As An Expecting Mother, There Are Three Testing Options You Would Need To Consider:
1) To have no prenatal genetic screening or testing before your baby is born.
2) To have prenatal genetic screening during your pregnancy. If the screening test results come back as high risk for a genetic condition, to consider diagnostic testing such as chorionic villus sampling, also known as CVS or amniocentesis.
3) To bypass prenatal genetic screening and have diagnostic testing which would be CVS or amniocentesis.
Non-Invasive Prenatal Screening or Cell Free DNA Screening: – A Screening Option:
Non-Invasive Prenatal Screening (NIPS) is an optional blood test that can be performed any time after 10 weeks of pregnancy.
NIPS can tell you the chance or risk your developing baby has for:
Down syndrome or trisomy 21
Trisomy 18 and 13
Sex chromosome disorders
Genetic conditions related to copy number changes such as 22q microdeletion syndrome
NIPS can also predict the gender of your baby in most cases, if you choose to know
How Does NIPS Work?
Our blood contains fragments of our DNA known as cell free DNA.
When a woman is pregnant, her blood will also contain DNA fragments or pieces from the placenta which has a genetic makeup that is usually identical to that of her developing baby.
By analyzing these DNA fragments in Mom’s blood, it can be determined if the baby has an increased or decreased chance for certain genetic conditions.
What Can NIPS Tell Me About My Pregnancy?
NIPS is a screening test that can tell you if your pregnancy is at a higher or lower risk for certain genetic conditions.
Because NIPS is a screening test and not a diagnostic test, it cannot give you yes or no answers.
If your NIPS test results come back as low or decreased risk, the chance that your baby has the condition is lower, but not zero.
If NIPS results come back as high or increased risk, this may create worry and uncertainty about what to do next.
If your NIPS results come back as high risk, then you will need to consider follow up diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis.
Your doctor may refer you to a Genetic Counselor who will discuss your test results with you.
What Is Diagnostic Testing?
Diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis can tell for certain whether or not a genetic condition is present in your baby by direct testing of your developing baby’s DNA.
CVS and amniocentesis are invasive procedures where your doctor will insert a very fine needle into your abdomen to collect cells for DNA analysis.
These procedures present some risk to the pregnancy including a small risk of miscarriage.
The risk of miscarriage from diagnostic testing is 1 miscarriage in every 300-500 procedures.
So How Do You Decide Whether To Have NIPS Or Any Prenatal Genetic Testing?
The decision to undergo any prenatal genetic test is a personal choice and may be very different from that of your friend or relative, and that’s ok.
In most cases, the best way to make a decision about whether NIPS is right for you is to be informed about the test advantages and limitations.