Pattern of Clinical Genetics Referral Following Perinatal Postmortems

Abstract

Fetal loss can be spontaneous or induced following findings on the anomaly scan. This study aims to (1) ascertain referral rates and patterns of referral to clinical genetics (CG) triggered by postmortem (PM) findings and (2) improve the quality of care offered to those families at risk of recurrence. A review of all PM reports during 2007 and 2008 was undertaken. We collected clinical and demographic information on all those cases in which a recommendation for referral had been or should have been made. During the study period, 549 PMs were conducted, of which 72 (13%) had a recommendation for referral to CG. A further 30 (5%) cases were identified in which a recommendation for referral to CG should have been made. Of the 72 cases with a recommendation for referral to CG, 54 cases were identified within the catchment area. Of these, 29 (54%) resulted in a referral to Sheffield CG, with an average of 17 weeks' waiting time for referral. In >90% of cases it was possible to clarify diagnosis and offer additional information. A small proportion of families declined referral to CG. By mapping the process from PM report to potential referral to CG, we have been able to highlight areas of clinical concern and improve clinical practice. This study has also enabled us to gain a better understanding of the patient referral and clinical care pathways involved. This, in turn, has provided a clinical focus within the joint histopathology-genetics multidisciplinary meetings to enable discussion of potential referrals.

Need for Fetal Autopsy and Genetic Diagnosis in Fetal Limb Anomalies

“…While fetal postmortem evaluation is ideally recommended in all cases, it is often declined [4]. Further, genetic consultation is not always sought thus precluding attempts at precise diagnosis [5].…”