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>> WHEN A MOM FIRST CALLS OUR CENTER, EITHER OUR NURSE COORDINATOR
OR GENETIC COUNSELOR WILL TALK WITH THEM ABOUT HOW THEY FIRST
LEARNED ABOUT THE DIAGNOSIS OF SPINA BIFIDA,
WHAT TESTS THEY'VE HAD SO FAR, AND THEIR UNDERSTANDING
OF THE DIAGNOSIS.
>> THEY ARE SCHEDULED FOR AN ENTIRE DAY OF DIAGNOSTIC TESTING
AND COUNSELING.
>> THE DIAGNOSTIC PROCESS INVOLVES RADIOLOGIC STUDIES,
MATERNAL-FETAL ULTRASOUND THAT'S USUALLY TWO PLUS HOURS
IN DURATION, IN WHICH WE LOOK AT EVERYTHING.
>> --HOW BIG THE LESION IS, WHAT SEGMENTS OF THE SPINE
ARE INVOLVED.
THEY LOOK FOR THE DEGREE OF HYDROCEPHALY,
EVIDENCE FOR THE CHIARI MALFORMATION.
AND WE LOOK FOR EVIDENCE OF PARALYSIS OR FUNCTION
OF THE LOWER EXTREMITIES.
>> FETAL MRI--THAT USUALLY TAKES 30 TO 45 MINUTES AND REQUIRES
THE MOTHER TO BE STILL INSIDE THE MRI CHAMBER.
A FETAL ECHOCARDIOGRAM TO LOOK AT THE FETAL HEART.
>> FETUSES WITH MYELOMENINGOCELE TYPICALLY DO NOT HAVE ANY PROBLEMS
THAT ARE WRONG WITH THE FETAL HEART.
HOWEVER, AS A FETAL CARDIOLOGIST,
IT'S VERY IMPORTANT TO MAKE SURE THAT WE'RE NOT DEALING
WITH ANY ABNORMALITIES WHATSOEVER OF THE HEART,
EVEN IF THEY'RE MILD.
>> PART OF THE EVALUATION WHEN A FAMILY COMES TO OUR CENTER
IS NOT ONLY THE DETAILED IMAGING OF THE FETUS,
BUT CAREFUL EVALUATION OF THE MOTHER HERSELF.
>> AND THEN WE MEET WITH THE FAMILY TO GO THROUGH THE RESULTS
OF THOSE TESTS AND TELL THEM WHAT WE KNOW ABOUT
THE DIAGNOSIS.
>> THE COUNSELING INVOLVES A MULTIDISCIPLINARY GROUP--
AN EXPERIENCED NURSE, NEUROSURGEON, FETAL SURGEON,
MATERNAL-FETAL MEDICINE SPECIALIST, SOCIAL WORKER.
THIS IS A TEAM THAT CAN PROVIDE INFORMATION
TO THE FAMILY, REVIEW THE RESULTS OF THE TESTS,
AND PRESENT THE OPTIONS.
>> IT WAS AMAZING HOW MUCH INFORMATION THEY WERE ABLE
TO CONVEY, AND WE UNDERSTOOD IT.
VERY CARING AND IT JUST MADE YOU FEEL LIKE,
IF THEY SAY THIS IS AN OPTION FOR YOU,
IT WAS A POTENTIALLY GREAT THING FOR US.
>> FAMILIES FACED WITH THE DIAGNOSIS OF SPINA BIFIDA
IN UTERO ARE NOW ABLE TO MAKE CHOICES.
>> MANY FAMILIES, AFTER HEARING THE RANGE AND POTENTIAL
SEVERITIES OF THE DISABILITIES AND PROBLEMS THESE CHILDREN
FACE, CHOOSE TO TERMINATE THE PREGNANCY.
>> THEY HAVE THE OPTION OF STAYING HERE AT CHOP,
DELIVERING HERE AND WE'LL DO CONVENTIONAL TREATMENT,
WHICH IS WE'LL DELIVER THE BABY, AND I'LL CLOSE THE BACK,
PUT IN THE SHUNT, WHATEVER'S NECESSARY IN THE NEWBORN PERIOD.
>> OR NOW THEY HAVE THE OPTION OF PURSUING FETAL SURGERY,
WHICH REALLY DOES CHANGE THE NATURAL HISTORY OF THE DISEASE
AS WE KNEW IT BEFORE.