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Letters and emails |
It was enlightening to read the article by Sharma et al.1 The authors have carried out a thorough review and discussed a comprehensive list of conditions relevant to any professional caring for pregnant women. Perhaps another condition that should be included on the list is retinoblastoma.
Retinoblastoma is a tumour arising from the retina of the eye that usually develops in children but can also occur in adults. Approximately 40% of people with retinoblastoma have an inherited form of the condition. As the condition is increasingly diagnosed early and treated successfully, most patients survive into adulthood. All such individuals have a 1 in 2 chance of passing the defective gene on to their children, who then develop the eye tumour.
The condition assumes special significance, not only in pregnant women who have had a retinoblastoma, but also if their partner is a retinoblastoma survivor. These couples need to be counselled regarding the possibility of prenatal diagnosis. If genetic tests carried out on a couple have already identified the tumour-predisposing mutation, fetal DNA acquired by chorionic villus sampling or amniocentesis can be analysed to confirm or refute the diagnosis.2 In cases where the causative mutation is unknown, ultrasound of the fetal eyes may successfully identify a fetal retinoblastoma.3
Shalini Patni, MRCOG, Specialist Registrar in Obstetrics and Gynaecology1 and Anjum Gandhi, Consultant Paediatrician2
1. Royal Gwent Hospital, Monmouthshire, Wales, UK Email: shalinipatni{at}hotmail.com
2. Royal Glamorgan Hospital, Llantrisant, Wales, UK
References
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