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]). Testing may be offered to pregnant women with singleton pregnancies from 10 weeks gestation to term. Test may also be ordered for women who have used an egg donor or for surrogate pregnancies. Testing is not offered for women who have a known twin demise.

ARUP only performs testing on singleton pregnancies. Multiple gestation samples will be sent to Integrated Genetics for testing using the MaterniT21 PLUS Core (chr21,18,13) test; contact ARUP Client Services for submission requirements.

New York DOH Approval Status

This test is not New York state approved. Alternative testing that is New York approved is available. See Ordering Recommendations.

Specimen Required

Patient Preparation

Specimen must be collected at 10 weeks gestation or greater. Testing will be canceled for specimens collected at less than 10 weeks of gestation.


Black-and-tan top cell-free DNA BCT (Streck) Tube (ARUP Supply #56435) Available online through eSupply using ARUP Connect(TM) or contact ARUP Client Services at 800-522-2787.

Specimen Preparation

Transport 10 mL maternal whole blood (Min: 7 mL)
New York State Clients: Transport 20 mL maternal whole blood (Min: 16 mL)

Storage/Transport Temperature


Unacceptable Conditions

Ambient and frozen specimens.


Patient History and Consent forms for the Non-Invasive Prenatal Aneuploidy Screening Test (NIPT/NIPS) are available on the ARUP Web site or by contacting Client Services at 800-522-2787.


Ambient: Unacceptable; Refrigerated: 10 days; Frozen: Unacceptable.
New York State Clients: Ambient: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable


Massively Parallel Sequencing




5-7 days

Reference Interval


Interpretive Data

INTERPRETIVE INFORMATION: Non-Invasive Prenatal Aneuploidy Screen by cell-free DNA Sequencing
CHARACTERISTICS: This assay is a screening test that interrogates chromosomal abnormalities (i.e., aneuploidies) using cell-free DNA (cfDNA) extracted from the blood plasma of any singleton pregnancy. Patient risk for trisomy 13, trisomy 18, trisomy 21, and sex chromosome aneuploidies is reported. Fetal fraction, in conjunction with other data quality metrics, must be met in order for each sample to yield a result. The assay is intended for use as a screen only and is not equivalent to prenatal genetic diagnostic testing.
METHODOLOGY: Next Generation Sequencing (NGS) (aka Massively Parallel Sequencing (MPS)) of fetal and maternal cfDNA present in the plasma.

ANALYTICAL VALIDATION ACCURACY: The analytical sensitivity was calculated using positive percent agreement compared to established methods to detect fetal aneuploidy. For samples with greater than 5% observed fetal fraction, the positive percent agreements (PPA) are as follows: T13 greater than 99.9%, T18 greater than 99.9%, and T21 is 96.1%. The combined PPA for all aneuploidies is 97.5%. For samples with less than or equal to 5% observed fetal fraction, the positive percent agreements (PPA) are as follows: T13 is 66.7%, T18 is 60%, and T21 is 87.5%. The combined PPA for all aneuploidies is 72.3%. The specificity, as calculated as negative percent agreement, is 99.5% across all observed fetal fraction values.

CLINICAL PERFORMANCE: Information on clinical performance for this assay can be found in the following reference: Borth H. Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany. Arch Gynecol Obstet. 2021;303(6):1407-1414.

LIMITATIONS: This is a screening test and should not be considered in isolation from other clinical findings and diagnostic test results. High-risk results must be confirmed by diagnostic testing (amniocentesis, CVS, or postnatal testing) before any clinical decisions are made based on the screening test result. The current iteration of this assay is limited to reporting the following on singleton pregnancies: fetal sex, fetal fraction, risk level for trisomy 13, 18, 21, and risk level for sex chromosome aneuploidies XO, XXX, XXY, and XYY. This assay is not meant to detect deletions or duplications within a chromosome, polyploidy, maternal abnormalities, balanced chromosome rearrangements, or chromosomal aneuploidies not listed above. Results may be confounded by the following: recent maternal blood transfusion, organ transplant, surgery, immunotherapy, malignancy, maternal mosaicism, placental mosaicism, fetal demise, disappearing twin, fetal partial aneuploidy, and/or fetal mosaicism. Samples with observed fetal fraction less than 5.0% have lower sensitivity to detect fetal aneuploidy, and the accuracy of the fetal fraction estimate is significantly lower. Fetal demise/miscarriage is not assessed.

Compliance Category

Laboratory Developed Test (LDT)


Results will not be reported without a gestational age greater than or equal to 10 weeks. ARUP only performs testing on singleton pregnancies. Multiple gestation samples will be sent to Integrated Genetics to perform the MaterniT21 PLUS Core (chr21,18,13) test.

Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
3003046 Report Fetal Sex
3003048 Multiple Gestation 45371-2
3003050 EER Non-Invasive Prenatal NGS Aneu 11502-2
3003051 Result Summary 50398-7
3003052 Trisomy 13
3003053 Trisomy 18 77015-6
3003054 Trisomy 21 77014-9
3003055 Sex Chromosome Trisomies and Monosomy X 79211-9
3003056 Fetus Sex 77020-6
3003057 Fetal Fraction 75605-6
3004820 Gestational Age at Draw 18185-9
* 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.


  • 45,x
  • aneuploidy
  • aneuploidy screening
  • cell-free
  • cellfree
  • cfDNA
  • cfDNA screening
  • cffDNA
  • chromosome abnormality
  • Down syndrome
  • Edward syndrome
  • fetal fraction
  • Klinfelter syndrome
  • monosomy X
  • NIPD
  • NIPS
  • NIPT
  • NIPT blood test
  • NIPT testing
  • non-invasive prenatal screening
  • non-invasive prenatal testing
  • noninvasive prenatal screening
  • noninvasive prenatal testing
  • Patau syndrome
  • prenatal aneuploidy screening
  • prenatal screening
  • sex chromosome aneuploidy
  • T13
  • T18
  • T21
  • triple X syndrome
  • trisomy 13
  • trisomy 18
  • trisomy 21
  • Turner syndrome
  • XXX
  • XXY
  • XYY
Non-Invasive Prenatal Aneuploidy Screen by cell-free DNA Sequencing