Genetic disorders mostly result into changes in genes affecting many body systems and mostly cannot be treated. Most of these disorders cannot change the underlying genetic mutation but certain definitely can demand for lifelong treatment by gene therapy. In case of fetal stage, such severe mutations can cause miscarriage and still born. Hence it becomes extremely important to provide screening methods to identify gene mutation and go through genetic counselling. One such screening method is cell-free fetal DNA screening. It is one of the most effective way in detecting chromosomal disorders such as such as down syndrome, trisomy of chromosome 18,13, 16, 22. It also helps in the detection of sex chromosome aneuploidy, triploidy, chromosome deletion and single-gene disorders. Apart from that it also helps in sex determination.
So, in this process of non-invasive prenatal screening, DNA from the mother and fetus is extracted from a maternal blood sample and screened. Any woman who is at least ten weeks pregnant can go for this screening method. This method is often effective in detection of chromosomal disorders except for cases like obesity in mother, pregnancy less than 10 weeks and if the mother takes blood thinners. The test results often come as positive or negative, or at high risk or low risk of chromosomal abnormality. Sometimes the test reports do not come properly due the less availability of DNA in the sample otherwise the reports come fine. After screening the most important thing is diagnosing the disorder if the report shows high risk of chromosomal abnormality. It is recommended to go for further testing like amniocentesis. As the chromosomal abnormalities cannot be corrected and if the fetus shows high risk of chromosomal abnormalities, the decision lies in the hands of the parents to continue the pregnancy and decide what steps they can take to help the child once born. Apart from them, it is always advised to parent to contact genetic counselling to help them learn more about these disorders and decide on having a child.