One of the most important steps in caring for a baby with a birth defect is careful diagnostic testing and interpretation of the results. While it can be very devastating to find out that your baby has an abnormality, prenatal diagnosis can allow time to make informed decisions, consider and discuss all your options, and plan for what lies ahead.

Our patients have access to the most advanced diagnostic equipment and an experienced team that is specially trained to identify and diagnose rare fetal anomalies. We see rare, complex birth defects every day. This level of experience helps us provide answers to virtually all questions and contributes to the best possible outcomes for your baby.

At your first visit with us, you will undergo a full day of testing and meet with multiple members of our team. Our goal is to capture the best possible understanding of your unique situation, down to the tiniest detail that can confirm or change the suspected diagnosis. Sometimes this means we will repeat a prenatal screening test you’ve already had elsewhere in order to get a clearer picture of your baby’s condition and plan the most successful course of treatment.

In addition to our experienced sonographers and imaging technicians, each scan you have is reviewed by a highly specialized attending radiologist. The final result of each scan is reported to the maternal-fetal medicine specialist (MFM), who meets with you at the end of the day to thoroughly explain the results and answer any questions you may have.

Our fetal imaging experts work very closely with the MFM, who consults with your referring physician(s) to confirm your baby's diagnosis, provide a thorough analysis, and coordinate care.

Advanced diagnostic testing

Below you will find a list of scans you may go through during your time with us, with detailed explanations of how they are performed and why they are important.

• Detailed fetal ultrasound
• Fetal echocardiogram
• Fetal MRI
• Low-dose fetal CT scan

Additional prenatal diagnostic procedures performed at CHOP:

• Diagnostic fetoscopy
• Amniocentesis
• Chorionic villus sampling (CVS)
• Fetal blood sampling
• Fetal skin/muscle biopsy
• Microarray analysis
• Early fetal cardiovascular imaging (EFCI): We are one of the few programs to offer early fetal cardiovascular imaging (EFCI), which allows diagnosis of heart anomalies as early as 12 weeks gestation, as opposed to typical diagnosis at 16 to 18 weeks gestation.