Fetal Aneuploidy Screening with 22q11.2 Microdeletion
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 allogeneic bone marrow transplant.
IMPORTANT: Monozygotic twin specimens will be run at Natera and reported through ARUP.
New York DOH Approval Status
Maternal whole blood in Cell-Free DNA BCT tube. A kit must be ordered prior to specimen collection (ARUP Supply #50223) available online through eSupply using ARUP Connect™ or by contacting ARUP Client Services at (800) 522-2787.
Transport 20 mL maternal blood in Cell-Free DNA BCT tube. (Min: 16 mL)
Patient history form is required prior to testing.
Ambient: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable
Refer to report.
Performed by non-ARUP Laboratory
Testing utilizes a single-nucleotide polymorphism (SNP)/informatics-based approach to detect fetal copy number for the five chromosomes responsible for most 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. Test should not be considered diagnostic. All positive results should be confirmed by amniocentesis or CVS.
|Component Test Code*||Component Chart Name||LOINC|
|3004766||Fetal Aneuploidy - Final Results Summary||48767-8|
|3004767||Fetal Aneuploidy - Fetal Sex||11882-8|
|3004768||Fetal Aneuploidy - Fetal Fraction|
|3004769||Fetal Aneuploidy - Trisomy 21||73966-4|
|3004770||Fetal Aneuploidy - Trisomy 18||73825-2|
|3004771||Fetal Aneuploidy - Trisomy 13||73824-5|
|3004772||Fetal Aneuploidy - Monosomy X||73821-1|
|3004773||Fetal Aneuploidy - Triploidy|
|3004774||Gestational Age at Time of Draw (weeks)||49051-6|
|3004775||Gestational Age at Time of Draw (days)||49052-4|
|3004776||Maternal Weight (pounds)||8338-6|
|3004777||Number of Fetuses|
|3004779||EER Fetal Aneuploidy Screen 22q11.2 del||11502-2|
|3004780||22q11.2 deletion syndrome|
|3004786||Report Fetal Sex||8251-1|
- edward syndrome
- patau syndrome
- trisomy 21