GENETIC CARRIER SCREENING
From the Natera Academy. Link to Document
What is Carrier Screening?
Carrier screening is a genetic test that determines your chance of passing on a genetic condition to your baby. Carrier screening...

- Is available to everyone either before or during pregnancy
- Typically only requires a routine blood draw
- Is done for your partner if your results show you are a carrier
What does it mean to be a carrier?
Carriers are typically healthy, but they could have a baby with the genetic condition they carry.


Why get carrier screening?
Many genetic conditions benefit from early medical treatment. Knowing your baby might have a condition can help you...
- Identify a specialized care team to plan for delivery and early treatment options.
- Connect with families of children with the same condition.
- Plan for medical expenses and supplemental insurance.
- Understand risks and options for the future.
What happens after carrier screening?


What is Non-Invasive Prenatal Testing?
Non-Invasive Prenatal Testing, or NIPT, is a blood test performed during pregnancy that...

- Tells whether your baby has a high or low chance of having certain chromosomal conditions, along with providing your baby’s sex.
- Can screen for Trisomy 21 (Down syndrome), along with other chromosomal conditions that involve intellectual disability and health complications that may require medical intervention and shorten lifespan.
What is a Chromosomal Condition?
DNA contains the genetic information that tells our bodies how to function. Chromosomes are the packages that store DNA in our cells. A person usually has 46 chromosomes grouped into 23 pairs. One chromosome in each pair comes from each parent.
- Chromosomal conditions occur when there is an extra or missing chromosome
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Chromosomal conditions are not usually inherited and occur by chance at conception

Why choose NIPT?
NIPT is an accurate, non-invasive way to determine your baby’s chance of having common chromosomal conditions.


How does NIPT compare with other prenatal chromosome tests?
NIPT
- Blood test evaluating DNA, no risk to baby
- Performed as early as 9 weeks of pregnancy
- Most accurate and comprehensive screening test
Maternal Serum Screening
- Blood test measuring hormones, no risk to baby
- Performed only at specific times in 1st or 2nd trimester
- High false positive rate, misses more at-risk pregnancies
Diagnostic Testing (CVS or Amniocentesis)
- Invasive procedure, small risk of miscarriage
- Performed typically between 12-20 weeks of pregnancy
- Definitive and comprehensive results
COST ESTIMATE
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