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This medical policy (medical coverage guideline) is Copyright 2017, Blue Cross and Blue Shield of Florida (BCBSF). All Rights Reserved. You may not copy or use this document or disclose its contents without the express written permission of BCBSF. The medical codes referenced in this document may be proprietary and owned by others. BCBSF makes no claim of ownership of such codes. Our use of such codes in this document is for explanation and guidance and should not be construed as a license for their use by you. Before utilizing the codes, please be sure that to the extent required, you have secured any appropriate licenses for such use. Current Procedural Terminology (CPT) is copyright 2017 American Medical Association. All Rights Reserved. No fee schedules, basic units, relative values, or related listings are included in CPT. The AMA assumes no liability for the data contained herein. Applicable FARS/DFARS restrictions apply to government use. CPT® is a trademark of the American Medical Association. The use of specific product names is illustrative only. It is not intended to be a recommendation of one product over another, and is not intended to represent a complete listing of all products available.

03-59000-18

Original Effective Date: 03/15/13

Reviewed: 12/01/16

Revised: 01/01/17

Subject: Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA

THIS MEDICAL COVERAGE GUIDELINE IS NOT AN AUTHORIZATION, CERTIFICATION, EXPLANATION OF BENEFITS, OR A GUARANTEE OF PAYMENT, NOR DOES IT SUBSTITUTE FOR OR CONSTITUTE MEDICAL ADVICE. ALL MEDICAL DECISIONS ARE SOLELY THE RESPONSIBILITY OF THE PATIENT AND PHYSICIAN. BENEFITS ARE DETERMINED BY THE GROUP CONTRACT, MEMBER BENEFIT BOOKLET, AND/OR INDIVIDUAL SUBSCRIBER CERTIFICATE IN EFFECT AT THE TIME SERVICES WERE RENDERED. THIS MEDICAL COVERAGE GUIDELINE APPLIES TO ALL LINES OF BUSINESS UNLESS OTHERWISE NOTED IN THE PROGRAM EXCEPTIONS SECTION.

           
Position Statement Billing/Coding Reimbursement Program Exceptions Definitions Related Guidelines
           
Other References Updates    
           

DESCRIPTION:

Current national guidelines recommend all pregnant women be offered screening for fetal aneuploidy (referring specifically to T21, T18, and T13) before 20 weeks of gestation, regardless of age. Commercial, noninvasive, sequencing-based testing of maternal serum for fetal trisomy syndromes is now available. The test technology involves detection of fetal cell-free DNA fragments present in the plasma of pregnant women. As early as 8 to 10 weeks of gestation, these fetal DNA fragments comprise 6% to 10% or more of the total cell-free DNA in a maternal plasma sample.

Sequencing-based tests use 1 of 2 general approaches to analyzing cell-free DNA. The first category of tests uses quantitative or counting methods. The most widely used technique to date uses massively parallel sequencing (MPS; also known as next-generation or “next gen” sequencing). The second general approach is single nucleotide polymorphism (SNP)‒based methods. They use targeted amplification and analysis of approximately 20,000 SNPs on selected chromosomes (eg, 21, 18, 13) in a single reaction. Noninvasive screening for fetal aneuploidies is accepted as standard of care; therefore, the performance characteristics of noninvasive plasma screening requires high sensitivity and specificity compared with the gold standard diagnostic method.

Maternal plasma DNA sequencing-based tests for fetal microdeletions have been proposed for use as noninvasive screening for fetal aneuploidies. However, there is not yet a widely accepted clinical use for screening for microdeletions and microduplications in early pregnancy. Other potential uses are for diagnosis of suspected genetic disorders.

POSITION STATEMENT:

NOTE: Coverage for genetic testing, screening, and counseling are applicable only under those contracts that include benefits for genetic testing, preventive health services, screening services, and medical counseling.

Nucleic acid sequencing-based trisomy testing of maternal plasma for trisomy 21 meets the definition of medical necessity in women with singleton pregnancies undergoing screening for trisomy 21.

Concurrent nucleic acid sequencing-based testing of maternal plasma for trisomy 13 and/or 18 meets the definition of medical necessity in women who are eligible for and are undergoing nucleic acid sequencing-based testing of maternal plasma for trisomy 21.

Nucleic acid sequencing-based testing of maternal plasma for trisomy 13 and/or 18, other than in the situations specified above, is considered experimental or investigational. There is insufficient clinical evidence to permit conclusions on net health outcomes.

Nucleic acid sequencing-based testing of maternal plasma is considered experimental or investigational for the following indications:

• in women with twin or multiple pregnancies

• fetal sex chromosome aneuploidies

• microdeletions.

The evidence is insufficient to determine the effects of the technology on health outcomes.

BILLING/CODING INFORMATION:

CPT Coding:

81420

Fetal chromosomal aneuploidy (eg, trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21

81422

Fetal chromosomal microdeletion(s) genomic sequence analysis (eg, DiGeorge syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood (Investigational)

81507

Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy (Harmony™ Prenatal Test)

0009M

Fetal aneuploidy (trisomy 21, and 18) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy (VisibiliT™ Test)

REIMBURSEMENT INFORMATION:

PROGRAM EXCEPTIONS:

Federal Employee Program (FEP): Follow FEP guidelines.

