Predicting Severity of Congenital Diaphragmatic Hernia with Fetal Imaging

A team at the Colorado Fetal Care Center is exploring the best fetal imaging techniques to predict the severity of congenital diaphragmatic hernia (CDH) so care teams can anticipate the need for extracorporeal membrane oxygenation (ECMO) and counsel families about what to expect postnatally. OB-GYN and maternal fetal medicine fellow Lamia Al-Amri, MD, led a retrospective study that looked at the well-established prognostic protocol at the Colorado Fetal Care Center for diagnosing left-sided CDH, using data from ten years.

Providing guidance for fetal imaging and CDH

Fetal centers vary in which imaging tests they use and when they use them to predict the severity of CDH and need for ECMO. As a high-volume center that has cared for more than 240 babies with CDH since 2012, our CDH experts are helping inform a standardized approach for prognosticating CDH severity and care needs. The Colorado Fetal Care Center’s dedicated CDH multidisciplinary care team (including maternal fetal medicine, pediatric surgery, neonatology and pediatric radiology experts) has had successful protocols for diagnosing CDH and predicting the severity of the disease for more than a decade. These protocols include timing and imaging type during pregnancy. This approach has helped us achieve some of nation’s best CDH outcomes and survival rates. Our researchers hope fetal centers across the globe can apply our learnings to better advise families and plan for pre and postnatal CDH care.

"Over the years we’ve all learned from each other, from our own areas of expertise, and that carries over to patient care, particularly during family meetings," says Henry Galan, MD, maternal fetal medicine specialist and fetal surgeon at the Colorado Fetal Care Center. "The patient gets to hear from the MRI specialist, the MFM on the prenatal side, neonatology, surgery and genetics — all in one setting." 

Understanding fetal ultrasound and MRI for CDH prognostication

When families first come to the Colorado Fetal Care Center for a CDH diagnosis, they have a fetal MRI and ultrasound, typically at 24 weeks’ gestation. About 10 weeks later, the team runs both scans again. These scans gather lung-to-head ratio (LHR), observed-to-expected LHR (O/E LHR), O/E total lung volume and percent predicted lung volume (PPLV). We use the results of these scans to predict the severity of CDH so we can plan for post-delivery care such as the need for ECMO. In 2024 alone, the center performed more than 3,000 fetal ultrasounds and more than 300 fetal MRIs.

The retrospective study explored CDH cases from 2013 to 2023 with at least one ultrasound and one fetal MRI at 24 weeks and again at 34 weeks' gestation.

"All of the prognostic measures, whether they be from ultrasound or MRI, were actually very good at predicting the need for ECMO," Dr. Al-Amri says. "However, the most sensitive prognostic measure was the one derived from MRI at 34 weeks."

Key findings for predicting CDH severity

Our findings uncover several helpful learnings for maternal fetal medicine providers:

• An early ultrasound at 24 weeks is very good at prognosticating how sick a baby will be after delivery and their need for ECMO. This matters since ultrasounds are typically more affordable and accessible at different OB-GYN offices across the country, especially in rural areas without access to a pediatric radiologist.
• If a family doesn’t receive a diagnosis until later in pregnancy, they can feel confident that the 34-week fetal MRI is the best marker of the severity of CDH, still allowing plenty of time to optimize post-delivery planning and predict ECMO use.
• O/E LHR via ultrasound and PPLV via MRI at 34 weeks’ gestation were the best predictors of ECMO use in newborns.
• Even though an ultrasound is an accurate predictor of severity, there is significant benefit to receiving a fetal MRI from a major fetal care center who specializes in this type of imaging and performs them regularly. A fetal MRI can also look for structural abnormalities that an ultrasound might not detect.

"The collaborative aspect of this study was really wonderful," Dr. Al-Amri says about this work during her fellowship. "I got to work with every single specialist who is taking care of the pregnant patients prenatally and taking care of the baby postnatally. I was very lucky to work with doctors who have a ton of experience with CDH, and I learned a lot from them."

Looking ahead, the team plans to continue to explore different markers that can help provide insight into disease severity for babies with CDH.