Mediclinic offers genetic screening services through its precision medicine service, Mediclinic Precise. Of particular interest to our female patients may be:
NIPT
What is it?
NIPT stands for Non-Invasive Prenatal Testing, which is a blood test that screens for certain chromosomal abnormalities in a developing fetus. The test analyses cell-free DNA (cfDNA) fragments that circulate in the pregnant woman's blood, which come from the placenta and contain genetic material from the developing fetus.
Why is it important?
The test is highly accurate in detecting Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13), as well as other chromosomal abnormalities. However, it is important to note that NIPT is a screening test and not a diagnostic test, and a positive result will need to be confirmed with further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS).
One of the benefits of NIPT is that it is non-invasive, meaning it does not pose a risk of miscarriage or other complications to the developing fetus. The test is usually done between 10 and 22 weeks of pregnancy and results are typically available within a week.
Who is it for?
NIPT is typically recommended for pregnant women who are at higher risk of having a baby with chromosomal abnormalities, such as women who are over 35 years old, have a family history of genetic disorders, or have had abnormal results on other prenatal tests.
BRCA genetic testing
What is it?
BRCA genetic testing is a type of genetic test that looks for mutations in the BRCA1 and BRCA2 genes. These genes produce proteins that help prevent the development of certain types of cancer, including breast and ovarian cancer. The test is usually done using a sample of blood or saliva. The sample is analyzed in a laboratory to look for mutations in the BRCA1 and BRCA2 genes.
Why is it important?
Individuals who have inherited a mutated BRCA1 or BRCA2 gene have an increased risk of developing breast, ovarian, and other types of cancer. BRCA genetic testing can help identify individuals who may have an increased risk of developing these cancers.
Who is it for?
BRCA genetic testing is recommended for individuals who have a personal or family history of breast, ovarian, or certain other types of cancer. It is important to note that a positive result on BRCA genetic testing does not necessarily mean that an individual will develop cancer, and a negative result does not mean that an individual is completely protected from cancer. Mediclinic’s genetic counsellors can provide guidance on the benefits and limitations of BRCA genetic testing and help individuals make informed decisions about their healthcare.