Non-Invasive Prenatal Aneuploidy Screen by cell-free DNA Sequencing
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
Specimen Required
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.
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.
Transport 10 mL maternal whole blood (Min: 7 mL)
Refrigerated
Ambient and frozen specimens.
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.
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.
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
Hotline History
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 |
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