Edwards syndrome is a relatively common genetic disorder caused by trisomy of chromosome 18. The parents of a child with Edwards syndrome are completely healthy regarding this condition. The cause of the pathology is the nondisjunction of chromosomes during the maturation of the parents' germ cells.
The disease can be detected in the early stages of fetal development through tissue sampling – amniocentesis as well as through careful ultrasound examination of the fetus conducted by a specialist.
At the Top Ichilov Medical Center, highly qualified specialists work in both genetic counseling and visual diagnostics (ultrasound). The responsibility of the physician conducting the ultrasound examination in the early stages of development is extremely high – a missed diagnosis can lead to the birth of a child with a genetic syndrome.
The disease is incurable. The incidence among newborns is 1 in 7000, with the prevalence among girls being three times higher.
Edwards Syndrome - A Severe Genetic Pathology
Patients suffer from multiple developmental defects – altered shape of the skull, ears, nose, eye developmental defects, numerous anomalies of the musculoskeletal system, cryptorchidism, hypospadias. Intellectual development is severely delayed, and almost all patients with the syndrome have cardiovascular system defects, with about half having anomalies of the digestive system. Only 10% of patients survive past one year.
Pregnancy is characterized by weak fetal activity, polyhydramnios, a small-sized placenta, and low fetal weight.
The Importance of Prenatal Diagnosis
The severity and incurability of the genetic pathology, combined with the relative frequency of the syndrome, necessitate thorough prenatal checks, especially for individuals at increased risk (age over 30, exposure to harmful environmental factors, working with toxic substances).
Modern medicine provides the opportunity to undergo dozens of genetic tests for common pathologies, as well as to assess the condition of the fetus in the early stages of development using high-tech equipment. Thorough diagnostics allow for timely medical abortions based on indications and prevent the birth of a child with severe developmental defects.
At the Top Ichilov Medical Center, you will undergo the necessary examinations and genetic counseling from a specialist who will help you plan a healthy pregnancy and give birth to a healthy child.