Honorary Professor in Paediatric and Perinatal Pathology Margaret.Evans@nhslothian.scot.nhs.uk+44 (0)131 242 7122+44 (0)131 242 7169 (Secretary) Department of PathologyRoyal Infirmary of EdinburghEdinburgh BioQuarter51 Little France CrescentEdinburgh EH16 4SA Current ResearchEdinburgh Birth Cohort - 2016-2021. Theirworld Edinburgh Birth Cohort. Boardman JP (PI). Theirworld.org, £1.5m. This study seeks to follow preterm infants’ development with regard to delivery, health and social circumstances. This study examines the link between intrauterine environment and the development of neonates. It grew out of a study looking at the link between brain injury in the neonatal period and inflammation of the umbilical cord and extra placental membranes with Dr James Boardman (Senior Lecturer in Neonatal Medicine). As a major collaborator on of this grant I wrote the study protocol for examination of the placenta and was instrumental in having the placenta recognised as a fundamental part of the study.Diagnostic exome sequencing of a fetal population with Prof. Tim Aitman (Professor of Molecular Pathology and Genetics) and Prof. Mary Porteous (Consultant Clinical Geneticist). There were no specific grants, as Prof Aitman met the costs from his start-up grant. I was lead investigator on the exome study of fetal abnormalities, playing the key role in case selection, phenotyping and interpretation of genotype-phenotype correlation. The expertise that I brought in pathological phenotyping and fetal autopsy were key to the success of this study in which I was lead author on the recent publication (Black et al, 2016 De novo mutations in autosomal recessive congenital malformations. Genetics in Medicine (2016)18,1325–1326.Sudden Infant death and genetics. This grant was from Newlife for 15,000GBP (number Grant ref: SG/11-12/11 Genetics of SUDI). Studies are ongoing with workers in other centres around the UK. As a key collaborator I am responsible for identifying particular cohorts of interest within the study group and for retaining detailed records of pathological changes and ensuring appropriate consent and authorisation is in place.Public Positions heldAdvisor to the Office of National Statistics (England and Wales) on coding for Stillbirth and Neonatal death.Invited as expert advisor (Perinatal Pathology) of multidisciplinary subgroup of the International Stillbirth Alliance looking at coding of Stillbirth and Neonatal Death. Founder member of the European Expert Placenta Panel.Advisor to the Ministry of Justice (England and Wales) on Coroners work and investigation of Stillbirth.Independent assessor for the Health Ombudsman in Wales.Independent advisor to MBRRACE-UK on deprivation and PM provision, cause of death etc.Expert advisor and topic expert assessor for MBRRACE–UK confidential enquiry into antepartum stillbirth.Expert advisor and topic expert assessor for MBRRACE–UK confidential enquiry into intrpartum stillbirth.External Assessor and Advisor for ESMiE confidential enquiry into perinatal deaths where some of the care has been at a midwifery led unit or where the death is thought to be related to something which happened during labour or delivery.Expert advisor with regard to development of the UK Perinatal Mortality Review Tool (PNMRT)Instigator of initiative to develop and support training in Placental and Perinatal Pathology in India.Member of the Scottish Government Stillbirth group and bereavement subgroup.Member of small select committee working on behalf of Scottish Government to revise and develop new authorisation forms for autopsies in stillbirths and fetal anomalies.Invited expert member (Perinatal Pathology) of task force convened by Scottish Government to look at pre 24 week registration.Specialist advisor on Perinatal Bereavement Care - Bereavement Care Pathway group (SANDS and Scottish Government) .Member of the Editorial Expert Panel Review for the development of the National Care Bereavement Pathway Scotland with regard to Stillbirth, Neonatal death, SUDI and Fetal Anomaly.Founder member of Health Care Animations – a company formed to introduce accessible health care messages around pregnancy and early years. http://vimeo.com/healthcareanimationsInvolved with improving public perception of perinatal pathology – created and directed animation for parents with SANDS lothians: Parent to Parent: Post-mortem Authorisation.Expert panel member and advisor for the development of teaching resources relating to bereavement and loss - leading to an instructive animation with Health Education Scotland on Post mortem procedure - Discussing Authorised (Hospital) Post Mortem Examination After Stillbirth or Neonatal Death.Member of the Editorial Board for the Association of Clinical PathologistsWeb LinksFull publication listSelected PublicationsCardiac Genetic Predisposition in Sudden Infant Death Syndrome. Tester D.J., Wong L.C., Chanana P., Jaye A., Evans JM., Fitzpatrick D., Evans M. Fleming P., Jeffrey I., Cohen M., Tfelt-Hansen J., Simpson MA., HBehr ER., Ackerman MJ. J Am Coll Cardiol. 2018 Mar 20;71(11):1217-1227Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study Männikkö, R; Wong, L; Tester, D J; Thor, M G; Sud, R; Kullmann, DM; Sweeney, M G; Leu, C; Sisodiya, S M; FitzPatrick, D R; Evans, MJ; Jeffrey, I J M; Tfelt-Hansen, J; Cohen, M C; Fleming, P J; Jaye, A; Simpson, M A; Ackerman, M J; Hanna, M G; Behr, Elijah R; Matthews, E. Lancet. 2018 Apr 14;391(10129):1483-1492. Epub 2018 AprIn a genomic era placental pathology still holds the key in the non- dysmorphic stillbirth. Campbell J., Armstrong K., Palaniappan N., Maher E., Glancy M., Porteous M., Mckenzie K J., Evans M J Pediatr Dev Pathol. 2017 Placental Pathology and Stillbirth: A Review of the Literature and Guidelines for the Less Experienced. Kulkarni, A.D., Palaniappan N., Evans M J. J. Fetal Med. 2017 4: 177 De novo mutations in autosomal recessive congenital malformations. Black H A., Parry D., Atanur S., Ross D., Rose E., Warner J., Porteous M., Aitman T., Evans M J.: Genetics in Medicine 2016 18,1325–1326Fetal dysmorphology - still an essential art. Analysis of the limitations of Microarray in a fetal population and a look toward the genome sequencing era. Fletcher E, Porteous M, Maher E, McKenzie KJ, Evans M J. Pediatr Dev Pathol. 2016 Oct 27. This article was published on 2024-08-27