Fetal Diagnosis of Congenital Diaphragmatic Hernia (CDH) (2 of 11)


>>HAVING A HIGH VOLUME OF
DIAPHRAGMATIC HERNIAS HAS ENABLED US TO PREDICT BETTER
FOR FAMILIES WHERE THEIR BABY– THEIR UNBORN BABY WILL FALL
IN THE SPECTRUM OF SEVERITY.>>ALL THE INFORMATION THAT WE
FOUND ON THE INTERNET MADE IT SEEM LIKE IT WAS REALLY
HOPELESS.>>THE SITUATION LOOKED
BLEAK TO US.>>IT WAS EXTREMELY AGONIZING. I MEAN, I JUST KEPT ON
RESEARCHING AND FINDING OUT ALL OF THIS INFORMATION THAT
WAS MAKING ME FEEL WORSE AND WORSE ABOUT THE SITUATION.>>MOST MOMS WHO ARE DIAGNOSED
WITH A CONGENITAL DIAPHRAGMATIC HERNIA COME TO US AFTER THEIR
18- TO 20-WEEK ULTRASOUND. SO WE MEET THEM VERY EARLY ON. >>THE EVALUATION THAT THEY
RECEIVE HERE INCLUDES, USUALLY, A HIGH-RESOLUTION
ULTRASOUND, WHICH CAN TAKE TWO-,
TWO-AND-A-HALF HOURS. THE ULTRASONOGRAPHERS
ARE VERY CAREFUL TO LOOK AT EVERY SINGLE DETAIL. THE EVALUATION ALSO
INCLUDES A FETAL MRI. WE FOUND THAT TO BE VERY HELPFUL
IN DETERMINING LIVER POSITION AND IN DETERMINING HOW
MUCH LIVER IS HERNIATED. THEY ALSO ALL RECEIVE
AN ECHOCARDIOGRAM. THERE IS AN ASSOCIATION WITH
CONGENITAL DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DISEASE. AND SO IT’S VERY IMPORTANT TO
KNOW IF THAT THOSE TWO ARE COEXISTENT BECAUSE IT CHANGES
HOW THINGS ARE MANAGED.>>AT THAT TIME THEY WERE JUST
DIAGNOSING ALL OF THE SPECIFICS OF HOW SEVERE HER CONDITION WAS. SO THAT WAS REALLY COMFORTING
TOO THAT THEY WERE REALLY BEING THOROUGH AND FINDING OUT EXACTLY
HOW SEVERE THINGS WERE.>>IN THE PRENATAL WORLD THERE
STILL IS NO LUNG-FUNCTION TEST SO THAT WE HAVE SPENT A
TREMENDOUS AMOUNT OF TIME LOOKING AT OTHER CRITERIA TO
TELL US HOW WELL THIS FETUS IS GOING TO BREATHE ONCE IT’S BORN.>>THERE’S A MEASUREMENT THAT WE
USE CALLED THE “LUNG-TO-HEAD CIRCUMFERENCE RATIO,” OR LHR. AND WE’VE BEEN ABLE TO TAKE
THAT RATIO OF THE CROSS-SECTIONAL AREA OF THE LUNG, DIVIDED BY
THE CIRCUMFERENCE OF THE HEAD, AND BREAK THAT DOWN INTO
DIFFERENT CATEGORIES TO BE ABLE TO CORRELATE THAT WITH
LONG-TERM SURVIVALS AND RISK OF OTHER COMPLICATIONS.>>CLEARLY, BABIES THAT HAVE
A SEVERE DIAPHRAGMATIC HERNIA, HAVE SEVERE CONGENITAL
HEART DISEASE, IS A VERY POOR PROGNOSIS GROUP. THOSE BABIES THAT HAVE A
SEVERE CHROMOSOMAL DISORDER AND DIAPHRAGMATIC HERNIA,
THAT’S, YOU KNOW, VIRTUALLY UNIFORMLY FATAL. FOR THOSE BABIES WITH AN
ISOLATED DIAPHRAGMATIC HERNIA, WE USUALLY TALK IN TERMS OF FETAL
