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 allogenic bone marrow transplant.

Mnemonic
NIPTANEU22
Methodology

Targeted Sequencing with SNPs

Performed

Sun-Sat: Varies

Reported

12-14 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

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
Remarks

Patient History for Non-Invasive Prenatal Testing (NIPT) form required.

Stability

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

Reference Interval

By report

Interpretive Data

Refer to report. 

Compliance Category

Not Applicable

Note

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.

Hotline History
N/A
CPT Codes

81420; 81422

Components
Component Test Code* Component Chart Name LOINC
2008381 Trisomy 21 73966-4
2008382 Trisomy 18 73825-2
2008383 Trisomy 13 73824-5
2008386 Monosomy X 73821-1
2008430 Fetal Fraction
2008431 Report Fetal Sex? 8251-1
2008830 Triploidy/Vanishing Twin
2009259 Result Summary 48767-8
2009260 Gestational Age at draw (Weeks) 49051-6
2010002 Maternal Weight (Pounds) 8338-6
2010003 Gestational Age at draw (Days) 49052-4
2010004 Fetal Sex 11882-8
2010354 22q11.2 deletion syndrome
2013131 Maternal Height (Inches)
2013135 Number of Fetuses
2013143 EER Fetal Aneuploidy w/22q11.2
* 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.
Aliases
  • 22q
  • 45X
  • cell free
  • cell-free
  • cellfree
  • cfDNA
  • cffDNA
  • DiGeroge
  • edward syndrome
  • Natera
  • NIPD
  • Panorama
  • patau syndrome
  • T13
  • T18
  • trisomy 21
Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion

Natera