Recently, Huang Hefeng, an academician of the CAS Member and a team from the Obstetrics and Gynecology Hospital affiliated to Fudan University, developed a new non-invasive prenatal screening (NIPT) method, which for the first time achieved simultaneous screening of chromosome diseases and monogenic diseases, and significantly improved the detection performance of non-invasive prenatal screening for target diseases. Relevant research papers were published online in the journal Cell Discovery recently. Birth defect refers to the abnormality of body structure, organ function or metabolism before birth, which is an important cause of death and disability of newborns and infants. The 2010 global burden of disease study showed that 6.4% of newborn deaths were attributed to birth defects, ranking fifth among all causes of death. In recent years, with the continuous improvement of the birth defect prevention and control system in China, the three-level prevention and control measures have been implemented in depth, and the prevention and control of birth defects has achieved certain results. However, due to the large population base in China, there are still about 100,000 new birth defects every year. Non invasive prenatal screening can strangle chromosomal diseases in the "cradle". Since the 1960s, doctors have used amniocentesis to extract amniotic fluid from the uterus for Down's syndrome testing. However, this kind of invasive prenatal testing not only needs to be conducted in specific medical institutions and operated by professional doctors, but also brings a certain risk of abortion or intrauterine infection. It is not suitable for large-scale universal screening of pregnant women. In the 1970s, researchers found that the concentrations of pregnancy related plasma protein A and alpha fetoprotein in maternal peripheral blood were related to the risk of Down syndrome. Subsequently, researchers began to use these serological indicators to screen Down's syndrome, that is, the "serological down screen" in early or middle pregnancy. However, serological Tang screening also has obvious defects - the false positive rate is very high. Serological screening revealed that about 40% of high-risk fetuses were normal. Therefore, the parturients diagnosed as high risk of Tang screening also need amniocentesis for further prenatal diagnosis, which increases the risk associated with invasive procedures. In 1997, Professor Lu Yuming of the Chinese University of Hong Kong found that fetal genetic material DNA existed in maternal plasma, which made it possible to use fetal free DNA in maternal peripheral blood to screen fetal genetic diseases; In 2008, non-invasive prenatal screening based on high-throughput sequencing began to transform to clinical practice, and a stable and mature detection system was soon formed; In 2011, non-invasive prenatal gene detection technology began to be clinically applied and rapidly popularized in the world. In 2016, the former National Health and Family Planning Commission issued the Technical Specifications for Prenatal Screening and Diagnosis of Free DNA in Pregnant Women's Peripheral Blood and Fetus, which stipulated the scope of application of non-invasive prenatal testing technology, clinical service process, testing technology process and other contents. In addition to Down's syndrome, non-invasive prenatal screening can also screen trisomy 18 and trisomy 13 simultaneously. All three are chromosomal diseases. In the same year, the upgraded non-invasive prenatal screening technology "non-invasive Plus" began its clinical application, which increased from screening 3 diseases to screening about 100 diseases. "Non invasive Plus" can not only screen the number variation of autosome and sex chromosome, but also screen chromosome microdeletion and microduplication syndrome. Monogenic disease