Latest research on prenatal diagnosis in Marfan Syndrome pregnancies can help patients and their partners make decisions when starting a family acording to Caroline Ryder-Dobson. Caroline was a fourth year student at St George’s University of London at the time of her reserach, and spent summer 2017 working hard to analyse postal questionnaires from 20 couples in which one or both partners have Marfan syndrome. She analysed recipient questionnaires anonymously and produced the following abstract on the topic. This information will help with pre pregnancy genetic counselling for new parents, who often ask "what do other people in our situation decide?”
In 2017 Caroline was awarded the ‘Daniel Finkletaub Memorial Prize’ in memory of Daniel, former treasurer of the Marfan Trust, by his mother Carole and sister Elaine. We are very grateful for their continued support of promising medical students.
The Acceptability of Prenatal Diagnosis & Pre-implantation Genetic Diagnosis in Marfan Syndrome Pregnancies
Rider-Dobson C, Isekame Y MB, Aragon-Martin JA PhD, Child AH MD FRCP
Cardiology Academic Group, Molecular and Clinical Sciences Research Institute, St George’s, University of London.
In Marfan Syndrome (MFS), Fibrillin-1 mutation can be used to test pregnancy (prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD)). Sixteen couples where one or both partners had MFS answered a postal questionnaire. Seven had cardiac surgery: 10 had other serious operations.
Seven of 16 couples underwent PND for first pregnancy, 3 PGD and 6 neither. PND resulted in 3 unaffected and 4 affected foetuses. Three chose PGD and had one unaffected child each. Postnatal diagnosis reported 3 unaffected, 1 affected. In second pregnancies; 3 PND, 2 postnatal diagnosis, 1 sperm donation. In third pregnancies; 2 PGD, 1 PND.
All ten couples were satisfied with the processes and pleased they had persevered regardless of outcome. In addition 2 couples where both partners were affected and had one unaffected child each were then denied further assistance due to national policy, despite a higher risk (75%).
Each couple were pleased that they had tried, despite some negative outcomes, and would recommend PND/PGD to other similar couples. DNA mutation screening, PGD preparation and maternal age cut off of 39yrs, make early genetic counselling imperative.
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