What are the symptoms of Edwards syndrome (trisomy 18)?

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What are the symptoms of Edwards syndrome (trisomy 18)?

Symptoms of Edwards syndrome (trisomy 18) typically include poor growth before and after birth, multiple birth defects and severe developmental delays or learning problems. Symptoms are present during pregnancy and after your child is born.

Symptoms of Edwards syndrome (trisomy 18) during pregnancy

Your healthcare provider will look for signs of Edwards syndrome (trisomy 18) during a prenatal ultrasound, including:

  • Very little fetal activity.
  • A single artery in your umbilical cord.
  • A small placenta.
  • Birth defects.
  • Your fetus is surrounded by too much amniotic fluid (polyhydramnios).

An Edwards syndrome diagnosis can result in a live birth, but trisomy 18 most often causes a miscarriage during the first three months of pregnancy or the baby is stillborn.

Characteristics of Edwards syndrome (trisomy 18) after birth

After your baby is born, your child likely has physical characteristics of Edwards syndrome (trisomy 18), including:

  • Decreased muscle tone (hypotonia).
  • Low-set ears.
  • Internal organs forming or functioning differently (heart and lungs).
  • Issues with cognitive development (intellectual disabilities), which are typically severe.
  • Overlapping fingers and/or clubfeet.
  • Small physical size (head, mouth and jaw).
  • Weak cry and minimal response to sound.

Severe symptoms of Edwards syndrome (trisomy 18)

Because children diagnosed with Edwards syndrome (trisomy 18) have underdeveloped bodies, the side effects of the condition have serious and often life-threatening consequences, including:

  • Congenital heart disease and kidney disease (present at birth).
  • Breathing abnormalities (respiratory failure).
  • Gastrointestinal tract and abdominal wall issues and birth defects.
  • Hernias.
  • Scoliosis.

Issues relating to the heart affect nearly 90% of children diagnosed with Edwards syndrome (trisomy 18) and are the leading cause of premature death among infants who have the condition, next to respiratory failure.

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