LIVER POSITION AND THE LHR. FOR THOSE BABIES WITH THE LIVER
DOWN IN THE ABDOMEN WITH AN LHR GREATER THAN 1.4–THOSE BABIES
DO EXTREMELY WELL, CAN BE QUITE SICK THOUGH,
OF COURSE, AFTER BIRTH. AND THE SURVIVAL RATE
IS PROBABLY 95% PLUS. THOSE BABIES WITH A VERY
SMALL LHR, SAY, LESS THAN 1, WITH MASSIVE FETAL LIVER HERNIATION,
THOSE BABIES MAY BE IN THE 50/50 SURVIVAL RATE GROUP. THE CRUCIAL FACTOR IN WHETHER
OR NOT A BABY WITH DIAPHRAGMATIC HERNIA SURVIVES IS BASICALLY
DEPENDENT ON THE SIZE OF THE LUNGS, HOW WELL THEY
FUNCTION, AND HOW WELL THE BLOOD FLOW IS GOING THROUGH THEM.>>WE KNOW WELL BEFORE THE
BABY’S BORN THAT THE LUNGS AREN’T GROWING NORMALLY AND,
RATHER THAN GOING IN AND FIXING THE HOLE IN THE DIAPHRAGM, WHAT
WE REALLY NEED TO FOCUS OUR RESEARCH ON IS TRYING TO MAKE
THE LUNGS GROW. SO THAT WHEN THE BABY IS BORN
THERE’S SUFFICIENT LUNG SIZE IN ORDER TO EXCHANGE
RESPIRATORY GASES. AND ONE OF THE WAYS YOU CAN
ACTUALLY STIMULATE OR ACCELERATE GROWTH IN THE FETUS IS A
SURGICAL PROCEDURE CALLED “TRACHEAL OCCLUSION.”>>THE RATIONALE BEHIND TRACHEAL
OCCLUSION OR TRACHEAL OBSTRUCTION IS THAT IS FETAL
LUNG BEFORE BIRTH IS FULL OF FLUID AND THAT FLUID IS UNDER
POSITIVE PRESSURE AND THAT POSITIVE PRESSURE IS IMPORTANT
TO DISTEND THE DEVELOPING FETAL LUNG TO MAKE IT GROW. AND THERE’S STRONG
EXPERIMENTAL EVIDENCE THAT, IF YOU INCREASE THAT PRESSURE
IN THE DEVELOPING LUNGS, WITH THE FLUID THAT’S PRODUCED
BY OCCLUDING THE AIRWAY BEFORE BIRTH, PRESSURE GOES UP,
LUNG DISTENDS MORE, LUNG GETS BIGGER, THEN THAT MAY
HAVE A BENEFICIAL EFFECT.>>TRACHEAL OCCLUSION WAS FIRST
DEVELOPED BY MEMBERS OF OUR TEAM AND WHERE A CLIP WAS PLACED
USING OPEN FETAL SURGERY.>>BUT SOME OF THE EARLY CASES
THAT WERE DONE OPEN WERE FRUSTRATING AND THE OUTCOMES
WERE NOT AS GOOD AS WE HAD HOPED.>>WHEN THESE BABIES WERE
RESUSCITATED AT THE TIME OF THE DELIVERY, THESE WERE
EXTREMELY SICK, SICK BABIES.>>WE KNOW THE LUNGS GROW. THEY ARE BIGGER. BUT IN OUR FIRST GROUP OF PATIENTS,
THEY DIDN’T WORK BETTER. SO THIS WAS TAKEN BACK TO
THE LAB TO TRY THE FIGURE OUT THE MECHANISMS BEHIND THAT
GROWTH AND THE REASONS THAT SOMETIMES THESE LUNGS, THAT
EVEN THOUGH THEY WERE BIGGER, DIDN’T FUNCTION WELL.>>SO WE ESSENTIALLY ABANDONED
THAT APPROACH FOR A NUMBER OF YEARS.>>SINCE THAT TIME A TECHNIQUE
HAS BEEN DEVELOPED TO DO THIS IN A MINIMALLY INVASIVE MANNER.>>THEY’RE DOING ENDOSCOPIC
