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“You hear stories every day of people who go through difficult pregnancies, but for the most part, everyone you know gets pregnant and life goes on. When we first heard our diagnosis, we thought ‘Oh– I’m one of those rare stories that everyone hears of,” says Brooke Ricafort.
rocky mountain hospital for children: expert care for complex congenital diagnoses editorial submitted by our partners at Rocky Mountain Hospital for Children 66
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Brooke’s daughter Audrey was born and received all of her care by the acclaimed multi-disciplinary Maternal Fetal Team at Rocky Mountain Hospital for Children (Denver, CO). After experiencing an abnormal finding during an ultrasound with her OB/GYN, she was referred to Rocky Mountain Hospital for Children for further testing. That testing confirmed a cardiac abnormality and a 22Q deletion (sometimes known as DiGeorge Syndrome). While the deletion itself can affect many systems and have multiple associated birth defects, for Audrey the primary concern was her heart.
22Q deletion syndrome is something Cathy Burson, Genetic Counselor, at Rocky Mountain Hospital for Children is very familiar with. She adds it is second only to Down Syndrome as the most common chromosomal condition her expert genetic team sees. “Although 22Q deletion can sometimes be detected in cell free fetal DNA in mom’s blood, diagnostic testing is done when clinically indicated, like in Brooke’s case. During pregnancy, testing can be performed to confirm the diagnosis,” says Cathy. “Diagnosis can also be confirmed at time of delivery if parents don’t want to do invasive testing during the pregnancy.”
