First- or second-tier screening test for the common fetal aneuploidy disorders: trisomy 13, trisomy 18, trisomy 21 (Down syndrome), Turner syndrome, sex chromosome aneuploidies (XXX, XXY, XYY), and triploidy; as well as microdeletions causing 22q11.2 deletion (DiGeorge or velocardiofacial [VCFS] syndrome), 1p36 deletion, Angelman, Prader-Willi, and cri-du-chat (5p-) syndromes. Testing may be offered to pregnant women from 9 weeks 0 days gestation to term. Test is not recommended for women who are carrying more than one fetus or have a known twin demise, patients who have used an egg donor, surrogates who have not used their own egg, or women who have had an allogenic bone marrow transplant.
- 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) available online through eSupply or contacting ARUP Client Services at (800) 522-2787. (Min: 16 mL)
- Storage/Transport Temperature
- Room temperature.
- Unacceptable Conditions
- Patient History for Non-Invasive Prenatal Testing (NIPT) form required.
- Ambient: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable
|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|
|2010475||del 1p36 syndrome|
|2010646||EER Fetal Aneuploidy w/Microdeletions|
- edward syndrome
- patau syndrome
- trisomy 21