The four cases below represent two prenatal and two pediatric genetic counseling cases of varying complexity. Each case includes non-patient facing and patient facing roles of a genetic counselor and includes pre-test and post-test counseling appointments. There are questions throughout the cases to check understanding and promote reflection.
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Standard Prenatal Case
Standard Prenatal Case
In this case, the patient attends a prenatal genetic counseling appointment after receiving positive cell free DNA screening results. In the pre-test appointment, the genetic counselor explains these results to the patient and facilitates decision making for next steps. The patient elects to pursue further genetic testing via an amniocentesis. In the post-test appointment, the genetic counselor explains the results of the amniocentesis.
Case
Linked image takes you to Standard Prenatal Case video series.
Case Documents
Credits
- Dana Goodloe, MPH, MS, CGC—genetic counselor
- Jessica Denton, PhD, MS, CGC—patient
- Kelli Carpenter, MS, R. Lynn Holt, MS, CGC, Jessica Denton, PhD, MS, CGC—case development
- Christopher Reed, Doctorre McDade, Courtney Garza—Videography, Editing, Production
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Complex Prenatal Case
Complex Prenatal Case
In this case, the patient attends a prenatal genetic counseling appointment after a complex heart defect was detected on a targeted ultrasound. In the pre-test appointment, the genetic counselor explains what this could mean for the pregnancy and facilitates decision making for next steps. The patient elects not to pursue genetic testing. In the post-test appointment, the patient returns after experiencing a miscarriage. Genetic testing was performed on the products of conception. The genetic counselor explains that the results were positive for a genetic condition called CHARGE syndrome.
Case
Linked image takes you to Complex Prenatal Case video series.
Case Documents
Credits
- R. Lynn Holt, MS, CGC —genetic counselor
- Meghan Bartos, MS, CGC —patient
- Samantha Stover, MS, CGC, Kelli Carpenter, MS, R. Lynn Holt, MS, CGC, Jessica Denton, PhD, MS, CGC —case development
- Christopher Reed, Doctorre McDade, Courtney Garza —Videography, Editing, Production
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Standard Pediatric Case
Standard Pediatric Case
In this case, the patient and her family attend a pediatric genetic counseling appointment because they are interested in genetic testing for a condition called neurofibromatosis type 1 (NF1). The patient received a diagnosis based on clinical diagnostic criteria in the past. In the pre-test appointment, the genetic counselor and medical geneticist meet with the family to discuss NF1 and genetic testing options. The family elects to proceed with testing. In the post-test appointment, the genetic counselor discusses the results and their implications for the patient.
Case
Linked image takes you to Standard Pediatric Case video series.
Case Documents
Credits
- Bryce Brown, MS, CGC —genetic counselor
- Ali Al-Beshri, MD —medical geneticist
- Kelli Carpenter, MS, R. Lynn Holt, MS, CGC, Jessica Denton, PhD, MS, CGC —case development
- Christopher Reed, Doctorre McDade, Courtney Garza —Videography, Editing, Production
We want to thank this wonderful family. This patient does have NF1, but her actual medical history and diagnostic journey are different than portrayed here. Pseudonyms and alternative family history information were used to protect the family’s privacy.
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Complex Pediatric Case
Complex Pediatric Case
In this case, the patient and his mother attend a follow-up pediatric genetic counseling appointment after the patient recently experienced a new medical problem. In the pre-test appointment, the genetic counselor and medical geneticist collect updated information about the patient and review previous genetic testing results. The genetic counselor and medical geneticist discuss ordering whole exome sequencing, and the mother elects to proceed with this test. In the post-testing appointment, the genetic counselor and medical geneticist explain the results and their implications. The patient is diagnosed with a rare genetic condition called Bainbridge-Roper’s syndrome.
Case
Linked image takes you to Complex Pediatric Case video series.
Case Documents
Credits
- Alicia Gomes, MS, CGC —genetic counselor
- Anna Hurst, MS, MD —medical geneticist
- Kelli Carpenter, MS, R. Lynn Holt, MS, CGC, Jessica Denton, PhD, MS, CGC —case development
- Christopher Reed, Doctorre McDade, Courtney Garza —Videography, Editing, Production
We want to thank this wonderful family. This patient does have Bainbridge Roper’s syndrome, but his actual medical history and diagnostic journey are different than portrayed here. Pseudonyms and alternative family history information were used to protect the family’s privacy.
