Prenatal Invasive Diagnostic Genetic Testing Form

. Prenatal invasive diagnostic genetic tests are laboratory studies that are performed during pregnancy when a developing fetus is at risk for or is suspected of having a chromosomal or congenital abnormality and to confirm a diagnosis when noninvasive prenatal screening tests are abnormal or there is a known familial variant (KFV). Testing may be performed on a variety of specimens including amniotic fluid, chorionic villi or percutaneous umbilical blood samples.
Amniotic fluid alpha-fetoprotein (AFAFP) with acetylcholinesterase (AchE) reflex confirmatory testing may be used to detect congenital anomalies including neural tube defects through amniocentesis.
Molecular genetic testing using sequencing and sometimes deletion/duplication analysis may be considered to analyze deoxyribonucleic acid (DNA) extracted from

Prenatal Invasive Diagnostic Genetic Testing Effective Date: 02/02/2023 Revision Date: 02/02/2023 Review Date: 02/02/2023 Policy Number: HUM-0462-034 Page: 2 of 9 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. fetal cells by CVS and amniocentesis to detect gene variants prenatally in fetuses that may be at risk for genetic disorders.
For information regarding CFTR deletion/duplication analysis for cystic fibrosis, please refer to Genetic Testing for Cystic Fibrosis Medical Coverage Policy. Multigene panels have been proposed to evaluate genes associated with diseases or syndromes. Panels often include medically actionable genes but may also include those with unclear medical management (Refer to Coverage Limitations section) For information regarding genetic testing for the following, please refer to Genetic Testing Medical Coverage Policy: • DNA banking or preservation • General population screening
• Individual 17 years of age or younger for adult-onset conditions • Interpretation and reporting for molecular pathology procedure • Polygenic risk score (PRS) and single nucleotide polymorphisms (SNPs)
• Repeat germline or somatic genetic testing • Retrieved archival tissue Humana recognizes that the field of genetic testing is rapidly changing and that other tests may become available. For information regarding prenatal exome sequencing, please refer to
Whole Genome/Exome Sequencing and Genome-Wide Association Studies Medical Coverage Policy. Coverage Determination Any state mandates for prenatal invasive diagnostic genetic testing take precedence over this medical coverage policy.
Genetic testing may be excluded by certificate. Please consult the member’s individual certificate regarding Plan coverage.
AFAFP with AchE Reflex Confirmatory Testing See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.

Prenatal Invasive Diagnostic Genetic Testing Effective Date: 02/02/2023 Revision Date: 02/02/2023 Review Date: 02/02/2023 Policy Number: HUM-0462-034 Page: 3 of 9 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. Humana members may be eligible under the Plan for AFAFP with AchE reflex confirmatory testing when ANY of the following criteria are met:
• Abnormal maternal serum alpha-fetoprotein (MSAFP) results; OR
• Aid in the diagnosis of open neural tube defects and/or ventral wall defects
Molecular Genetic Testing for Prenatal Diagnosis of a Genetic Disease Humana members may be eligible under the Plan for molecular genetic testing for prenatal diagnosis of a genetic disease when the following criteria are met: • Pre- and Post-Test Genetic Counseling; AND
• Genetic condition is associated with potentially severe disability or has lethal natural history AND any one of the following: o Abnormal fetal ultrasound findings or anatomical markers (eg, duodenal atresia or atrioventricular heart defect) suggestive of a specific genetic disease are present; OR o A previously failed pregnancy is known to be affected with the genetic disease; OR o Presence of a pathogenic or likely pathogenic variant in an affected or carrier
first-degree relative For information regarding carrier status, please refer to Genetic Testing for Carrier Screening Medical Coverage Policy. Note: The criteria for prenatal invasive diagnostic genetic testing are not consistent with the Medicare National Coverage Policy and therefore may not be applicable to Medicare members. Refer to the CMS website at CMS website for additional information. Coverage Limitations Humana members may NOT be eligible under the Plan for prenatal invasive diagnostic genetic testing for any indications other than those listed above including, but not limited to: See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.

