Appeal type: Medical necessity
Decision: Upheld

Diagnosis: Multiple fetal cardiac defects. 
Treatment: Comprehensive congenital heart disease panel. 

The insurer denied the Comprehensive congenital heart disease panel. 
The determination is upheld. 

The patient is under consideration for medical necessity for a manual test for comprehensive congenital heart disease panel. The patient is noted to be carrying a fetus with multiple cardiac defects and a congenital heart disease panel is being performed to determine if the features in the fetus are related to a cardiac syndrome or whether this is a multifactorial cardiac issue in the fetus. The patient is considering termination of pregnancy for abnormal results. In this case, the fetus is noted to have a hypoplastic left ventricle with limited views of the ascending aorta. There is suggested moderate hypoplasia of the aorta. There is a dilated right ventricle. The mitral valve is moderately hypoplastic. There is a likely large membranous/conotruncal ventrical septal defect. In this case, the patient underwent an amniocentesis for prenatal diagnosis. She had previously undergone normal screening studies by non-invasive prenatal screening (NIPS). The patient was offered a congenital cardiac defect panel (under consideration in this review) for examination of syndromic or non-syndromic cardiac conditions. The patient underwent formal genetic counseling for this presentation and the benefits and limitations of testing. She opted to undergo fluorescence in situ hybridization (FISH), karyotype, microarray and the Prevention Prenatal Cardiac Gene Panel. 

Based upon a review of the recommendations of the American Medical College of Genetics and the standards of care for prenatal assessment of a fetal hypoplastic heart by national recommendations, the performance of a comprehensive congenital heart disease panel would not be medically necessary in this case of fetal presentation with a congenital cardiac defect-hypoplastic left heart syndrome. In this case, the patient underwent amniocentesis for the standard and appropriate FISH, karyotype and microarray. These are recognized by the American College of Obstetricians and Gynecologists (ACOG) as appropriate interventions in this case. 
Advances in genetic testing technologies have led to the development and use of large-scale deoxyribonucleic acid (DNA) sequencing, including but not limited to expanded carrier panels. Generally, carrier screening guidelines have focused on the assessment of individual conditions and ancestry. However, the effectiveness of this approach can be impacted by limited or inaccurate knowledge of ancestry and an increasingly multiethnic society. Approaches to screening have also been influenced by the recognition that while some genetic conditions occur more frequently in certain populations, genetic disorders are not limited to specific ethnic groups (Edwards, 2015). 

According to the American College of Medical Genetics (ACMG): 
The completion of the full human genome sequence, followed by dramatic improvement in the speed and cost of DNA sequencing and microarray hybridization analysis, has enabled the ascertainment of an unprecedented quantity of disease-specific genetic variants in a time frame suited to prenatal/preconception screening and diagnosis. Now it is possible, using new technologies, to screen for mutations in many genes for approximately the same cost as previously required to detect mutations in a single gene or a relatively small number of population-specific mutations in several genes. Commercial laboratories have begun to offer such expanded carrier screening panels to physicians and the public, but there has been no professional guidance on which disease genes and mutations to include. Thus, there has been no consensus on offering testing beyond single nucleotide polymorphism (SNP) array in cases of congenital heart defect as the SNP array would detect common trisomies and the 22q11.2 microdeletion syndrome. ACOG states the following: "In patients with a major fetal structural abnormality found on ultrasound examination, chorionic villus sampling (CVS) or amniocentesis with chromosomal microarray should be offered. If a structural abnormality is strongly suggestive of a particular aneuploidy in the fetus (eg, duodenal atresia or an atrioventricular heart defect, which are characteristic of trisomy 21), karyotype analysis with or without FISH may be offered before chromosomal microarray analysis. If a patient is at increased risk of having offspring with trisomy 13, 18, or 21 based on abnormal serum screening or cell-free DNA testing, amniocentesis with FISH plus karyotype or with karyotype alone should be offered. Additionally, chromosomal microarray analysis should be available to women undergoing invasive diagnostic testing for any indication. Because chromosomal microarray analysis does not require dividing cells, it is the best test for the assessment of fetal death or stillbirth " 

Thus, at this time, there is no medical necessity for performance of a comprehensive congenital heart disease panel for a patient, such as this patient, as this has not been recommended by ACOG or the American College of Medical Genetics and Genomics (ACMG).