Fetal Aneuploidy Screening with Microdeletions

3004781
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Additional Technical Information

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Noninvasive Prenatal Testing (NIPT) Patient History Form

Ordering Recommendation

First- or second-tier screening test for the common fetal aneuploidy disorders: trisomy 13, trisomy 18, trisomy 21 (Down syndrome), Turner syndrome, sex chromosome aneuploidies (XXX, XXY, XYY), and triploidy; as well as microdeletions causing 22q11.2 deletion (DiGeorge or velocardiofacial [VCFS] syndrome), 1p36 deletion, Angelman, Prader-Willi, and cri-du-chat (5p-) syndromes. Testing may be offered to pregnant women from 9 weeks 0 days gestation to term. Test is not recommended for women who are carrying more than one fetus or have a known twin demise, patients who have used an egg donor, surrogates who have not used their own egg, or women who have had an allogeneic bone marrow transplant.

Mnemonic

FAS MD

Methodology

Sequencing

Performed

Varies

Reported

12-14 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation
Collect

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
Remarks

Patient history form is required prior to testing.

Stability

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

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Performed by non-ARUP Laboratory

Note

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/15/2022
X
N/A

CPT Codes

81420; 81422

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Components

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
3004780 22q11.2 deletion syndrome
3004782 EER Fetal Aneuploidy w/Microdeletions
3004783 Microdeletion - Prader-Willi syndrome 44617-9
3004784 Microdeletion - Cri-du-chat syndrome 73751-0
3004785 Microdeletion - Angelman syndrome 48024-4
3004786 Report Fetal Sex 8251-1
3004787 Microdeletion - del 1p36 syndrome
* 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
Fetal Aneuploidy Screening with Microdeletions

Natera