Noninvasive prenatal testing (NIPT), also referred to as prenatal cell-free DNA screening, is a genetic screening technology that aims to detect common chromosomal abnormalities that may affect a baby’s health before he/she is born.
How Does Noninvasive Prenatal Genetic Testing Work?
Throughout pregnancy, cells belonging to the placenta break down and release fetal DNA into the mother’s bloodstream. After gestation week 9, roughly 3-13 percent of all cell-free DNA in the mother’s bloodstream derive from the placenta. Noninvasive prenatal genetic testing involves collecting a blood sample from the mother. Cell-free DNA is then isolated and analyzed for fetal DNA abnormalities.
Noninvasive prenatal genetic testing is a screening procedure. This means that results derived from this test will indicate the risk that the fetus may have a chromosomal abnormality. To obtain a diagnosis, a prenatal diagnostic test will need to be performed.
What Does Noninvasive Prenatal Genetic Testing Screen For?
This test screens for the three most common trisomy disorders (trisomy 21, 18, and 13, also known as Down syndrome, Edwards syndrome, and trisomy 13 respectively) as well as other conditions that affect the health of the child.
When Can Noninvasive Prenatal Genetic Testing Be Performed?
Noninvasive prenatal screening can be performed as early as week 9 during pregnancy.
Who Should Consider Noninvasive Prenatal Genetic Testing?
Your doctor may recommend noninvasive prenatal genetic testing if you:
● Are of advanced maternal age of 35 years or older
● Have previously given birth to a baby with a trisomy chromosomal disorder
● Show abnormal results from an ultrasound screening
● Receive abnormal results from a first-trimester screening blood test
What are the Benefits of Noninvasive Prenatal Genetic Testing?
Results from a noninvasive prenatal genetic test can provide expecting parents crucial information that allows them to make more informed decisions regarding prenatal care. For example, a positive prenatal screening result may indicate the need for further testing in order to obtain a diagnosis, or that the child’s health should be monitored more closely throughout the remainder of the pregnancy.
Additionally, information acquired from this test may be relevant to future pregnancies. For example, if you have previously given birth to a child diagnosed with Down syndrome, your risk of having another child with this condition increases.
Are There Any Risks Associated with Noninvasive Prenatal Genetic Testing?
The nature of noninvasive prenatal genetic testing means that it can provide information without the risks associated with invasive prenatal diagnostic procedures.
Where Can I Learn More About Noninvasive Prenatal Genetic Testing?
If you’re interested in noninvasive prenatal genetic testing, talk to your doctor or with a genetic counselor. Genetic counselors are healthcare professionals specifically trained in medical genetics and counseling. These individuals will help you understand your risk of giving birth to a child with a chromosomal abnormality. They will present you with testing options that are relevant to your specific situation and will help you understand what the test results mean in terms of the health of your child and the need for further testing.