informaSeq Prenatal Test
The informaSeq Prenatal Test looks at a blood sample to test a fetus for Down Syndrome, Edwards Syndrome, and Patau Syndrome.
informaSeq Prenatal Test Overview
informaSeq Prenatal Test is a non-invasive screening assay that can assess the risk for Down syndrome and other chromosome conditions.
informaSeq Prenatal Test assesses risk for trisomies of chromosomes 21, 18, and 13 in the fetus, but does not rule out all fetal abnormalities.
The test also offers an optional analysis for fetal sex and sex chromosome conditions. You and your doctor have the option to have additional testing such as informaSeq with Y analysis and informaSeq with X,Y analysis. informaSeq with X,Y analysis is not available for twin pregnancies.
This test can be administered as early as 10 weeks gestation.
informaSeq Prenatal Test can be ordered by a healthcare professional for women who are at risk. The test is not intended for use in women with multiple gestations besides twins.
What the results mean
informaSeq Prenatal Test assesses risk for trisomies of chromosomes 21, 18, and 13 in the fetus:
- Trisomy 21 is due to an extra chromosome 21 and is the most common trisomy at the time of birth. Trisomy 21 is also called Down Syndrome.
- Trisomy 18, also called Edwards syndrome, is due to an extra chromosome 18. Trisomy 18 is associated with a high rate of miscarriage. Infants born with trisomy 18 often have congenital heart defects as well as other medical conditions.
- Trisomy 13, also called Patau syndrome, is due to an extra chromosome 13. Trisomy 13 is associated with a high rate of miscarriage. Infants born with trisomy 13 usually have severe congenital heart defects as well as other medical conditions. Survival past the first year is rare.
If the informaSeq Prenatal Test does not show any chromosome abnormality, the chance of having a baby with trisomy 21, trisomy 18, and trisomy 13, is low. On the other hand, if the informaSeq Prenatal Test shows a chromosome abnormality or a chromosome abnormality is suspected, there is an increased chance of having a baby with trisomy 21, trisomy 18, and trisomy 13. In this case, your healthcare provider may offer genetic counseling. In addition, further testing such as, Chorionic villus sampling (CVS) and amniocentesis, can be ordered to determine if your baby is affected with one of these conditions.
Females typically have two X chromosomes (XX), and males have one X chromosome and one Y chromosome (XY).
informaSeq with Y analysis and informaSeq with X,Y analysis can assess risk for abnormalaties in the sex chromosomes such as:
- XXX : Triple X syndrome or called trisomy X
- XYY: Jacob’s Syndrome
- XXY (Klinefelter syndrome)
- Missing X chromosome: Turner syndrome
The severity of these conditions varies, but most individuals have mild, if any, physical or behavioral features or learning challenges.