Detection: These conditions may often go undetected by traditional serum screening and ultrasounds.

Early intervention: Early screening can guide the management of the pregnancy or allow decisions such as delivery in a tertiary centre. For some of the conditions on the screen, early interventions can help reduce the risk of serious complications, as well as improve the health outcomes as the child continues to grow. Being prepared can provide the opportunity to plan for future medical needs such as surgery, medication, occupational therapy, physical therapy and special education.

Frequency of occurrence

Unlike Down syndrome, which occurs more frequently in mothers who are 35 and older, microdeletions occur in pregnancies at the same rate for mothers of any age. A 20-year-old has the same risk as a 45-year-old. Additionally, in most microdeletion cases, there is no previous family history as these chromosomal deletions typically occur by chance in the sperm or egg, leading to conception.