Pregnancy
Pregnancy is a dynamic time. Several tests are available in your first and second trimesters to provide information about the genetic health of your developing baby.
This video reviews and compares screening and testing options for Down syndrome and other chromosome abnormalities.
NIPT
Noninvasive prenatal tests (NIPT) can screen for trisomy 21 (Down syndrome) and other chromosomal abnormalities—as well as the sex of your baby—as early as nine weeks into your pregnancy, and with a high degree of accuracy. Labcorp offers three NIPTs.
GENOME-Flex, a new NIPT high risk pathway. Rapidly re-sequence previously run MaterniT 21 PLUS samples using MaterniT GENOME when late stage anomalies are suspected. Now you have options if a second NIPT is required.
This video explains what your MaterniT results mean and what next steps or other testing you might consider.
Maternal serum screening tests estimate the chance that your baby could have Down syndrome, trisomy 18 or open neural tube defects, leading to the detection of about 80% to 90% of babies with these birth defects, depending on the particular test your doctor uses and how far along you are in your pregnancy.
Similar to NIPT, a positive serum screen can be confirmed with a diagnostic test. As with NIPT, we offer choices.
Diagnostic procedures (such as amniocentesis and CVS, chorionic villus sampling) are used to test for chromosomal abnormalities, open neural tube defects, and/or specific inherited diseases.
We also offer pediatric diagnostic testing to analyze chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays.
This video explains the option of prenatal microarray testing and how it can provide valuable information about your baby's health.
Understanding the difference
You may choose to have NIPT, a serum screening test, a diagnostic test, a combination of the tests, or no testing at all. Here are the most important differences between the tests:
NOTE: The American College of Obstetricians and Gynecologists recommends that women with a “high risk” maternal serum screening result be offered diagnostic testing.1 Women with a “low risk” result often choose not to have diagnostic testing.
NOTE: Not even diagnostic testing can show all birth defects or genetic diseases. No test is perfect: even when all the results of diagnostic testing are normal, all pregnancies still have approximately a 3-5% risk of birth defects.
While NIPTs, serum screening, and prenatal diagnostic testing indicate the genetic health of your baby, carrier screening is different, as it detects the carrier status of you and your partner, and helps to determine if there’s any risk of passing on a genetic disorder, such as cystic fibrosis (which affects about 1 in 3,500 babies born in the US).2
These tests are performed on a blood sample from your arm, and can either be performed prior to or during a pregnancy.