Fetal structural anomalies — structured oral station (12 minutes)

Opening prompt — "Tell me how you interpret these findings."

Model response: ^[1][3]

• "Two separate things have been reported. The bright spot on the heart is an echogenic intracardiac focus, a common soft marker. The bright bowel, hyperechogenic bowel, is a different finding with a broader meaning. I would interpret each against her low-risk first-trimester screen, and I would refer to fetal medicine to confirm both and exclude any associated anomaly."^[3]
• "The echogenic focus in isolation, in a woman with a low-risk screen, is reassuring and does not need invasive testing."^[3]
• "Hyperechogenic bowel does need a work-up: detailed scan, microarray, cystic fibrosis carrier testing of the parents, and a congenital-infection screen for cytomegalovirus."^[1]

Probe 1 — "Why does the echogenic focus not worry you?"

• "It carries only a modest likelihood ratio — about 5.8 — and most isolated markers have a small effect on the pre-test odds. In the context of her low-risk combined screen, the residual risk of trisomy 21 remains very low. I would not amniocentese for an isolated echogenic focus."^[3]

Probe 2 — "The fetal-medicine review confirms hyperechogenic bowel with no other anomaly. Walk me through the work-up."

• "Microarray as the first-tier genetic test — karyotype would miss copy-number variants, and Wapner showed a 6% incremental yield in structurally abnormal fetuses."^[8]
• "Maternal and paternal cystic fibrosis carrier testing; maternal CMV serology to exclude recent infection; and a detailed scan to look for bowel dilation or perforation."^[1]

Probe 3 — "If microarray finds a pathogenic 22q11 deletion, what then?"

• "Refer to clinical genetics, counsel on the implications of 22q11 deletion syndrome, and involve the cardiac and neonatal teams in a multidisciplinary plan. The microarray result explains the findings and drives the delivery and postnatal plan."^[8][2]

Probe 4 — "She is still crying. Counsel her."

This is a scored domain. Demonstrate it out loud: ^[1]

• Move to her eye level, use her name, validate the fear: "I can see how frightening this is, and I am sorry it was sprung on you. Let me explain what each finding means."
• Brief plainly: "The heart spot, on its own, is reassuring. The bowel finding needs a few more tests, and we will know more over the next couple of weeks. You are not alone in this — our team will be with you at every step."
• Offer a written summary, a follow-up, and a named contact.^[1]

Probe 5 — "What will you tell her about the chance of missing something on a scan?"

• "Even a detailed scan detects most but not all anomalies, especially some heart and brain problems. I will be honest that a normal scan greatly reduces but does not eliminate the chance of a problem."^[1]