High Risk Pregnancy denials in California external review

What the reviewers wrote

Where the denial was overturned

Nature of Statutory Criteria/ Case Summary: The enrollee requested coverage for the fetal chromosomal aneuploidy genetic testing. Findings: Two out of three physician reviewers found that the enrollee presented at twelve weeks gestation for genetic counseling due to advanced maternal age. Paternal family history is positive for autism and liver disease. She planned to complete the California prenatal integrated screening and was also considering expanded carrier screening and/or cell-free DNA screening. Cystic fibrosis, spinal muscular atrophy, and Fragile X carrier screening results were pending through her obstetrician’s office. The cfDNA detects Down syndrome with 99 percent efficiency. Guidelines consider it the most sensitive screening option for detecting trisomy 21, 18, and 13. Cell free DNA is a standard of care for high-risk enrollees.

Nature of Statutory Criteria/Case Summary: The patient has requested reimbursement for biopsy, oocyte polar body or embryo blastomere, microtechnique less than or equal to 5 embryos (CPT 89290). Findings: The physician reviewer found that records provided for review document that this patient and her spouse are carriers of cystic fibrosis. The likelihood of the patient having a child afflicted with cystic fibrosis is estimated at 25%. In order to prevent the birth of a child affected with cystic fibrosis, the patient’s provider recommended in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) procedures. Cystic fibrosis is inherited in an autosomal recessive manner. When both parents are carriers, the chances of an offspring having the disease is 25%.

Where the denial was upheld

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for genetic laboratory testing (CPT 81240 – coagulation factor II prothrombin; CPT 81241 – coagulation factor V Leiden; and CPT 81291 – 5,10-methylenetetrahydrofolate reductase (MTHFR). This patient experienced preterm contractions at 19 weeks gestation while traveling. She presented to a local provider for evaluation. In addition to routine obstetrics laboratory testing, she underwent testing for inherited thrombophilias. The patient reports that her provider recommended testing given her painful contractions to ensure that her pregnancy did not deteriorate. However, there is a paucity of peer-reviewed medical literature or guidelines supporting a clinical role for the testing performed in patients who present with preterm contractions.

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for fetal chromosome microdeletion(s) genomic sequence analysis, circulating cell-free fetal DNA in maternal blood. While cell free fetal DNA testing for aneuploidy is currently standard of care, there is a paucity of support in the peer-reviewed medical literature for the routine use of genome analysis as performed in this patient’s evaluation and treatment. According to the American College of Obstetricians and Gynecologists (ACOG) recommendations, genome-wide cell-free DNA screening for large deletions or duplications is designed to detect abnormalities larger than those evaluated by cell-free DNA microdeletion screening.

These outcomes describe eligible cases completed through California DMHC’s Independent Medical Review program. They do not estimate the chance that an internal appeal, an external review in another jurisdiction, or your individual case will succeed. Use the record to identify evidence patterns involving high risk pregnancy, then check the rights and deadlines that apply to your plan.