No parent wants to learn their child has a genetic condition. When the diagnosis is trisomy 18 or Edwards syndrome, they will be devastated. This condition leads to delays in physical growth as the fetus develops, and children with this diagnosis do not live for very long. If they do, they will have severe intellectual challenges.
What Causes This Genetic Condition?
When parents receive this diagnosis, they want a trisomy 18 overview. They need to know what their child will be facing and other critical information. Children with this condition tend to have a low birth weight, and they will be born with multiple birth defects. Identifying a child with this condition is typically easy, as specific physical characteristics characterize it.
What Causes Edwards Syndrome?
Parents often want to know if there’s anything they could have done to prevent their child from receiving this diagnosis. Edwards syndrome occurs when a fetus has an extra copy of chromosome 18. The mother’s age when she gets pregnant plays a role in whether the child develops this condition. However, Edward’s syndrome does not run in families. Less than 1% of families have more than one child with this condition.
Trisomy 18 Prevalence
Medical experts say one baby out of every 5,000 live births will have this syndrome. However, one in 2500 pregnancies involves a baby with Edwards syndrome. Most of these pregnancies don’t make it to full-term, or the babies are stillborn.
Defining Characteristics of Edwards Syndrome
A child with Edwards syndrome will not be very active in the womb. The placenta will be small and have a single umbilical artery. The doctor may be able to see birth defects on an ultrasound, and there will be excessive amniotic fluid, a condition known as polyhydramnios.
Children born with Edwards syndrome will have decreased muscle tone and low-set ears. The internal organs will not have formed fully, or they will not function as intended. The child will likely have severe intellectual disabilities, and they will have a weak cry. Children with this condition typically have a small head, mouth, and jaw, and may have club feet or overlapping fingers. The infants rarely respond to sound.
Infants with trisomy 18 often have kidney disease and congenital heart disease when they are born. They may struggle to breathe and have scoliosis or hernias. Abdominal wall and gastrointestinal tract issues are common.
Heart problems remain the most common issues seen with these children. They remain the leading cause of premature death among these babies, followed by respiratory failure. Other issues may also arise with the child, beyond those outlined above.
Diagnosing Edwards Syndrome
Doctors typically detect Edwards syndrome during routine prenatal ultrasound screening. They monitor fetal activity, measure amniotic fluid volume, and assess placental size. If any signs of this genetic condition are seen, the doctor may order additional testing to confirm the diagnosis.
Treating Trisomy 18
Parents want to know if there’s any treatment for infants with trisomy 18. Comfort care will be the priority, but based on the severity of the condition, other treatments may be offered. The infants may have assistance with feeding and receive cardiac treatment. Doctors may also provide orthopedic treatment and psychosocial support for family members.
Sadly, there is no cure for trisomy 18. Less than 10% of infants with this condition survive more than one year after birth. A large percentage pass within the first week of life. Parents often feel overwhelmed when they hear these statistics, but they should focus on the time they have with the infant. Every moment is precious. Spending time with their little one is the most important thing.