Abstract

INTRODUCTION: Miscarriage evaluations, including histopathology studies and genetic testing, are performed to determine the cause of the loss and provide maternal medical management guidance. This study examined the cost and diagnostic effectiveness of histopathology and single nucleotide polymorphism (SNP) array-based genetic testing to identify molar pregnancies, defined as conceptions with excess paternal genetic contribution, or another cause of the loss. METHODS: Products of conception cases from a single institution (Recurrent Pregnancy Loss Center, Fertility Associates of Memphis, Memphis, TN), are routinely sent for histopathological examination and genetic testing. Retrospective analysis of the results and cost of both evaluations were compared. (IRB E&I 15148-03). RESULTS: Fifty-nine cases were examined. SNP array-based testing showed 27 normal (46%) and 32 abnormal cases (54%), including 3 molar (diandric triploidy). Histopathology identified three molar cases; only one was confirmed by SNP microarray. In this cohort, the self-pay cost for histopathology was $241 and for SNP array was $349. The rate of correctly identifying molar pregnancy by histopathology was 1/59 or $14,219/case identified, and by SNP array was 3/59 or $6,864/case identified. Similarly, the rate of identifying a cause of the loss by histopathology was 1/59 or $14,219/case identified and by SNP array was 32/59 or $643/case identified. CONCLUSION: Comparison of the cost of SNP array analysis with histopathology evaluation results in a similar expense to the patient. SNP array is an alternative to identifying patients with a molar pregnancy and provides additional clinical information to providers at a significantly lower cost per case for cause of loss identified.

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