What is NIPT?
Non-invasive prenatal testing (NIPT), sometimes called non-invasive prenatal screening (NIPS), is a genetic test that helps identify babies that are at an increased risk for genetic conditions. NIPT uses cell-free DNA to screen for chromosomal and genetic diseases in babies. Cell-free DNA comes from the placenta and is present in the blood stream. DNA is the genetic instructions for our bodies to develop, grow, and function. DNA or genetic material is packaged into chromosomes. NIPT screens for common chromosomal conditions, like Down Syndrome.
Chromosomal Conditions
Most chromosomal conditions are caused by an extra or missing chromosome in the baby. The conditions typically occur randomly when sperm or egg are created. They are not inherited from a parent. Every pregnancy carries a small risk of having chromosomal condition which is why this test is recommended to all pregnant people. Because our chromosomes carry all our genetic information, having too much or too little genetic information can cause diseases. Some common chromosomal conditions screened for include Down syndrome (trisomy 21 – 3 of the 21st chromosome), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Turner syndrome (monosomy X), and more.
What about carrier screening?
Carrier screening is a genetic test that determines if you are a carrier of an inherited (genetic) condition. Being a carrier means that you have a change in a gene that makes it not work the same. Carriers normally do not have symptoms, but their children can be at risk if the child’s other parent is also a carrier.
Carrier screening typically looks for conditions that are known as autosomal recessive, meaning that you need two nonfunctional copies of the gene to have the disease. We are all born with two copies of each gene, one from each parent. Someone who is a carrier has one functioning copy and one nonfunctioning copy. The functioning copy is enough to prevent that person from having symptoms. There often is not any family history of the recessive condition which is why carrier screening is recommended for everyone wanting to have children. Carrier screening can be done before or during pregnancy.
Why get genetic testing?
These tests help us learn more about risks to a pregnancy and baby’s health. Knowing this information can help you make pregnancy decisions and might change your pregnancy management. While we cannot change a baby’s genetics, we can increase screening and sometimes initiate treatments before birth. It may also influence where you choose to deliver your baby.
About the Author
Margaret Erpelding, CGC
Margaret Erpelding, CGC, is a Certified Genetic Counselor at Minnesota Women’s Care, specializing in reproductive, prenatal, and cancer genetics. She provides personalized, patient-centered guidance to help individuals and families better understand genetic risks, screening results, and testing options.
Margaret works closely with patients during pregnancy planning, following abnormal screening results, and when evaluating family history of genetic conditions. She is known for her clear, compassionate approach, helping patients feel informed and confident in their decisions.
If you or someone you know is interested in genetic counseling or has questions about genetic testing, call 651-600-3035 or click Book Now.