Researchers develop new screening technology to test genetics of fetuses

Chinese researchers have developed an innovative, comprehensive, and non-invasive prenatal screening technology to screen different types of genetic variants in fetuses through the tests of cell-free DNA in the plasma of pregnant women.

A paper about the study, which was conducted jointly by researchers from Fudan University's Institute of Reproduction and Development in Shanghai, Zhejiang University, and the Hunan Provincial Children's Hospital, was published on the website of the journal Nature Medicine on Monday. Huang Hefeng, an academician with the Chinese Academy of Sciences and a researcher with the Institute of Fudan was a leading researcher on the team.

Such a breakthrough, which just involves collecting blood from pregnant women once, is expected to realize more precise prenatal and perinatal management, said the researchers.

Experts explained that single-gene disorders, such as Rett syndrome, may not show any symptoms before birth and may not be detected even with a prenatal ultrasound. Some others, such as achondroplasia, may not be detected by ultrasound until the middle or final trimester. In their clinical study, comprehensive screening of cell-free DNA proved to detect fetal pathogenic variants in the first trimester before symptoms are manifested, which is critical for clinical decision-making, the researchers said.

Altogether 1,090 pregnant women participated in the clinical study. Those found with fetuses suffering from diseases with severe outcomes, early onset, prevalent incidence, and mature detection methods were first included in the study, which later expanded to ordinary pregnant women.