High-level screening for pregnant women (9w0d-term) at increased risk for having a fetus with specific chromosomal aneuploidies. Disorders screened for include
• Trisomy 13 (T13)
• Trisomy 18 (T18)
• Down syndrome (trisomy 21 or T21)
• Turner syndrome (TS)
• Sex chromosome aneuploidies (XXX, XXY, XYY)
Also screens for fetal sex (optional).
- Patient Preparation
- Whole blood in Cell-Free DNA BCT Tube. All specimens must be collected using the NIPT ANEU kit (ARUP Supply #50223). Available online through eSupply or contacting ARUP Client Services at (800) 522-2787.
Required Specimen: Maternal specimens must be collected in 2 Cell-Free DNA BCT tubes.
- Specimen Preparation
- Transport 20 mL maternal blood in Cell-Free DNA BCT Tube (ARUP Supply #50223) . (Min: 16 mL) Available online through eSupply or contacting ARUP Client Services at (800) 522-2787.
- Storage/Transport Temperature
- Room temperature.
- Unacceptable Conditions
- Patient History and Informed Consent for Non-Invasive Prenatal Testing (NIPT) form required. Testing utilizes a single-nucleotide polymorphism (SNP)/ informatics-based approach to detect fetal copy number for the five chromosomes responsible for the majority of live-birth aneuploidies (chromosomes 13, 18, 21, X, Y, and triploidy). This is a screening test to help identify fetuses at risk for Down Syndrome, trisomy 18, trisomy 13 and Turner Syndrome. This test should not be considered diagnostic. It is recommended that any positive result should be confirmed by amniocentesis or CVS.
- Ambient: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable
|Component Test Code*||Component Chart Name||LOINC|
|2007538||EER Non-Invasive Prenatal, Aneuploidy||11526-1|
|2008431||Report Fetal Sex?||8251-1|
|2009260||Gestational Age at draw (Weeks)||49051-6|
|2010002||Maternal Weight (Pounds)||8338-6|
|2010003||Gestational Age at draw (Days)||49052-4|
- edward syndrome
- patau syndrome
- trisomy 21
Performed at Natera