The reporter learned on January 28 that Huang Hefeng, an academician of the CAS Member and president of the Institute of Reproduction and Development of Fudan University, Zhang Jinglan and Xu Chenming, researchers of the Institute, together with Zhang Dan, a professor of Zhejiang University, Wang Hua, a professor of Hunan Children's Hospital/Hunan Maternal and Child Health Institute, and other researchers, found that the use of comprehensive non-invasive prenatal screening technology to detect free DNA in maternal plasma (i.e., cfDNA comprehensive screening) can screen three major human genetic variations, namely chromosome aneuploidy, chromosome microdeletion, and single gene pathogenic variation, at the same time, raising the detection rate of non-invasive screening for fetal genetic diseases by 60.7%. The relevant results have recently been published in the international medical journal Nature Medicine. Among newborn birth defects, monogenic diseases account for approximately 7.5-12%. However, the current non-invasive prenatal screening mainly covers chromosomal abnormalities related diseases, such as chromosomal aneuploidy and chromosomal microdeletion/microduplication syndrome, and does not include monogenic diseases. In order to validate previous studies and include monogenic diseases in non-invasive prenatal screening, the research team initiated a multicenter prospective observational study comparing the cfDNA comprehensive screening results of 1090 participants with prenatal or postpartum diagnostic results. The team found that cfDNA comprehensive screening detected genetic variations in 135 pregnant women. Among 876 fetuses suspected of structural abnormalities through ultrasound screening, 55 cases of chromosomal aneuploidy, 6 cases of chromosomal microdeletions, and 37 cases of single gene pathogenic variations were found. Research has confirmed that cfDNA comprehensive screening can simultaneously include single gene diseases and chromosomal abnormalities in screening, expanding the detection range of non-invasive prenatal screening, and improving the detection rate of fetal genetic diseases by 60.7%, enhancing the accuracy of detection. The study also indicates that cfDNA comprehensive screening has advantages in screening for asymptomatic diseases such as fetal chondrodysplasia in early pregnancy, as well as neurological defects that are difficult to detect using imaging methods. In order to expand the application scope of this screening technology, the team proposed a clinical priority system for the application of this technology, that is, focusing on diseases with severe phenotype, early onset, high incidence rate and high detection methodology performance. "The biggest innovation of this research is that the single gene disease has been included in the scope of non-invasive prenatal screening. This has significantly improved the detection rate of fetal genetic diseases, and is an important breakthrough in the prevention and treatment of genetic diseases and birth defects." commented Qiao Jie, an academician of the CAE Member, the executive vice president of Peking University and director of the medical department. (Lai Xin She)