Appeal type: Experimental/Investigational
Decision: Upheld

Diagnosis: Recurrent Miscarriages. 
Treatment: Outpatient Laboratory Tests. 

The insurer denied coverage for outpatient laboratory tests. 

The denial is overturned. 

According to the medical records, the patient is a female with history of recurrent miscarriages. She presented to the reproductive endocrinologist's office for the evaluation of recurrent miscarriages. The patient had C677T MTHFR (methylenetetrahydrofolate reductase) variant testing to investigate the cause of miscarriage. 

The scientific evidence in peer-reviewed literature supports a result of improvement in health outcome with MTHFR (methylenetetrahydrofolate reductase) testing. 

Report have linked the thermolabile variant of MTHFR to obstetric complications such as severe preeclampsia, abruptio placentae, fetal growth restriction, neural tube defects, and stillbirth. 

A study of 110 women who had one of the above-mentioned obstetrical complications and 110 women who had one or more normal pregnancies. The women were tested several days after delivery for the mutation of guanine to adenine at nucleotide 1691 [corrected] in the factor V (blood cloth disorder) gene (factor V Leiden), the mutation of cytosine to thymine at nucleotide 677 in the gene encoding methylenetetrahydrofolate reductase, and the mutation of guanine to adenine at nucleotide 20210 in the prothrombin gene. Two to three months after delivery the women were tested for deficiency of protein C (blood cloth prevention), protein S (blood cloth prevention), or antithrombin III and for the presence of anticardiolipin antibodies. 

The etiology and pathogenesis of intrauterine fetal death, preeclampsia or fetal growth retardation remain still unknown in many cases. However, placental thrombosis and/or infarction might lead to inadequate maternal-fetal circulation. So, the relevance of an additional thrombotic risk factor that enhances the physiological hypercoagulable state of gestation has been suggested in the development of these adverse outcomes of pregnancy. Several genetic mutations are newly recognized associated with an increased frequency of venous thrombosis: mutation of adenine to guanine at nucleotide 506 in the factor V gene, mutation of cytosine at nucleotide 677 in the methylenetetrahydrofolate gene and mutation of guanine to adenine at nucleotide 20210 in the prothrombin gene. In this issue, a review of literature has allowed us to evaluate the prevalence of these genetic predisposing thrombotic factors with the development of obstetrical complications. Furthermore, therapeutic approach is considered. (Verdy et al. 1999) 

"Recurrent pregnancy loss (RPL) is defined in the United States as two or more consecutive failed clinical pregnancies documented by ultrasound or histopathology.[1] In the United Kingdom, it is defined as having three or more consecutive early pregnancy losses. 

Based on peer review literature, genetic mutations with MTHFR can be associated with increased pregnancy loss and other obstetric complications. 

The outpatient laboratory tests, thrombophilia test, denial code 776 and denial code 784, performed is the best available treatment for this patient at this time. 

The adverse risks are increased over standard treatment/services. Not approving this test can lead to misdiagnosis or failure to diagnose why the patient is having recurrent miscarriages. 

The requested service is beneficial for the claimant as it can help uncover why she has recurrent miscarriages and the standard of not allowing this test does not provide any benefit and leads to failure to diagnose a potentially harmful condition.                                             

The carrier's denial of outpatient laboratory tests, thrombophilia test, denial code 776 and denial code 784 performed overturned.