Edwards Syndrome (Trisomy 18)

Trisomy 21

• aka down syndrome

• resulting in facial characteristics, intellectual disabilities, and potential cardiac defects

trisomy 13

• aka Patau Syndrome

• severe intellectual disabilities and physical defects

• cleft lips, extra fingers/toes, and brain/heart structural issues

• fatal during infancy

trisomy 18

• aka Edwards Syndrome

• severe genetic disorder caused by an extra chromosome 18

• leading to significant developmental delays, heart/organ defects, and low birth weight

• results in miscarriage or stillbirth

signs of trisomy 18 (edwards syndrome) on ultrasound

• very little fetal activity

• single artery umbilical cord

• small placenta

• IUGR

• clenched hands with overlapping fingers

• strawberry shaped head

• clubfeet

• polyhydramnios

• cardiac defect (VSD)

transducer used

• 3.5-5 MHz curvilinear probe

Non-invasive prenatal testing (NIPT)

• a highly accurate blood test that detects fetal DNA in maternal blood

• usually available from 10 weeks onwards

trisomy 18/edwards syndrome is confirmed through…

• genetic testing —> identifies an extra chromosome 18
  

• amniocentesis

• chorionic villi sampling (CVS)

amniocentesis

• a prenatal diagnostic procedure

• typically done at 15-20 weeks

• removes a small amount of amniotic fluid for genetic chromosome, or infection testing

chorionic villus sampling (CVS)

• diagnostic prenatal test performed between 10-13 weeks of pregnancy to detect chromosomal abnormalities (ex. down syndrome) and genetic disorders by testing tissue from the placenta

treatment

• edwards syndrome has no cure

• treatment focus on supportive, symptomatic care to improve quality of life

• such as nasogastric, gastrostomy tube feeding, oxygen therapy, and management of infections

prognosis

• very poor prognosis w/ high rate of prenatal mortality

• for those that were born - have a low survival rate beyond the first year

• almost all pregnancies end in miscarriage or still birth

• those in their 3rd trimester about 40% w/ edwards syndrome dont survive during labor, nearly 1/3 of surviving babies deliver preterm

what are the most common indicators of edwards syndrome that us sonographers and doctors look during the ultrasound exam?

• clubfeet, clenched hands, and IUGR

which cardiac defect is frequently associated w/ edwards syndrome?

ventricular septal defect

what is the genetic cause of edwards syndrome?

caused by an extra chromosome 18

Edwards syndrome is also known as…

trisomy 18

what is the overall prognosis for infants diagnosed w/ edwards syndrome?

• poor with a high mortality rate within the first year