Radiologists and genetic counselors have distinct perspectives and expertise; both should be part of genetic counseling teams who provide vital advice to expectant parents in the diagnosis and management of complex fetal anomalies.
Indeed, these specialists at the Fetal Medicine Institute of Children’s National Health System in Washington, D.C., make their case in the April issue of Pediatric Radiology.
Genetic counselors help couples make informed decisions about pregnancies. They provide radiologists interpreting fetal images with detailed family, medical, and pregnancy history, including prior genetic screening or test results. Such information could include knowledge about increased risk for Down syndrome or another chromosome abnormality, an expectant mother with lupus, or a family history of with Stickler syndrome, an autosomal-dominant connective tissue disorder. Working together, genetic counselors and radiologists can make better diagnoses, according to the authors. They cite as an example that if a radiologist identifies ambiguous genitalia, a woman’s maternal serum estriol levels should be reviewed and additional testing offered.
Dorothy I. Bulas, MD, chief of diagnostic imaging and radiology, and co-authors write that when a radiologist and a genetic counselor together counsel expectant parents about abnormal
prenatal imaging findings, they can better address the potential nature of the anomalies, their impact on fetal growth and development, and when relevant, delivery management and anticipated range of outcomes for a child.
Using electronic medical record data and picture archiving and communications systems, comparable prior cases can be identified if such information about conditions and outcomes will be beneficial to expectant parents. Radiologists and genetic counselors can work together to develop reasonable differential diagnoses and determine the best approaches for parental counseling.
The authors recommend that before meeting with expectant parents, radiologists and genetic counselors should discuss maternal medical history, including prior pregnancies, family history, genetic screening and test results, prior and current imaging, possible differential diagnoses, and recommendations for additional imaging and/or inclusion of other clinical specialists on the medical team. They should also assess the educational level and prior knowledge of the expectant parents, their overall emotional state, and known family dynamics. When meeting with the couple, each team member should describe their role; the radiologist’s responsibility is to explain the results of imaging and to recommend additional examinations if applicable.
“While radiologists have typically not been involved in primary counseling, the fetal imager’s experience in identifying multiple fetal anomalies, understanding the big picture and familiarity with long-term outcomes can be of tremendous benefit to the family,” wrote the authors.
Teamwork in prenatal evaluations: The role of radiologists and genetic counselors. Appl Radiol.