Microarray is a valuable tool in investigation of fetal autopsy cases with at least one malformation

Aim To evaluate the usefulness of microarray in fetal autopsy cases with or without malformations. Introduction Microarrays were performed as part of autopsy investigation on 90 cases, including stillbirths, fetuses that died in utero or were terminated due to abnormal ultrasound findings between February 2009 and September 2011. Methods Microarray was performed using the BlueGnome Cyto-chip oligo ISCA 60K array platform. Microarray results and autopsy reports of all cases were reviewed to determine the presence of any fetal malformations and to categorise the positive microarray findings as causative, of unknown clinical significance or not causative. The number of causative findings identified by microarray in cases with at least one malformation was compared to the number of causative findings identified in cases without any malformations. Results Five microarrays failed. Of the remaining 85 cases with microarray results, 53 cases had at least one malformation and 32 cases had no malformation. Four cases (7.5%) with one or more malformations had a causative finding on microarray, compared to no cases without any malformations. Conclusions Microarray is a valuable investigation in fetal autopsy cases with at least one malformation, but not for those without any malformation.