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) and microdeletions causing 22q11.2 deletion (DiGeorge or velocardiofacial [VCFS] syndrome). Testing may be offered to pregnant women with singleton or monozygotic twin pregnancies from 9 weeks 0 days gestation to term. Test is not recommended for women who are carrying dizygotic twins, triplets, or higher-order multiples, who have a known twin demise, who have used an egg donor, who are surrogates not using their own egg, 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) and certain specific microdeletion syndromes (see current list of microdeletion syndromes listed under "Ordering Recommendations"). This is a screening test to help identify fetuses at risk for Down syndrome, trisomy 18, trisomy 13 and Turner syndrome, as well as fetuses affected with the specified microdeletion syndromes listed. This test should not be considered diagnostic. All positive results should be confirmed by amniocentesis or CVS.
|Component Test Code*||Component Chart Name||LOINC|
|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|
|2010354||22q11.2 deletion syndrome|
|2013131||Maternal Height (Inches)|
|2013135||Number of Fetuses|
|2013143||EER Fetal Aneuploidy w/22q11.2|
- cell free
- edward syndrome
- patau syndrome
- trisomy 21