VERITAS specialists will present different clinical cases that will demonstrate, in practice, the potential of prenatal genomics to improve and accuracy of prenatal diagnosis, and provide key information in the event of a fetal malformation. The symposium will feature physicians Luis Izquierdo and Vincenzo Sirigliano, Medical Director and Technical Director respectively at Veritas.
The role of exomes and genomics in fetal medicine and their current and future potential will be the main topic of the symposium to be held by Veritas in Seville on May 26 within the framework of the 31st Congress of Obstetrics and Gynecology and Ultrasound organized by the Spanish Society of Obstetrics and Gynecology (SEGO).
The symposium will see the participation of Doctors Luis Izquierdo and Vincenzo Sirigliano, Medical Director and Technical Director, respectively, at Veritas, along with specialists in genetics and ultrasound from Universitario de La Paz and the University of Seville’s Faculty of Medicine. As part of its development, various clinical cases will be presented on the innovative application of genetics in fetal medicine, one of the greatest champions of the conference.
Genome and exome sequencing are tools with great diagnostic potential that can provide relevant information in various cases of embryonic malformations.
In the same way, genome and exome analysis can help determine the diagnosis, and sometimes also the prognosis, of abnormalities detected by prenatal ultrasound and make the most appropriate decisions, especially in those questionable cases where other techniques are used that do not provide conclusive information.
In general, fetal anomalies are detected in 2-5% 1 of pregnancies, and these anomalies are responsible for about 1 20% of perinatal deaths. In pregnancies in which structural abnormalities are detected, with a normal karyotype and microarray, exome sequencing (WES) increases the diagnostic yield between 50–80%2, and this percentage increase varies in different indices.
The seminar will analyze different prenatal diagnostic strategies and decide on the most appropriate test according to the clinical information available in each case, as well as the family’s medical history.
“The widespread use of genome and exome sequencing applied to fetal and neonatal medicine allows for a more accurate and rapid diagnosis of fetal health,” says Dr. Luis Izquierdo, VERITAS Medical Director.
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