Ordering Recommendation

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

This test is New York state approved.

Specimen Required

Patient Preparation

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.

Specimen Preparation

Transport 20 mL maternal blood in Cell-Free DNA BCT tube. (Min: 16 mL)

Storage/Transport Temperature

Room temperature.

Unacceptable Conditions

Patient history form is required prior to testing.


Ambient: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable






12-14 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

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.

Hotline History


CPT Codes

81420; 81422


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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • 22q
  • 45X
  • cell-free
  • cellfree
  • cfDNA
  • cffDNA
  • DiGeorge
  • edward syndrome
  • Natera
  • NIPD
  • Panorama
  • patau syndrome
  • T13
  • T18
  • trisomy 21
Fetal Aneuploidy Screening with 22q11.2 Microdeletion