Fetal Aneuploidy Screening with Microdeletions
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 allogeneic bone marrow transplant.
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|
|3004780||22q11.2 deletion syndrome|
|3004782||EER Fetal Aneuploidy w/Microdeletions|
|3004783||Microdeletion - Prader-Willi syndrome||44617-9|
|3004784||Microdeletion - Cri-du-chat syndrome||73751-0|
|3004785||Microdeletion - Angelman syndrome||48024-4|
|3004786||Report Fetal Sex||8251-1|
|3004787||Microdeletion - del 1p36 syndrome|
- edward syndrome
- patau syndrome
- trisomy 21