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 Sequenom Laboratories 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 New York state approved.

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. Number of fetuses must be provided. Testing will be canceled if number of fetuses is not provided.

Collect

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

Specimen Preparation

Transport 10 mL maternal whole blood (Min: 7 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Ambient and frozen specimens.

Remarks

Patient History and Consent forms for the Non-invasive prenatal aneuploidy screening test (NIPT) are available on the ARUP Web site or by contacting Client Services at 800-522-2787.

Stability

Ambient: Unacceptable; Refrigerated: 10 days; Frozen: Unacceptable.

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

5-7 days

Reference Interval

N/A

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

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

Hotline History

N/A

CPT Codes

81420

Components

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.

Aliases

  • 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
  • NIPTFE
  • 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