Appeal type: Experimental/Investigational
Decision: Upheld

Diagnosis:  Infertility.
Treatment:  Current Procedural Terminology (CPT) code 81443 Genetic testing for severe inherited conditions (e.g., cystic fibrosis, Ashkenazi Jewish-associated disorders [e.g., Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia, genomic sequence analysis panel, must include sequencing of at least 15 genes).

The insurer denied coverage for CPT code 81443.  The denial is overturned. 

This is a female patient who was seen for an initial workup for infertility.  As part of this preconception workup, a carrier screening panel was ordered.

She meets national guidelines for carrier screening.  According to the American College of Obstetricians and Gynecologists (ACOG), "All patients who are considering pregnancy or are already pregnant, regardless of screening strategy and ethnicity, should be offered carrier screening for cystic fibrosis and spinal muscular atrophy, as well as a complete blood count and screening for thalassemias and hemoglobinopathies."  Also, "Information about genetic carrier screening should be provided to every pregnant woman.  After counseling, a patient may decline any or all screening." 

The ACOG also states, "Ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for prepregnancy and prenatal carrier screening.  Each obstetrician-gynecologist or other health care provider or practice should establish a standard approach that is consistently offered to and discussed with each patient, ideally before pregnancy.  After counseling, a patient may decline any or all carrier screening."      

This patient meets the approval of the ACOG and the American Society of Reproductive Medicine (ASRM).  ASRM states, "Preimplantation genetic testing for monogenic disease (PGT-M) for adult-onset conditions is ethically justifiable when the conditions are serious and when there are no known interventions for the conditions, or the available interventions are either inadequately effective or are perceived to be significantly burdensome."     

She is a good candidate, because as per the ACOG, "Prepregnancy carrier screening is ideal because it provides patients with the opportunity to learn their carrier status and allows reproductive partners to discover if they are both carriers of the same condition before pregnancy.  Patients then can consider whether or not to conceive and whether to use advanced reproductive technologies such as preimplantation genetic diagnosis or donor gametes."     

This type of screening, universal or expanded carrier screening has become the gold standard and optimal type of screening in the preconception period.  Current Procedural Terminology (CPT) code 81443 Genetic testing for severe inherited conditions (e.g., cystic fibrosis, Ashkenazi Jewish-associated disorders [e.g., Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia, genomic sequence analysis panel, must include sequencing of at least 15 genes) accomplishes this.

The testing is likely to be more beneficial than any other standard treatment/procedure.                                                    

The carrier's denial of coverage for CPT code 81443 should be overturned.