Appeal type: Medical necessity
Decision: Upheld

Diagnosis: Pregnancy
Treatment: Prenatal Genetic Testing (codes: 81161, 81243, 81408)
The insurer denied the Prenatal Genetic Testing (codes: 81161, 81243, 81408).
The denial is upheld.

The patient is an adult female. She underwent genetic testing at 12 weeks of gestation (Z3A.12) in a twin pregnancy with the Horizon panel by Natera. This included testing for cystic fibrosis, spinal muscular atrophy, Fragile X, and Duchenne/Becker muscular dystrophy. The testing for Fragile X and Duchenne/Becker muscular dystrophy is being denied coverage by the health plan as not medically necessary. This denial is being appealed.

The Prenatal Genetic Testing (codes: 81161, 81243, 81408) was not medically necessary.

In 2019, an American College of Obstetricians and Gynecologists' committee opinion concluded that carrier screening performed either by expanded carrier screening or traditional ethnic-based testing is an acceptable strategy as one approach is not clearly superior to the other. Obstetric providers should determine a standard approach for their practice, but with consideration of the individual patient's desire for information based on their personal values and preferences. Commercial laboratories offer test panels that screen for only a few, or up to several hundred, disorders. Guidelines from professional organizations typically recommend that the condition being screened for should be a health problem associated with one or more of the following. For disorders meeting these criteria, the disease frequency should be known so that residual risk can be calculated. Cognitive disability, need for surgical or medical intervention, poor quality of life, prenatal diagnosis that could lead to prenatal intervention to improve perinatal outcome, delivery interventions to optimize newborn and infant outcome, parental education regarding special medical needs and intervention after birth.

In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended offering all pregnant patients and those planning a pregnancy carrier screening for autosomal recessive and X-linked conditions; these conditions (described by American College of Medical Genetics and Genomics as "tier 3" conditions) were defined as having a carrier frequency 1/200. Professional societies discourage screening for disorders that typically have an adult-onset phenotype and molecular testing cannot distinguish between childhood or adult onset (e.g. ["for example"], alpha 1 antitrypsin deficiency), variants with high allele frequencies and low penetrance of a phenotype (e.g., methylene tetrahydrofolate reductase variants), better screening performance with non-molecular screening techniques (e.g., hereditary hemochromatosis has low penetrance when molecular variants are identified).

Fragile X syndrome is a commonly known cause of autism or autism spectrum disorder behaviors with intellectual disability, with the diagnosis occurring in approximately 25% (percent) of affected individuals. The most recent prevalence data from the United States reported a carrier frequency of 1 in 86 for those with a family history of intellectual disability and 1 in 257 for women with no known risk factors for Fragile X syndrome. This is outside the recommendation of 1 in 200 to be included in the expanded panels. In 2010, the prevalence of DMD (Duchenne Muscular Dystrophy) and BMD (Becker Muscular Dystrophy) in the United States was 1.38 per 10,000 male individuals, ages 5 to 24 years. This also does not follow the recommendations in the literature for inclusion into expanded carrier panels. Therefore, code 81161 is not medically necessary. The code 81408 is not associated with any genetic test. Therefore, this is an unnecessary code and not appropriate.

In summary, the requested codes do not follow the accepted standard of medical practice and are not medically necessary. The growth restriction for twin B could not have been established at 12 weeks of gestation when the testing was performed. Growth restriction is not something that can be determined until the second and third trimesters. Therefore, this testing did not have bearing upon the clinical decision making at the time the growth restriction was determined.