In addition to the above chromosomal abnormalities, you can optionally screen for five microdeletion syndromes associated with serious health problems:
- 22q11.2 Deletion (DiGeorge) Syndrome
- 1p36 Deletion Syndrome
- Angelman Syndrome
- Prader-Willi Syndrome
What are MICRODELETIONS?
A microdeletion is a when a small piece of a chromosome is missing. Some microdeletions are known to cause specific genetic syndromes. Unlike Down syndrome and many other conditions, the chance of having a child with a microdeletion is the same regardless of the age of the mother. So, a 28 year old has the same chance as a 38 year old – and a greater risk of having a child with a microdeletion than Down syndrome. The most common microdeletion syndrome is 22q11.2 deletion syndrome, also known as 22q or DiGeorge syndrome, which occurs in 1 in 2000 live births. Prenatal screening for microdeletions is particularly important because they can be difficult to diagnose in infants, and early childhood intervention can have a significant positive impact on the long term health of the baby.
To learn more about all the above these conditions, click here (this is a link to the Conditions pdf)