Detection of Fetal Chromosomal Abnormalities By collecting cell – free DNA from the peripheral blood of pregnant women, non – invasive prenatal testing (NIPT) of fetal chromosomes can be carried out. For example, it can detect whether the fetus has chromosomal numerical abnormalities such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. This testing method can be performed in the early stages of pregnancy (usually around 10 weeks of gestation). Compared with traditional invasive examinations such as amniocentesis and chorionic villus sampling, it greatly reduces the risks to both the pregnant woman and the fetus, and also has high accuracy.
Fetal Gender Identification (in specific medical situations) In the diagnosis of some sex – related genetic diseases, such as certain X – linked genetic diseases, determining the fetal gender is necessary to assess the disease risk. Cell – free DNA collection tubes can be used to collect the blood of pregnant women, and the fetal cell – free DNA in it can be detected to determine the fetal gender, providing a basis for subsequent diagnosis and treatment plans.
Tumor Diagnosis and Monitoring
Early Tumor Screening Cell – free DNA in the blood contains DNA fragments released by tumor cells. These tumor – derived DNAs (ctDNAs) have tumor – specific gene mutations or methylation changes. By detecting these markers, early screening for various tumors can be carried out, such as lung cancer, breast cancer, and colorectal cancer. For example, for high – risk populations of lung cancer, regularly collecting blood samples to detect ctDNA can help detect early signs of lung cancer, thus improving treatment effectiveness and survival rates.
Assessment of Tumor Treatment Efficacy During the treatment of tumor patients, such as surgery, chemotherapy, and radiotherapy, cell – free DNA collection tubes are used to collect blood, and the changes in the content of ctDNA are detected to evaluate the treatment efficacy in real – time. If the ctDNA level significantly decreases after treatment, it usually indicates that the treatment is effective. Conversely, if ctDNA persists or increases, it may suggest tumor recurrence or metastasis.
Monitoring of Tumor Recurrence For tumor patients who have received treatment, continuous monitoring of ctDNA in the blood is an effective means of recurrence monitoring. For example, in colorectal cancer patients after surgery, regular detection of ctDNA can detect tumor recurrence earlier than traditional imaging examinations, winning time for timely adjustment of treatment plans.
Monitoring of Organ Transplantation
Monitoring of Rejection Reactions After organ transplantation, the recipient’s immune system may have a rejection reaction to the transplanted organ. By collecting blood with cell – free DNA collection tubes and detecting the change in the proportion of donor – derived cell – free DNA (dd – cfDNA) in the recipient’s blood, rejection reactions can be detected in a timely manner. When the proportion of dd – cfDNA increases, it often indicates a risk of rejection, which helps doctors take early intervention measures, such as adjusting the dosage of immunosuppressive agents, to protect the function of the transplanted organ.
Monitoring of Infections Organ transplant patients are prone to infections due to long – term use of immunosuppressive agents. Collecting blood to detect the pathogen DNA in cell – free DNA can help diagnose infections caused by viruses, bacteria, fungi, etc., providing a basis for targeted anti – infection treatment.
II. Genetic Research Field
Population Genetics Research Cell – free DNA collection tubes can be used to collect blood samples from a large number of people to study gene frequencies, genetic diversity, and genetic structures in human populations. For example, by analyzing the cell – free DNA in the blood of people from different races or regions, we can understand human migration history, evolutionary processes, and gene exchange.
Disease Genetics Research
Search for Disease – related Genes When studying the genetic factors of complex diseases (such as cardiovascular diseases, neurological diseases, etc.), cell – free DNA collection tubes can be used to collect the blood of patients, and gene variations related to the diseases can be screened from it. These studies help to deeply understand the pathogenesis of diseases and provide targets for the development of new treatment methods and drugs.
Research on Gene – Environment Interactions By comparing the cell – free DNA in the blood of people with different environmental exposures (such as lifestyle, environmental pollution, etc.), the interactions between genes and environmental factors in the occurrence and development of diseases can be studied. For example, studying the differences in cell – free DNA related to lung cancer in the blood of smokers and non – smokers to explore the role of genes in the process of lung cancer induced by smoking.
III. Forensic Medicine Field
Individual Identification and Paternity Testing
Crime Scene Investigation Cell – free DNA is contained in biological samples such as bloodstains and saliva found at crime scenes. Using cell – free DNA collection tubes to collect these samples, individual identification can be carried out through DNA analysis techniques, helping to identify suspects or victims. For example, in some cases where there is no complete body (such as a dismemberment case), the cell – free DNA in blood or other biological samples may be a key clue to solving the case.
Paternity Testing By collecting the blood of suspected relatives, using cell – free DNA collection tubes to obtain the DNA in the samples, and performing genotyping and comparison, the paternity relationship can be determined. This method plays an important role in resolving family disputes, immigration, inheritance, and other issues involving paternity.