Edwards Syndrome Flashcards
What is Edwards Syndrome also known as?
Trisomy 18
Trisomy 18 is a genetic disorder caused by the presence of an extra 18th chromosome.
What is the survival rate for babies with Edwards Syndrome?
Most babies die in pregnancy or before 1 year of age
The prognosis for infants with Edwards Syndrome is generally poor.
What are common physical symptoms of Edwards Syndrome?
- Microcephaly
- Overlapping fingers
- Rocker-bottom feet
- Low-set ears
- Clubfeet
- Decreased muscle tone
- Small physical size
These symptoms are characteristic of the condition.
What factor increases the chances of having a baby with Edwards Syndrome?
Maternal and paternal age
## Footnote
Advanced paternal age is associated with higher risks of chromosomal abnormalities. ‘
Name two associated congenital conditions with Edwards Syndrome.
- Heart disease
- Kidney disease
These conditions frequently occur alongside Edwards Syndrome.
What is a common feeding method for babies with Edwards Syndrome?
Feeding tube
Due to feeding difficulties, many affected infants require tube feeding.
What are the three types of Trisomy 18?
- Partial
- Mosaic
- Complete
Each type varies in the extent and severity of symptoms.
What is a key diagnostic test for Edwards Syndrome?
Combined screening test
This test assesses the risk of chromosomal abnormalities, including Edwards Syndrome.
What does the combined screening test also test for?
Down syndrome
The combined screening test evaluates multiple risks, including for Down syndrome.
Fill in the blank: The combined screening test may show an increased chance of having _______.
Edwards Syndrome
This screening helps identify pregnancies at higher risk for chromosomal abnormalities.
True or False: Edwards Syndrome only affects physical features.
False
It also involves serious internal organ abnormalities such as heart and kidney defects.
