Noninvasive Prenatal Testing
Sema4 Noninvasive Prenatal Testing provides accurate insight into fetal health as early as 9 weeks gestation. It uses targeted genome counting to analyze genetic information of cell-free DNA (cfDNA) through a simple maternal blood draw. This test is available for singleton and multiple gestation* pregnancies, including those that are the result of in vitro fertilization (IVF), egg and sperm donation, and surrogacy.
Noninvasive Prenatal Testing screens for common chromosome aneuploidies, sex chromosome abnormalities, and microdeletions. It is available in four different panels: Standard, Standard with Sex Chromosome Aneuploidies (SCA), Standard Plus, and Expanded. Custom panels may also be available if you would like to order a subset of the conditions listed below. Please contact the Sema4 lab to discuss. Patients can also opt to learn fetal sex as early as nine weeks into pregnancy.
Four testing options are available:
- Standard: Trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome)
- Standard with Sex Chromosome Aneuploidies (SCA): Trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), monosomy X (Turner syndrome), Trisomy X (XXX), XXY (Klinefelter syndrome), and XYY syndrome
- Standard Plus: Trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), trisomy 15, trisomy 16, trisomy 22, monosomy X (Turner syndrome), Trisomy X (XXX), XXY (Klinefelter syndrome), and XYY syndrome
- Expanded: Trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), trisomy 15, trisomy 16, trisomy 22, monosomy X (Turner syndrome), Trisomy X (XXX), XXY (Klinefelter syndrome), XYY syndrome, 22q11.2 deletion, 1p36 deletion, 4p16 deletion (Wolf-Hirschhorn syndrome), 5p15 deletion (Cri-du-chat syndrome), 15q11.2-q13 deletion (Prader-Willi or Angelman syndrome), 11q23 deletion (Jacobsen syndrome), and 8q24 deletion (Langer-Giedion syndrome)
Noninvasive Prenatal Testing uses paired-end next-generation sequencing technology to provide higher depth across targeted regions. Additionally, it uses a laboratory-specific statistical model to help reduce false positive and false negative rates. Noninvasive Prenatal Testing is >99% sensitive and specific for common chromosome aneuploidies. For additional information about the sensitivity and specificity of this test, please see the Noninvasive Prenatal Testing brochure. Reports for Noninvasive Prenatal Testing also include personalized positive predictive value (PPV) for more accurate insight into risk based on maternal age or fetal fraction.
Noninvasive Prenatal Testing has a pre-analytical failure rate of <1% and results are reported down to 2% fetal fraction. Low rates of test failure may reduce the number of redraws, overall time required to obtain reliable results, and unnecessary invasive procedures.
Please note that a negative test result does not ensure an unaffected pregnancy. Sema4 Noninvasive Prenatal Testing is only intended to screen for specific chromosomal abnormalities. Noninvasive Prenatal Testing is a screening test that comes with a risk of false positives. All positive results should be confirmed by chorionic villus sampling (CVS) or amniocentesis. Pregnancy management decisions should not be based on the results of cell-free DNA screening alone.
- Two 10 mL Streck BCT tubes of maternal blood
- Tubes of blood should be stored and shipped at room temperature
- Specimens must be received by our lab within 5 days of the blood draw
- 1 week from receipt of specimen
Noninvasive Prenatal Testing patient brochure
Noninvasive Prenatal Testing provider brochure
Noninvasive Prenatal Testing clinical information sheet
Prenatal test requisition, including carrier screening and Noninvasive Prenatal Testing
*For multiple gestation pregnancies, only the Standard Panel is available.