Alex Colberg, BS

Kathy Kenley, MS, CGC

Short Rib Polydactyly Syndrome (SRPS) – a Challenging Recurrence

• Define Short Rib Polydactyly Syndrome and the challenges of diagnosing without a known variant.
• Hypothesize the ethical and emotional impacts of diagnostic uncertainty in rare genetic conditions.
• Identify strategies for managing expectations and counseling when genetic testing lacks answers.
• Apply informed consent and compassionate communication in amniocentesis counseling when the variant is unknown.

Juliana Cranley, BS

Victoria Ballard, MS, CGC

Navigating the Diagnostic Process from Prenatal to Newborn

• Evaluate appropriate screening and diagnostic testing for a constellation of ultrasound findings including Brachycephaly, Choroid plexus cysts, ventriculomegaly, Ventral septal defect, aortic arch anomaly, and intrauterine growth restriction.
• Summarize psychosocial factors and cultural considerations for the patient that impact patient decision-making and counseling strategies.
• Identify considerations for navigating results disclosure when collaborating with other healthcare professionals.