MRIs , which help determine the severity ; fetal echocardiograms , which show any related heart disease ; and amniocentesis , which helps us determine if there ’ s any genetic cause .
• 3,000 + ultrasounds performed in 2021
• 1,700 + fetal echos performed in 2021
• 290 fetal MRIs in 2021
Genetic screening
Some reports estimate that up to 30 % of all babies with CDH have an underlying genetic syndrome . That ’ s why genetic counseling is a part of all new patient visits at the Colorado Fetal Care Center . Our dedicated genetic counselors work with families and care teams to review genetic testing options and interpret test results when a genetic syndrome may be possible .
Screening tests
• cfDNA ( common aneuploidues like Down syndrome )
• Carrier screening ( for autosomal recessive conditions )
Diagnostic tests
• FISH
• Karyotype
• Microarray
• Depending on fetal abnormalities present , single-gene sequencing , multi-gene sequencing , whole-exome sequencing