Protocol for Optimizing Detection of Chromosome Abnormalities in Miscarriage and Stillbirth [21C]. (May 2016)

• Record Type: Journal Article
• Authors: Lueking, Amy; Kubendran, Shobana; Dong, Frank; Duong, Jennifer; Garcia, Sapphire; Farley, Darren
• Is Part Of: Obstetrics and gynecology. Volume 127(2016)Supplement 1
• Publication Date: 2016-05
• Subjects: Obstetrics -- Periodicals; Gynecology -- Periodicals; 618
• DOI: 10.1097/01.AOG.0000483370.64487.2e
• Languages: English
• ISSNs: 0029-7844

Abstract

Abstract : INTRODUCTION: Chromosomal abnormalities are associated with 50% of spontaneous miscarriages and approximately 6–13% of stillbirths. Cell cultures for karyotyping do not grow in about 50% of products of conception. Microarray is a genetic test that can analyze DNA from non-viable fetal tissue. This study examines whether establishing a protocol for chromosome and microarray testing on stillbirths and miscarriages increases diagnostic yield. METHODS: A retrospective chart review was conducted on cases of spontaneous abortion or fetal demise when genetic testing was requested, comparing 2 time periods (pre-protocol 3/13/2012 to 3/13/2013, and post-protocol 3/14/13 to 3/14/14). Diagnostic yield was compared by using number of "undetermined test results" in the pre- and post-protocol study periods. RESULTS: A total of 55 (pre) and 52 (post) patients were analyzed. Post-protocol patients were younger (31 vs 28 years, pre and post, P =.0076), and had earlier gestational age at demise (24.2 vs 19.4 weeks, pre and post, P =.0261). Karyotype was done more frequently in pre-protocol (98.2% vs 59.6%, pre and post, P <.0001); microarray was used more in post-protocol group (3.6% vs 63.5%, pre and post, P <.0001). Undetermined test results occurred more frequently in the pre-protocol group compared to post-protocol (27.3% and 0%, pre and post, P =.0004). CONCLUSION: Using a protocol of reflexing to microarray or proceeding directly with microarray gives a higher diagnostic yield in the genetic evaluation of miscarriage and stillbirth. Further research is needed to assess whether proceeding directly to microarray is cost effective in assessing for chromosomal defects as a cause of demise.