Stories about: Advanced Fetal Care Center

Daphne’s story: Lifting the fog on bladder exstrophy

Girl with bladder exstrophy playing at home

The day of their 18-week prenatal appointment was the first day of the most difficult period in Pam and Jon’s life. When the ultrasound technician couldn’t see their baby’s bladder, a second ultrasound was ordered to see if the bladder would become visible with another look. The question remained: Could it be something benign or a serious medical issue?

Pam panicked. Jon tried to stay calm. They had so many questions, plus a 2-year old daughter, their careers and a house to take care of. Their beloved Red Sox were playing in the World Series. Family and friends offered, with the best of intentions, conflicting advice.

The second ultrasound confirmed that their baby would be born with bladder exstrophy, a rare and complex birth defect where the bladder develops outside of the body. No one they knew had ever heard of the condition, not even their obstetrician.

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Down syndrome: Reimagining what’s possible

Ella kisses baby Juila on the cheek.
Photo credit: Nicole Starr

I first met Ella Gray Cullen in the Advanced Fetal Care Center (AFCC) of Boston Children’s Hospital, shortly after she had received a prenatal diagnosis of Down syndrome. Like many parents expecting babies with conditions that can be diagnosed prenatally, she wanted to know more.

We talked about the additional medical screenings that would be recommended for her daughter to evaluate for cardiac defects and other conditions that are more common in children with Down syndrome. We discussed the developmental supports through Early Intervention and school that would be available to help her daughter learn and develop to her best ability. And, we talked about breastfeeding.

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A ‘superstar’ homecoming: Julia’s journey for bladder exstrophy care

Julia, born with bladder exstrophy, is pictured being held by her mom and dad

Julia Ryan was born on March 2, but her journey to Boston Children’s Hospital began months before her birth.

During Tori Ryan’s pregnancy, doctors near her home in South Carolina diagnosed her unborn child, Julia, with bladder exstrophy, a rare and complex birth defect where the bladder develops inside out and is exposed outside of the body.

“There were a lot of tears,” says Tori’s husband, Sean, of receiving the news about their daughter. “It was hard. We had to balance our own worry with the excitement our two older daughters felt about having a little sister.”

Their concern for their unborn baby led the Ryans to Boston Children’s. 

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Second opinion gives unborn baby second chance

fetal second opinionSeven-month-old Charlotte Bent is hitting all of her developmental milestones — smiling, laughing, playing peek-a-boo, bearing weight on her legs. Her parents, Jennifer and Keith, are overjoyed.

“It’s a complete 180-degree turn from where we thought we would be this time last year,” says Jennifer.

After struggling to conceive their second child, the couple was thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April.

Jennifer felt the baby’s first kicks on Nov. 23, 2015.

The next day, she was scheduled for an anatomy scan. “At first, everything seemed normal,” recalls Jennifer. But as the obstetrician was helping her from the exam table, he looked at Jennifer. “I have some concerns,” he told her.

“My heart dropped,” she says. Joy turned to devastation.

“I think your baby is missing part of her brain,” the obstetrician said.

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