Non-Invasive Prenatal Testing for Fetal Aneuploidy

2007537
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History Form for Non-Invasive Prenatal Testing (NIPT) - REQUIRED

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Optional Informed Consent Form for Non-Invasive Prenatal Testing (NIPT)

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Additional Technical Information

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). Testing may be offered to pregnant women with singleton or twin pregnancies from 9 weeks 0 days gestation to term. Test may also be ordered for women who have used an egg donor or for surrogate pregnancies. Test is not recommended for women carrying triplets or higher-order multiples, who have a known twin demise, who are carrying twins and used an egg donor/surrogate, or who have had an allogenic bone marrow transplant.

Mnemonic

NIPT ANEU

Methodology

Targeted sequencing with SNPs

Performed

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). This is a screening test to help identify fetuses at risk for Down Syndrome, trisomy 18, trisomy 13 and Turner Syndrome. This test should not be considered diagnostic. It is recommended that any positive result should be confirmed by amniocentesis or CVS.

Hotline History

N/A

CPT Codes

81420

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Components

Component Test Code* Component Chart Name LOINC
2007538 EER Non-Invasive Prenatal, Aneuploidy 11526-1
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
* 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

  • 45X
  • cell-free
  • cellfree
  • cffDNA
  • edward syndrome
  • Natera
  • NIPD
  • Panorama
  • patau syndrome
  • T13
  • T18
  • trisomy 21
Non-Invasive Prenatal Testing for Fetal Aneuploidy

Natera