BlueCross BlueShield of Tennessee Medical Policy Manual

Chromosomal Microarray Analysis for Evaluation of Pregnancy Loss


Chromosomal microarray analysis (CMA) of fetal or placental tissue has been proposed as a technique to evaluate the cause of isolated and recurrent early pregnancy loss and intrauterine fetal demise.  The evaluation of recurrent and isolated miscarriages and intrauterine fetal demise may involve genetic testing of the products of conception.

Chromosomal microarray analysis has the ability to identify submicroscopic genetic abnormalities too small for conventional karyotyping to detect.  Because chromosomal microarray analysis does not require dividing cells, it may be useful in the evaluation of fetal demise, in which the culturing of macerated tissue is frequently unsuccessful.  In addition, chromosomal microarray analysis is a standardized procedure that involves the use of computerized analysis, whereas karyotyping involves microscopic examination of stained chromosomes and may be more subjective and prone to human error.





Evidence is insufficient at this time to support next-generation sequencing, whole genome sequencing or whole exome sequencing to evaluate early pregnancy loss. 


American College of Obstetrics and Gynecology. (2016). ACOG Committee on Genetics, Committee Opinion No. 682: Microarrays and next-generation sequencing technology: The use of advanced genetic diagnostic tools in obstetrics and gynecology. Retrieved December 6, 2016 from

American Society for Reproductive Medicine. (2012). Evaluation and treatment of recurrent pregnancy loss: a committee opinion. Retrieved October 13, 2015 from

BlueCross BlueShield Association. Medical Policy Reference Manual. (8:2017). Chromosomal microarray analysis for the evaluation of pregnancy loss. (2.04.122). Retrieved October 19, 2017 from BlueWeb. (35 articles and/or guidelines reviewed)

Centers for Medicare & Medicaid Services. (1998) NCD for cytogenetic studies (190.3). Retrieved December 6, 2016 from

Dhillon, R., Hillman, S., Morris, R., McMullan, D., Williams, D., Coomarasamy, A., et al. (2013). Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis. British Journal of Obstetrics and Gynaecology, 121 (1), 11-21. (Level 1 evidence - Independent study)

Ellard, S., Kivuva, E., Turnpenny, P., Stals, K., Johnson, M., Xie, W., et al. (2015) An exome sequencing strategy to diagnose lethal autosomal recessive disorders. European Journal of Human Genetics, 23, 401-404. (Level 4 evidence)

Levy, B., Sigurjonsson, S., Pettersen, B., Maisenbacher, M.K., Hall, M.P., Demko, Z., et al. (2014). Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstetrics and Gynecology, 124 (2 Pt 1), 202-209. Abstract retrieved February 9, 2016 from PubMed database.

Rosenfeld, J. A., Tucker, M. E., Escobar, L. F., Neill, N. J., Torchia, B. S., McDaniel, L. D., et al. (2015). Diagnostic utility of microarray testing in pregnancy loss. Ultrasound in Obstetrics & Gynecology, 46 (4), 478-486. Abstract retrieved December 6, 2016 from PubMed database.

Sahoo, T., Dzidic, N., Strecker, M., Commander, S., Travis, M., Doherty, C., et al. (2016). Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genetics in Medicine, 2016, June 23. Epub ahead of print. Abstract retrieved December 6, 2016 from PubMed database.

Shamseldin, H., Swaid, A., and Alkuraya, F. (2013) Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing. Genetics in Medicine, 15 (4), 307-309. (Level 5 evidence)




Policies included in the Medical Policy Manual are not intended to certify coverage availability. They are medical determinations about a particular technology, service, drug, etc. While a policy or technology may be medically necessary, it could be excluded in a member's benefit plan. Please check with the appropriate claims department to determine if the service in question is a covered service under a particular benefit plan. Use of the Medical Policy Manual is not intended to replace independent medical judgment for treatment of individuals. The content on this Web site is not intended to be a substitute for professional medical advice in any way. Always seek the advice of your physician or other qualified health care provider if you have questions regarding a medical condition or treatment.

This document has been classified as public information.