
Genetics is the personal fingerprint of what we are in health and disease. The genomic revolution has opened the doors to our body and is now used extensively in diagnosis and in personalised medicine. This issue on ‘Genetics for Obstetricians and Gynaecologists’ in the series ‘Best Practice & Research: Clinical Obstetrics & Gynaecology’ explores the many facets of genetics from in utero life by pre-invasive genetic diagnosis using maternal blood to assisting invasive testing by analysis of fetal, placental and amniotic fluid samples. Such testing should begin with proper counselling.
What was considered for a target population who may most benefit from history and ultrasound markers has now moved into universal screening due to non-invasive testing. How to interpret, counsel and act on the results needs careful monitoring. The whole field is made more complex due to the discovery of genomic disorders and the contribution of epigenetics compared with the past when only the diagnosis of chromosomal disorders was possible. The arena has expanded from obstetrics to genetic implications in benign and malignant gynaecological disorders. This issue with nine chapters explores these and other technical issues and is an excellent read for medical professionals.