Prenatal Invasive Diagnostic Genetic Testing Effective Date: 02/02/2023 Revision Date: 02/02/2023 Review Date: 02/02/2023 Policy Number: HUM-0462-034 Page: 4 of 9 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. • CFTR deletion/duplication analysis for CF (81222)
• Multigene panels unless ALL genes in the panel meets disease- or gene-specific criteria (Refer to Coverage Determination section) This is considered experimental/investigational as it is not identified as widely used and generally accepted for any other proposed use as reported in nationally recognized peer-reviewed medical literature published in the English language. Humana members may NOT be eligible under the Plan for prenatal invasive diagnostic genetic testing for any indications other than those listed above, including genetic conditions that are NOT associated with potentially severe disability or lethal natural history. This is considered not medically necessary as defined in the member’s individual certificate. Please refer to the member’s individual certificate for the specific definition. Background Additional information about inherited genetic conditions may be found from the following websites: • National Library of Medicine Medical Alternatives Physician consultation is advised to make an informed decision based on an individual’s health needs.
Humana may offer a disease management program for this condition. The member may call the number on his/her identification card to ask about our programs to help manage his/her care. Provider Claims Codes Any CPT, HCPCS or ICD codes listed on this medical coverage policy are for informational purposes only. Do not rely on the accuracy and inclusion of specific codes. Inclusion of a code does not guarantee coverage and or reimbursement for a service or procedure. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.

Prenatal Invasive Diagnostic Genetic Testing Effective Date: 02/02/2023 Revision Date: 02/02/2023 Review Date: 02/02/2023 Policy Number: HUM-0462-034 Page: 5 of 9 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. The table below includes general codes for Prenatal Invasive Diagnostic Genetic Testing. For codes related to a specific gene and/or genetic condition, please refer to the appropriate genetic testing medical coverage policy. CPT® Code(s) Description Comments 81222 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion variants 88235 96040 Tissue culture for non-neoplastic disorders; amniotic fluid or chorionic villus cells Medical genetics and genetic counseling services, each 30 minutes face-to-face with patient/family Not Covered if used to report any test outlined in Coverage Limitations section CPT® Category III Code(s) No code(s) identified Description Comments HCPCS Code(s) S0265 References Description Comments Genetic counseling, under physician supervision, each 15 minutes

2. American Academy of Pediatrics (AAP). Clinical Report. Prenatal screening and diagnosis for pediatricians. https://www.aap.org. Published September 2004. Accessed December 14, 2022. American College of Medical Genetics and Genomics (ACMG). Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG). https://www.acmg.net. Published August 2017. Accessed December 14, 2022.

3. American College of Obstetricians and Gynecologists (ACOG). Committee Opinion. Microarrays and next-generation sequencing technology: the use of See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.

   Prenatal Invasive Diagnostic Genetic Testing Effective Date: 02/02/2023 Revision Date: 02/02/2023 Review Date: 02/02/2023 Policy Number: HUM-0462-034 Page: 6 of 9 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. advanced genetic diagnostic tools in obstetrics and gynecology. http://www.acog.org. Published December 2016. Accessed December 14, 2022.

6. American College of Obstetricians and Gynecologists (ACOG). Practice Bulletin. Neural tube defects. https://www.acog.org. Published December 2017. Accessed December 14, 2022. American College of Obstetricians and Gynecologists (ACOG). Practice Bulletin. Prenatal diagnostic testing for genetic disorders. https://www.acog.org. Published May 2016. Accessed December 14, 2022. Centers for Medicare & Medicaid Services (CMS). National coverage determination (NCD) for cytogenetic studies (190.3). https://www.cms.gov. Published July 16, 1998. Accessed December 14, 2022.
7. MCG Health. Amniocentesis. 26th edition. https://www.mcg.com. Accessed December 14, 2022.
8. MCG Health. Chorionic villus sampling (CVS). 26th edition. http://www.mcg.com. Accessed December 14, 2022.
9. National Society of Genetic Counselors (NSGC). NSGC Practice Guideline. Prenatal screening and diagnostic testing options for chromosome aneuploidy. https://www.nsgc.org. Published February 2013. Accessed December 14, 2022.
10. National Society of Genetic Counselors (NSGC). Position Statement. Prenatal testing for adult-onset conditions. https://www.nsgc.org. Published June 2019. Accessed December 14, 2022.

