How Advances in Prenatal Testing are Helping Screen for Underdiagnosed, Yet Relatively Common Conditions with Melissa Maisenbach, Associate Director of Clinical Projects at Natera
In this episode, Melissa Maisenbacher, a genetic counselor and associate director of clinical projects with Natera, joins us to continue the conversation about the benefits of non-invasive prenatal testing (NIPT).
Melissa shares details on what conditions NIPTs typically screen for, including microdeletions, such as 22q11.2 deletion syndrome (22q11.2DS). She also highlights key 22q11.2DS findings from Natera’s SMART study, the largest prospective NIPT study ever performed. Through her work with Natera, and as a board member of the International 22q Foundation, Melissa helps educate families about 22q11.2DS and connects parents to critical resources. One way she does this is through the annual 22q at the Zoo events which raise public awareness about the condition. Volunteers spread awareness at their local or regional zoo and distribute fact sheets to educate guests and zoo visitors about 22q11.2DS.
Tune in to this episode to learn more about NIPT and 22q11.2DS from someone with first-hand experience.
Click this link to the show notes, transcript, and resources: outcomesrocket.health