Editorial
Dimitris Loutradis
Professor, Director of 1st Department of Obstetrics and Gynecology, School of Medicine National and Kapodistrian University of Athens
Fetal medicine and prenatal diagnosis have seen remarkable advancements in recent years, transforming the way healthcare providers detect and treat conditions before birth. Innovations in imaging, genetic testing, and in-utero interventions are improving pregnancy outcomes and offering hope to families.
Firstly, traditional 2D ultrasound has been enhanced by 3D and 4D imaging, allowing for more detailed visualization of fetal anatomy. Advanced Doppler ultrasound techniques help assess blood flow and detect congenital heart defects with greater accuracy. Moreover, fetal magnetic resonance imaging (MRI) is now used alongside ultrasound to provide detailed images of the fetal brain, spine, and organs. This is especially useful in diagnosing neurological conditions such as spina bifida and brain malformations. AI-powered algorithms can now assist radiologists in analyzing fetal ultrasound and MRI scans, improving accuracy in detecting abnormalities such as congenital heart disease and skeletal dysplasias. Non-invasive prenatal testing has revolutionized prenatal screening by detecting fetal DNA in maternal blood. Chorionic villus sampling and amniocentesis remain gold standards for confirming chromosomal and genetic disorders, while advancements in microarray technology and next-generation sequencing have increased their diagnostic accuracy. Furthermore, for fetuses with suspected genetic disorders, exome sequencing (which examines protein-coding genes) and whole-genome sequencing (which analyzes the entire genome) provide more precise diagnoses. This is particularly useful for identifying rare diseases.
In groundbreaking research, scientists are exploring in-utero gene therapy for genetic disorders like sickle cell disease and cystic fibrosis. While still experimental, early results show promise in preventing or minimizing disease progression before birth. Regarding fetal surgery, conditions like myelomeningocele can now be treated through open fetal surgery, which involves operating on the fetus while still in the womb. This approach has been shown to improve motor function and reduce the need for postnatal surgery. Fetoscopic surgery allows doctors to treat certain conditions like twin-to-twin transfusion syndrome and congenital diaphragmatic hernia without making large incisions. Experimental approaches using stem cells and gene-edited cells aim to treat conditions like brittle bone disease and immune deficiencies before birth. These therapies hold great potential but require further research.
The present issue focuses on the use of ultrasound in obstetrics and gynecology. With continued research and technological innovation, women’s care will continue to improve.