11. UpToDate, Inc. Approach to prenatal diagnosis of the lethal skeletal dysplasias. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.

    Prenatal Invasive Diagnostic Genetic Testing Effective Date: 02/02/2023 Revision Date: 02/02/2023 Review Date: 02/02/2023 Policy Number: HUM-0462-034 Page: 7 of 9 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

12. UpToDate, Inc. Birth defects: approach to evaluation. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022.
13. UpToDate, Inc. Chorionic villus sampling. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022.
14. UpToDate, Inc. Congenital heart disease: prenatal screening, diagnosis, and management. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022.
15. UpToDate, Inc. Diagnostic amniocentesis. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022.
16. UpToDate, Inc. Down syndrome: overview of prenatal screening. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022.
17. UpToDate, Inc. Fetal blood sampling. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022.
18. UpToDate, Inc. Fetal growth restriction: evaluation and management. https://www.uptodate.com. Updated November 2022. Accessed December 14, 2022.
19. UpToDate, Inc. Neural tube defects: overview of prenatal screening, evaluation, and pregnancy management. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022.
20. UpToDate, Inc. Prenatal diagnosis of chromosomal imbalance: chromosomal microarray. https://www.uptodate.com. Updated November 2022. Accessed December 14, 2022.

21. UpToDate, Inc. Prenatal genetic evaluation of the fetus with anomalies or soft markers. https://www.uptodate.com. Updated November 2022. Accessed December 13, 2022. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.

    Prenatal Invasive Diagnostic Genetic Testing Effective Date: 02/02/2023 Revision Date: 02/02/2023 Review Date: 02/02/2023 Policy Number: HUM-0462-034 Page: 8 of 9 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

22. UpToDate, Inc. Prenatal screening and testing for hemoglobinopathy. https://www.uptodate.com. Updated November 2022. Accessed December 14, 2022.

23. UpToDate, Inc. Sickle cell disease: pregnancy considerations. https://www.uptodate.com. Updated November 2022. Accessed December 14, 2022. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.

    Prenatal Invasive Diagnostic Genetic Testing Effective Date: 02/02/2023 Revision Date: 02/02/2023 Review Date: 02/02/2023 Policy Number: HUM-0462-034 Page: 9 of 9 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. Appendix A Pre- and Post-Test Genetic Counseling Criteria Pre- and post-test genetic counseling performed by any of the following qualified medical professionals Genetic counselor who is board-certified or board-eligible by the American Board of Medical Genetics and Genomics (ABMGG) or American Board of Genetic Counseling, Inc (ABGC) and is not employed by a commercial genetic testing laboratory; OR
    Genetic clinical nurse (GCN) or advanced practice nurse in genetics (APNG) who is credentialed by the Genetic Nursing Credentialing Commission (GNCC) or the American of Nurses Credentialing Center (ANCC) and is not employed by a commercial genetic testing laboratory; OR
    Medical geneticist who is board-certified or board-eligible by ABMGG; OR
    Treating physician who has evaluated the individual to be tested and has completed a family history of three generations Appendix B Family Relationships Degree of Relationship Relative of the Individual to be Tested First-degree Second-degree Third-degree Child, full-sibling, parent
    Aunt, uncle, grandchild, grandparent, nephew, niece, half-sibling
    First cousin, great aunt, great-uncle, great-grandchild, great- grandparent, half-aunt, half-uncle See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.