Severe Congenital Diaphragmatic Hernia (CDH) Case: FETO Management & Unexpected Findings with Dr. Beth Rymeski
With Dr. Beth Rymeski · hosted by Dr. Jill Knepproth
Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
The patient was a 33-year-old G3P2 diagnosed with CDH on routine 20-week ultrasound and seen at around 24 weeks.
The left lung was so small they couldn't even get a measurement (less than 1 mL).
The O/E by trace was 14%.
This case represents severe, severe CDH.
While the balloon was in place, the lungs showed some growth but it was shy of 20%, making this a non-responder.
There was some interval growth in the right lung, but overall still really poor numbers.
The baby was immediately put on ECMO in the delivery room.
The baby had only 6 pairs of ribs at the time of birth, missing a lot of ribs.
The baby had a spinal kyphosis.
The baby had no anus (anorectal malformation).
The cardiac anatomy was determined to be a right dominant double aortic arch with narrowing on the right and atresia on the left, after considerable back and forth about the actual anatomy.
The baby remained on ECMO for several weeks.
Multiple attempts were made to wean off ECMO; the team could get down to a certain point but could never get below that threshold.
After discussion with the family, they decided to withdraw support, and the baby passed around 3 weeks of life, never making it off ECMO.
Radiology reviewed the prenatal imaging retrospectively, knowing what was found postnatally, and still could not identify the rib, spinal, and cardiac anomalies.
Despite advanced prenatal imaging, we still miss some pretty significant findings.
FETO uses a fetoscope to insert a balloon into the fetal trachea to temporarily block it, trapping fluid in the lungs to allow expansion and growth.
Imaging showed the tip of the liver reaching all the way up to the apex of the chest.
The O/E is the observed to expected lung to head ratio.
The PPLV on MRI was 7%.
The balloon was placed early at 27 weeks and 4 days.
This patient was the ideal case for FETO, with not a single hospitalization stay.
The balloon was removed at 34 weeks.
A non-responder is a fetus with CDH who received FETO but did not show any improvement in lung growth.
Post-FETO imaging showed actual lung volume measurement just over 2 mL on the left side (compared to less than 1 mL initially).
The patient went into labor at 37 weeks and 3 days and had a vaginal delivery.
The Apgars for the baby were 2 and 1.
The baby had several unexpected findings after delivery, despite extensive prenatal imaging.
Anorectal malformations are rarely diagnosed prenatally.
Genetic testing showed only a few variations of unclear significance.
The team was not confident they could repair the cardiac defect, especially for a baby who couldn't come off ECMO due to limited lung volume.