during prenatal imaging.

"It means cell-free DNA technology has significant effects on accurately identifying high-risk chromosome and single-gene disorders through safe and accurate testing," said Huang.

The findings were published in the Nature Medicine journal.