First- or second-tier screening test for the most common fetal aneuploidy disorders (trisomy 13, trisomy 18, trisomy 21 [Down syndrome], Turner syndrome, sex chromosome aneuploidies [XXX, XXY, XYY], triploidy). Testing may be offered to pregnant women with singleton or twin pregnancies from 9 weeks 0 days gestation to term. Test may also be ordered for women who have used an egg donor or for surrogate pregnancies. Test is not recommended for women carrying triplets or higher-order multiples, who have a known twin demise, who are carrying twins and used an egg donor/surrogate, or who have had an allogenic bone marrow transplant.
Targeted sequencing with SNPs
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.
Transport 20 mL maternal blood in Cell-Free DNA BCT Tube (ARUP Supply #50223) available online through eSupply or contacting ARUP Client Services at (800) 522-2787. (Min: 16 mL)
Patient History for Non-Invasive Prenatal Testing (NIPT) form required.
Ambient: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable
Refer to report.
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.
|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