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Beyond traditional prenatal checkups: How does cffDNA change the health checkup during pregnancy?
As the advances of modern medicine, the technology of non-invasive prenatal detection continues to evolve, and the most eye-catching of the detection of free fetal DNA (cffDNA). cffDNA is fetal DNA that circulates freely in the maternal blood. This technology has great potential for pregnant women, especially older women. Through simple venous blood samples collection, doctors can detect the health status of the fetal chromosomes as early as possible. How can this change the pattern of pregnancy health checks?
Source and Characteristics of cffDNA
cffDNA is produced by placental trophoblast cells. Fetal DNA becomes broken when placental particles are released into the maternal blood circulation. These cffDNA fragments are about 200 base pairs in length, significantly smaller than fragments of maternal DNA. This size difference allows cffDNA to be distinguished from the parent DNA fragment.
About 11% to 13.4% of the cellular free DNA in the maternal blood is fetal source, and this ratio varies from pregnant woman to pregnant woman.
Detection methods and techniques
The key to discussing cffDNA lies in the application of different laboratory methods. Some major technologies include:
- Massively Parallel Shotgun Sequencing (MPSS)
- Targeted Massive Parallel Sequencing (t-MPS)
- Techniques based on single nucleotide polymorphisms (SNPs)
During the detection process, plasma samples will be centrifuged, and a standardized extraction and purification procedure can improve cffDNA output.
The highest cffDNA extraction amount can be obtained using reagents such as "QIAamp DSP Virus Kit", and the recovery rate of cffDNA can increase dramatically when formaldehyde is added.
Application of cfDNA
CffDNA analysis can be performed even in the early stage of pregnancy, which has a profound impact on the applications of gender identification, genetic disease screening, biological father identification, single-gene disease detection, etc.
Prenatal gender identification
Through cffDNA analysis, doctors can know the sex of the fetus early in pregnancy, which is especially important for risk assessment of certain X-link hidden diseases.
Embryonic Health Screening
For example, in screening for autologous chromosomal dominant or recessive monogenetic diseases, cffDNA can help detect risks of diseases such as cystic fibrosis and beta thalassemia, and the accuracy of these tests has gradually improved.
Study shows that the sensitivity of using cffDNA to detect Down syndrome reaches more than 99%, and the specificity reaches 99.9%.
Early Detection of Unhealthy Fetal Condition
With cffDNA analysis, doctors can assess fetal chromosomal abnormalities early, which is especially important in some high-risk pregnant women to allow early intervention.
Future Potential and Ethical Challenges
Although the application of cffDNA has great potential, it is also accompanied by discussions of some ethical issues, such as the moral challenges that may arise during genetic screening. With the advancement of technology, its application may become more and more common in the future, whether it is the detection of fetal genetic variation or the assessment of disease state.
In fact, the development of cffDNA technology may completely change the pattern of pregnancy health checks. Should we consider how to balance the scientific progress and ethical considerations of these technologies in the future?
