Abdominal Wall Defects - Fetal diagnosis & evaluation - Omphalocele - Gastroschisis - Chop - 3 of 11

>> FOR MOST FAMILIES THIS IS AN OVERWHELMING SITUATION BECAUSE THEY TYPICALLY GO IN FOR AN ULTRASOUND WANTING TO KNOW THE GENDER OF THEIR BABY NOT EXPECTING THAT THEY ARE BEING GIVEN A DIAGNOSIS OF A SERIOUS BIRTH DEFECT. >> THE TWO TYPES OF ABDOMINAL WALL DEFECT ARE VERY DIFFERENT. >> THEY'RE USUALLY DIAGNOSED IN ONE OF TWO WAYS EITHER THE MATERNAL ALPHA-FETOPROTEIN SCREENING BECAUSE THAT FETOPROTEIN GOES INTO THE AMNIOTIC FLUID, LEAKS ACROSS TO THE MOTHER'S CIRCULATION AND SHE HAS THIS ELEVATED FETOPROTEIN. >> SO THE SIMPLE BLOOD TEST FOR MOTHER WILL DETECT THESE INCREASED LEVELS OF PROTEIN AND TELL THE OBSTETRICIAN THAT THERE'S SOMETHING GOING ON HERE THAT NEEDS TO BE LOOKED AT FURTHER. >> FROM THERE THEY GO ONTO A SCREENING ULTRASOUND. AND THAT SCREENING ULTRASOUND DETECTS THE ACTUAL ANATOMIC PROBLEM OF EITHER A GASTROSCHISIS OR AN OMPHALOCELE. >> THE DIAGNOSIS IS MADE BY SEEING BOWEL, SMALL AND LARGE BOWEL, FLOATING IN THE AMNIOTIC FLUID. >> THERE'S A MEMBRANE COVERING IT AND HOLDING IT IN SO THAT WOULD BE AN OMPHALOCELE VERSUS THIS FREE-FLOATING LOOPS OF BOWEL THAT WOULD SUGGEST THAT IT WAS A GASTROSCHISIS. >> JUST LIKE WITH ALL BIRTH DEFECTS THAT WE DEAL WITH, OUR JOB IS TO CONFIRM THE DIAGNOSIS AND THEN TO TALK TO THE FAMILIES ABOUT WHAT THEIR OPTIONS ARE FOR THE PREGNANCY. >> WE PROVIDE A COMPREHENSIVE ONE-DAY EVALUATION WHICH CONSISTS OF AN ULTRASOUND, A FETAL ULTRAFAST MRI AS WELL AS A FETAL HEART STUDY TO EVALUATE THE FETUS COMPLETELY AND ENSURE THAT THERE ARE NO OTHER ABNORMALITIES PRESENT. >> WITH OMPHALOCELE IT'S ALSO VERY IMPORTANT TO GET A KARYOTYPE USUALLY BY AMNIOCENTESIS. >> FOLLOWING THE COMPREHENSIVE EVALUATION, THE FAMILY MEETS WITH THE MULTIDISCIPLINARY TEAM OF SPECIALISTS THAT TYPICALLY INCLUDE A HIGH-RISK OBSTETRICIAN, A PEDIATRIC SURGEON, AS WELL AS A COORDINATOR TO DISCUSS ALL OF THE FINDINGS AND TO DISCUSS ALL OF THE OPTIONS THAT ARE AVAILABLE TO THAT PARTICULAR FAMILY. >> WE TRY VERY HARD TO COUNSEL THE FAMILIES WITH REGARD TO WHAT SOME OF THE ISSUES AND OBSTACLES MAY BE NOT ONLY BEFORE BIRTH, DURING BIRTH BUT AFTER BIRTH. >> FINDING OUT THAT YOUR BABY HAS A BIRTH DEFECT IS DEVASTATING IN AND OF ITSELF. GETTING A PLAN THROUGH THE TEAM AT OUR CENTER MAKES IT ALMOST BEARABLE. >> SO IT'S IMPORTANT FOR US TO BE ABLE TO PROVIDE THAT FAMILY FROM THE FIRST MOMENT THAT THEY CONTACT US WITH THE SENSE OF, "WE'RE HERE TO HELP YOU IN ANY WAY THAT WE CAN."