Non-invasive prenatal examination has made a breakthrough again. Whether the fetus has genetic diseases can be checked by drawing blood after 6 weeks of pregnancy.

　　Science and Technology Daily, Beijing, January 5 (Reporter Nie Cuirong) The latest issue of Clinical Chemistry in the United States published the research results of Zhao Huijun, a professor at the School of Medicine of the Chinese University of Hong Kong: A variety of single-gene mutations inherited from parents can be detected by taking blood from pregnant women, and some mutations can even be detected as early as 6 weeks of pregnancy. Professor Zhao Huijun said in an interview with reporters on the 5 th that the new detection method is not only safer, but also greatly simplified in operation. Almost all hospitals with molecular analysis experience can carry out it, and the test results can be obtained after one or two weeks of blood drawing.

　　At present, about one in every 100 newborns carries genetic variation. Zhao Huijun’s team has developed a non-invasive prenatal examination technology (NIPT), which can replace amniocentesis technology and directly screen Down syndrome through pregnant women’s blood samples. This technology has been used in more than 60 countries.

　　In addition to Down syndrome, genetic diseases such as muscular dystrophy and Huntington’s chorea can help expectant mothers choose whether to terminate their pregnancy. Some fatal diseases, such as sickle cell anemia, hemophilia and cystic fibrosis, can also be treated in time, such as congenital adrenal hyperplasia, which can be prevented by cholesterol treatment before 9 weeks of pregnancy. Thalassemia can be completely cured by blood transfusion immediately after birth. "In the future, some genetic variants can even be treated in utero with gene therapy." Zhao Huijun said.

　　In the latest research, Zhao Huijun’s team expanded the previous Down’s blood test screening technology, which can theoretically detect any single gene variation within 6 weeks to 10 weeks of pregnancy. They used linkage identification sequencing technology to obtain haploids of both parents, then detected single nucleotide polymorphisms (SNPs) in pregnant women’s blood, and finally used their developed relative haploid dosimetry (RHDO) to infer whether the fetus inherited a genetic variation. In the experiment involving 13 families, the new technology successfully detected fetal genetic variation in 12 of them, with very high accuracy.

　　The new detection technology will be first used for couples with a family history of genetic diseases, but Professor Zhao Huijun hopes to extend it to the general prenatal screening procedure soon. Andrew Maclennan, a famous Australian production inspection expert, also said: "The new technology market has great potential."

　　Chief editor circle

　　 The greatness of a mother lies in extending her life. Morning sickness, childbirth, and body deformation can all survive or not care, but children must not make "mistakes" and grow up healthily. But there are a series of diseases, stained with the word "heredity", which suddenly makes new parents unable to be angry and full of self-blame. If we want to prevent genetic information from becoming a disease, it is best to know in advance, it is best to be non-invasive and painless, and it is best to operate simply. Thanks to Zhao Huijun’s team, they did it with the help of genetic testing technology.