TRACHEAL OCCLUSION. SO MINIMALLY INVASIVE TRACHEAL
OCCLUSION, INSERTING THESE SMALL BALLOONS INSIDE THE TRACHEA TO
BLOCK THE LUNGS AND STIMULATE THEIR GROWTH.>>AND THEN TO DEFLATE THAT
BALLOON WITH A SECOND FETAL SURGICAL PROCEDURE EITHER BY
FETOSCOPY OR WITH PERCUTANEOUS PUNCTURING OF THE BALLOON, LIKE
WITH AN AMNIOCENTESIS NEEDLE TO REVERSE THE OBSTRUCTION,
AND THEN THE BABY WOULD BE BORN SHORTLY THEREAFTER.>>THE GREAT ATTRACTION TO THIS IS
THAT WE’VE TAKEN THE RISK TO MOM WAY DOWN, AND WE’VE TAKEN THE
RISK FOR PRETERM LABOR WAY DOWN.>>SO THE BABY CAN STAY INSIDE
THE MOM FOR LONGER. THE TRACHEA CAN BE OCCLUDED
FOR LONGER, WHICH ALSO ALLOWS GREATER LUNG GROWTH.>>DURING THAT TIME PERIOD,
THERE HAS APPEARED TO BE ADEQUATE LUNG GROWTH TO WARRANT FURTHER
EXPLORING THAT TECHNIQUE BY OUR CENTER.>>NOW THE QUESTION IS,
“IS IT BETTER?” AND IT’S A QUESTION
THAT WE DON’T KNOW YET, AND SO WE REALLY THINK IT’S
IMPORTANT TO STUDY THIS VERY CAREFULLY. TO CHOOSE THE RIGHT PATIENTS.>>BECAUSE WE DON’T WANT TO
INTERVENE IF THE BABY DOESN’T NEED IT. AND THEN WE NEED TO TEST
THE BIOLOGY THAT THIS WILL REALLY WORK CLINICALLY TO MAKE
A DIFFERENCE.>>JUST GETTING A SURVIVOR
ISN’T THE GOAL HERE. WE NEED TO BE SURE THAT
WE’RE HAVING FULLY FUNCTIONAL GOOD OUTCOMES.>>I’M STEFANIE KASPERSKI,
I’M THE GENETIC COUNSELOR.>>THE FAMILIES WILL MEET WITH
A GENETIC COUNSELOR WHO GOES THROUGH THEIR FAMILY HISTORIES. THEY MEET WITH AN OBSTETRICIAN
WHO LOOKS BACK THROUGH ALL OF THEIR OB RECORDS. AND THEN WE HAVE A TEAM MEETING
WHERE THE FAMILY SITS DOWN WITH THE OBSTETRICIAN,
THE PEDIATRIC SURGEON AND OUR NURSE COORDINATOR TO GO
THROUGH ALL THE STUDIES THAT WERE PERFORMED THAT DAY AND PUT
THEM IN THE CONTEXT OF WHAT IT MEANS FOR US AND WHAT OPTIONS
WE MAY HAVE TO GO FORWARD.>>THEY EXPLAINED THE TEST
RESULTS TO US, AND THEY TOLD US THAT SIMONE’S
CASE WAS NOT AS SEVERE AS SOME OF THE OTHER CASES THAT THEY’VE
SEEN BECAUSE HER LIVER WAS DOWN AND THAT MEANT THAT HER LUNGS
WEREN’T AS COMPRESSED AS THEY COULD BE.>>IT’S IMPORTANT THAT WE LOOK
CAREFULLY AND THAT WE FIGURE IT OUT. AND THAT WE GIVE THEM ACCURATE
INFORMATION SO THAT THEY CAN MAKE DECISIONS FROM THERE.>>WE FOUND OUT THAT SHE
ACTUALLY HAD AN 80% CHANCE HERE. SO THAT WAS THE FIRST TIME WE
REALLY FELT SOME HOPE THAT OUR BABY WAS GOING TO SURVIVE.

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