State Account Organization (SAO): Follow SAO guidelines.

Medicare Advantage Products:

No National Coverage Determination (NCD) and/or Local Coverage Determination (LCD) were found at the time of the last guideline reviewed date

DEFINITIONS:

No guideline specific definitions apply.

RELATED GUIDELINES:

None.

OTHER:

Other names used to describe nucleic acid sequencing-based testing of maternal plasma:

Note: The use of specific product names is illustrative only. It is not intended to be a recommendation of one product over another, and is not intended to represent a complete listing of all products available.

Harmony™
InformaSeqSM
MaterniT21™ PLUS
Panorama™
QNatal
Verifi®
VisibiliT™

REFERENCES:

  1. American College of Obstetricians and Gynecologists (ACOG), Committee Opinion Number 640: Cell-free DNA Screening for Fetal Aneuploidy, September 2015.
  2. Blue Cross Blue Shield Association Medical Policy Reference Manual, Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA, 10/16.
  3. Blue Cross Blue Shield Association Technology Evaluation Center (TEC). Noninvasive maternal plasma sequencing-based screening for fetal aneuploidies other than trisomy 21. TEC Assessments 2014; Volume 29, Tab 7.
  4. Blue Cross Blue Shield Association (BCBSA), Technology Evaluation Center (TEC). Sequencing-Based Tests to Determine Fetal Down Syndrome (Trisomy 21) from Maternal Plasma DNA, Volume 27, No. 10 April 2013.
  5. California Technology Assessment Forum (CTAF), Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing, Part 2, October 2012.
  6. ClinicalTrials.com, Clinical Evaluation of the SEQureDx T21 Test in Low Risk Pregnancies, sponsored by Sequenom, Inc, accessed 01/24/13.
  7. ClinicalTrials.com, Comparison of Aneuploidy Risk Evaluations (CARE), sponsored by Verinata Health, Inc, accessed 01/24/13.
  8. ClinicalTrials.com, Non-invasive Chromosomal Examination of Trisomy study (NEXT), sponsored by Ariosa Diagnostics, Inc, accessed 01/24/13.
  9. ClinicalTrials.com, Prenatal Non-invasive Aneuploidy Test Utilizing SNPs [single nucleotide polymorphism] Trial (PreNATUS), Sponsored by Natera, Inc, accessed 01/24/13.
  10. ClinicalTrials.com, Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood (PEGASUS), sponsored by Centre Hospitalier Universitaire de Québec, accessed 02/18/15.
  11. Gil MM, Quezada MS, Bregant B, et al, Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol. 2013 Jul;42(1):34-40.
  12. Gregg AR, Gross SJ, Best RG et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013; 15(5):395-8.
  13. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. Oct 2016;18(10):1056-1065.
  14. International Society for Prenatal Diagnosis (ISPD), Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011.
  15. National Society of Genetic Counselors (NSGC), Noninvasive prenatal testing/ noninvasive prenatal diagnosis (NIPT/NIPD), accessed at nsgc.org 01/14/13.
  16. Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374.e1-6.
  17. Norton ME, Brar H, Weiss J, et al, Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18, Am J Obstet Gynecol 2012;207:x.ex-x.ex.
  18. Porreco RP, Garite TJ, Maurel K, et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol. Mar 19 2014.
  19. Practice Bulletin No. 163 Summary: Screening for Fetal Aneuploidy. Obstet Gynecol. May 2016;127(5):979-981.
  20. Society for Maternal-Fetal Medicine (SMFM) Publications Committee. SMFM Statement: clarification of recommendations regarding cell-free DNA aneuploidy screening. Am J Obstet Gynecol. Dec 2015;213(6):753-754.
  21. Taylor-Phillips S, Freeman K, Geppert J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6(1):e010002.

COMMITTEE APPROVAL:

This Medical Coverage Guideline (MCG) was approved by the Florida Blue Medical Policy & Coverage Committee on 12/01/16.

GUIDELINE UPDATE INFORMATION:

03/15/13

New Medical Coverage Guideline.

07/01/13

Quarterly HCPCS updates. Added code 0005M. Revised Program Exception section.

10/15/13

Revision; position statements and guideline title updated; formatting changes.

01/01/14

Annual HCPCS update. Added code 81507; deleted code 0005M.

03/15/14

Annual review; position statements maintained and references updated.

01/01/15

Annual HCPCS/CPT update. Added code 81420.

04/15/15

Annual review; position statements and references updated; formatting changes.

09/15/15

Revision; update position statement and references; formatting changes.

11/15/15

Revision; coding section updated.

12/15/16

Revision; title, description, position statements, and references updated; formatting changes.

01/01/17

Annual CPT/HCPCS update. Added 81422.

Date Printed: October 20, 2017: 02:06 PM