Miscarriage chromosome testing: utility of comparative genomic hybridization with reflex microsatellite analysis in preserved miscarriage tissue

ObjectiveTo assess the utility of comparative genomic hybridization (CGH) and reflex microsatellite analysis (MSA) for chromosome analysis of preserved miscarriage tissue.DesignObservational study.SettingAcademic recurrent pregnancy loss program.Patient(s)Patients with recurrent early pregnancy loss, defined as two or more miscarriages at <10 weeks, and at least one preserved miscarriage specimen sent for CGH.Intervention(s)Preserved miscarriage specimens were sent for CGH. If results were euploid female (46,XX), reflex MSA was performed to assess if the result was of miscarriage or maternal origin.Main Outcome Measure(s)Results were recorded as either informative or uninformative. Uninformative results were classified as “CGH failed” or “maternal contamination.”Result(s)Fifty-eight women with 77 miscarriage specimens met the criteria. CGH failed in nine of the preserved miscarriage specimens owing to minimal pregnancy tissue, and two owing to poor-quality DNA. Twenty-two of the 33 specimens reported as 46,XX by CGH were sent for MSA; maternal contamination was confirmed in 23% (5/22). CGH was therefore informative in 79% (61/77) of the specimens; 64% (39/61) were euploid, and 36% (22/61) were noneuploid, with a 46,XX/46,XY ratio of 2.5.Conclusion(s)CGH with reflex MSA is useful for obtaining chromosome results in preserved miscarriage specimens, although informative results were achieved in only 79% of specimens. Maternal contamination should be assessed after an initial diploid female result.